and i know it probably won't be the last. year watching news from berlin coming up next a new documentary that asks how much do we really want to know about our genomes and don't forget you can get all the latest news and information around the clock on our web site that's still w dot com. on the. first day of school. the 1st clue most of. dora's grand moment arrives. join your regular jane on her journey back to freedom. in our interactive documentary. an orangutan returns home on the d w don't come in tanks.
now let's see a bit of that power smile. is our health predetermines from birth 5 years ago young i was diagnosed with a genetic brain defect i was so down i could only see the bad side of everything and i felt really sorry for myself or like doctors told her that her several talent is shrinking. chemists have been i came to terms with it i said ok so you're there but now i'm in charge again when the fear sets what impact can we have ourselves and how much is determined by the genes our parents passed onto us our character and constitution but also our predisposition for illnesses such as on timers heart disease and cancer. human geneticists are discovering a growing number of risk genes but how much do we want to know now that we have modern d.n.a. tests that have come to your neighbors asked to perform analyses that would not have seemed possible 5 years ago it's a fun time. this is why we are discovering such an incredible amount right now it's
considered caton discovered a lump in her breast a subsequent analysis revealed that she has a cancer gene. a pattern and i had an 80 percent statistical probability of developing cancer at some point in my life and no matter how healthily mindfully and harmoniously i live my life that probability would not get any smaller. diagnosing disorders in our genes that have already developed is one thing but modern genetic tests promise far more they can calculate the risks we will face in the future even if we are healthy for the time being. what liabilities are harbored in our genes and how much do we want to know about the risks they pose. knowledge that determines how we live and how we might die. the downside to genetic research actions is that they can make the patient become fixated on a future development that may never happen. in mine alternately nobody can project
my future at the. young our lives on the german island of lucan her fate seems to have been sealed by her genetic makeup she has a hereditary disease that is causing part of her brain to teach generate when. you lose all of your motor skills that means the ability to walk or to talk or to pick things up this 5. because i now permit myself to get angry sometimes i had a fall this morning and really hurt myself that that's how things are it's just my
god. i'm not in. it i wrecked my glasses her friend an optician is always there to comfort her after a fall through this place. where she cannot help ya today his with her glasses which are history and. yet his condition is progressive the diagnosis was a shock. so i was terrified because initially the doctors couldn't say how rapidly it with progress this is they were talking about wheelchairs and it ending awfully . and that my life expectancy would no longer be the same as that of a healthy individual. so how long could she live how long will she still be able to talk and move around before she loses all of her motor faculties yanna has a genetic predisposition for the condition which went unnoticed for the 1st 40
years of her life. after starting out in the restaurant trade she retrained as an image consultant and etiquette coach always demanding perfection of herself her final career move director of an apartment house while also being a single mother. she worked up to 60 hours a week continually pushing herself to the limit. just say this disease normally arises in elderly people i was too young that when you permanently exceed your mental and physical limits on eventually you'll pay the price. and. the young to ignore the initial symptoms of her illness from lapses in concentration to spells of dizziness she attributed everything to her growing workload. that one night after another particularly
stressful day swerved to avoid an oncoming car and drove into a tree was. gonna survive the crash more or less unhurt but then a doctor discovered some odd symptoms. asked me to walk along a straight line i tried but couldn't but. i had to stand on one leg he stood right next to me because he guessed what might happen and when i tried to stand on one leg i fell over. what doctors did not guess at that time because of no family history of her condition was that it was inherent in her genes yet i went through the full gamut. of consultations and examinations until finally a costly genetic test performed as part of a study provided answers how i know i have a gene mutation that was previously unknown my age and like parents each have both of the sick and the healthy chromosome clues on the guy and both my father and my
mother passed the sick one on to me so from the. how many unknown risks do we carry in our genes and how can we identify them our genome is comprised of 3200000000 blocks of d.n.a. how can we picture that number 3200000000 grains of sand would fill 20 small buckets but only one percent of our d.n.a. just 2 handfuls of sand there is from one individual to the next determining our specific size and shape our character and our propensity for illness and it's this one percent that human geneticists concentrate on it is hidden away spread across the entire genome the one percent is also the key to potential hereditary disorders . scientists have now identified over $5000.00 risk genes and are constantly finding new genes that crop up together with certain diseases definitive come on
we're currently making a lot of discoveries in human genetics there have been dramatic advances in molecular genetic analysis in recent years and thanks to these new technical possibilities we can now conduct analyses that would have been unimaginable 5 years ago. the mapping of a complete human genetic code less than 2 decades ago cost billions of euros today the price for the same procedure is just a few $1000.00 and it will continue to fall as a result analyses are being performed more frequently in turn leading to the discovery of more suspicious gene mutations and. when we find something we can check databases for other patients with changes in the same gene. and we might find 2 or 3 others somewhere in the world who have that same disease. we can then denting fibers gene as a disease gene for a particular condition. so that's pretty exciting.
just as every patient is different so too is every gene mutation not all identified me taishan affect health and development a mutation may be harmless researchers need a large number of patients with the same mutations and same symptoms before they can identify a suspicious pattern today there are databases containing millions of genetic profiles of sick and healthy patients compiled by universities human genetics institutes and private sector companies. the databases are an invaluable treasure trove for professor he's part of a younger generation of human geneticists whose work revolves around big data and his approach has been successful he and his team recently identified new links between 33 genes and epilepsy. but how
dependable are diagnoses when a subject is healthy like professor. i don't intend to sequence my entire genome because i know how often we find ambiguous results. of us in the case of certain changes we come across we cannot say with absolute certainty whether or not there is cause for concern. and if i don't have a specific query on a specific illness. and i then find ambiguous results in some genes that might lead to something then i'm just creating insecurity. every individual has genetic variants that can make them ill and in most cases they only find out once they do become ill cats one was 35 when she felt a lump in her breast tests revealed she had cancer.
i don't often hear phrases like a high risk patient and its growth is aggressive and i've had a pretty healthy lifestyle i didn't smoke and still don't these are all factors that indicate that the illness could be genetic. without this test i very probably would have developed a new tumor and might not be here today. that i had to go. as a death and sometimes when i'm having a bad day i remind myself i'm still alive thanks to modern medicine. patton grew up in life sick after graduating from college she spent some time in britain she was living in berlin when she became seriously ill she had the gene test done during her chemotherapy catlin has the b.r.c.a. one gene mutation the faulty gene publicised by angelenos or the like the actress
catherine had a double mastectomy to remove both breasts including the unaffected one to minimize her risk of developing cancer but this mutation also increases the likelihood of developing over arion cancer. and i'd still say your breasts you can cut off but it's a much bigger deal if it's in your abdomen. at one point a doctor said that's not something you can just have checked for. if it's detected joining an examination then it's probably too late which is why a lot of doctors told me the ovaries have to go and i thought no i'm not ready to do that yet. there it would be another part of me i'd have to let go of i am the human being behind these statistics i'm not just a name or a subject in a study i'm a human being with feelings dreams and expectations they mention again and once you're in with. catton wants to keep her ovaries for as long as possible she's afraid of surgery and of going through menopause as
a young woman because hormone therapy is taboo for b.r.c.a. one carriers she wouldn't be able to treat accompanying symptoms intense hot flashes and total hormonal imbalance caton already had such symptoms during chemotherapy she got through it with her roommate support that he was such a strain to eat anything in the morning. when it got really bad i'd have a little pillow here. that might sound cute but when i get something out have to put my head down and take a time out right here at the table i just didn't have any energy in the past. figuring out the right thing to do is a precarious balancing act recently cotten had her fallopian tubes removed in the hope of reducing the risk of ovarian cancer. if it's genetic it's never gone for good you always have another examination coming up or another big decision in with . thanks to genetic diagnosis people have access to an unprecedented amount of
information about their state of health but how reliable is this preview of our own future and how does it affect us one of the specialists in this field is on the teaching staff here at the university of applied sciences in emden in northwestern many cilia some ascii has conducted research on the dilemma facing patients when they find out about what their genes might have in store for them. the primary focus for me was on the new way that individuals are expected to make decisions of friends on a bullet strictly speaking there is no right decision to make when all you're doing is choosing between different risks. it's basically a new form of gambling basing your decision on a lottery. the sociologist published her observations on genetic counseling and its social consequences in a book called the decision trap what impact does the information have on patients and can it be too much so mirsky has also studied human genetics and analyze d.n.a.
in the lab she says genes should not be equated with destiny. is good and we see you know when we're talking about risk genes a specific change at the d.n.a. level can be a trigger but not necessarily. it might lead to a change whether visible or clinical i think but it also might not see a clinician or go on as kind of a person may have a severe mutation be and still not get. the votes on. only a fraction of mutations are certain to lead to disease in most cases it's a question not of certainty but of probability 20 percent or 60 or 80 even with identical twins carrying the same mutation one might remain healthy geneticists still don't know why. for professor there is little ambiguity in genes which is why
he calls them disease genes and not risk genes for him it's just a question of time before a person with a serious genetic defect to get sick anything else is a rare exception melanie's survived an aggressive form of intestinal cancer she underwent chemotherapy radiation and extensive surgery which included the creation of an artificial rectum he's been sent to us from nuremberg due to a suspected hereditary form of intestinal cancer. my father was born in 1957 he also had bowel cancer 10 years ago and cancer in his lymph nodes on the boys and this is how old was he when he was diagnosed with color rectal cancer and the so he must have been around 50. so it all. just before the age when you get preventive treatment when the lymphoma was immediately apparent and the intestinal cancer only after i urged him to have a colonoscopy due to the likelihood of a hereditary risk. and then they said it was too late they did remove something it
turned out to be a lie and of course one of my parental grandmother is now dead she apparently carried on smoking right up until the end and never had cancer. but her mother probably did. well. do you know what kind is that as far as i could tell it was intestinal but i can't say for sure but there's a significant history of cancer on my father's side. cancer is one of the most common forms of cancer genetic counseling also looks at the patient's family history if relatives have been ill it makes sense to perform a genetic analysis. that means if there have been several cases in that family or individuals who became ill at a young age then we have to ask whether it's perhaps a case of regular old age related cancer or indeed you to read it or
a factors. in your case you were 35 when you became ill. and your father developed cancer when he was around 50. percent of cases occurred well before the average age for the onset of age related colorectal cancer. doctor says. i have 2 children which is why i'm here i want to know whether they might have a genetic pre-disposition and at what point it would make sense to have them checked. if that doesn't happen until they're 35 like i was then it will be too late. by then the horse is already bolted i'd like to ask what age would be advisable $152025.00 once. i just want to minimize
the risk for my family. that's if we can answer tame this patient's predisposition with 100 percent certainty from a genetic test then it's very likely that she will have inherited it from her father. and as i mentioned earlier there will be a 50 percent chance in each case of her having passed it on to her daughters but it could be that both have inherited it or neither have or one has and the other hasn't. happened. melanie had to formally sign an agreement for the genetic test as is required under german law her daughters cannot have the analysis done until they are 18 since hereditary bal cancer does not develop before adult hood tests on children are only permitted if they already have a disease of unknown cause. because
genetic testing will become increasingly standard practice and become increasingly comprehensive with almost a relatively sure that at some point it will be standard practice by and performing a genetic analysis during childhood to examine the entire genome rather than just look for one or 2 specific genes or conduct a test pattern because up next it was clear that it might eventually become routine for newborns to undergo a complete genome analysis just like with newborn screening and for that data to be stored on a smart card. eventually perhaps but not yet in germany people have a right not to know the results of genetic tests but can that information be concealed when a hereditary condition has been diagnosed in an individual's family and what impact does knowledge of the risk of future illness have. with her rare condition yano still has to go about her daily life the 1st thing she thought about when she was diagnosed was her child lines on my son was 12 and i started to panic i was
terrified and my biggest fear was that my son might get it because genetic means hereditary you need to. put human geneticists have assured her that the probability of her son developing the same disease is very low yanna herself inherited the genetic defect from both her father and her mother and it's only in combination that the mutation leads to illness hers is a rare case her son is protected by his 2nd most likely healthy paternal chromosome . they're now a band of coke but if he gets married and at some point plans to have children then they'll have to take my results to a human genetics institute and get themselves tested. this is the way the world is headed anyway eventually we'll only have genetically flawless people being born. month interim but he should get himself tested and. at the us.
for now it's a subject they don't talk about at home yet and wants to spare her son now 17 unnecessary worry about risks and probabilities. told us i am watching him. and you are what you think he needs right now for us this information on my son that he might get preoccupied with it and then there's a high probability of him getting some pseudo disorder so i'm not going there. scientific studies have shown that merely worrying about a disease can make you ill like the placebo effect except it works in the other direction if we expect to get sick we can develop symptoms a medical prognosis can change how we see ourselves and others. and don't mention test i mean you just a person you what we've glean at least potential information on their family members to. decisions are never taken in isolation and they always include relatives and especially when there is a genetic factor there will always be other people potentially affected. the
diagnosis of a genetic illness is a shock as much to an individual as to their family members. catalin has come to light to visit friends and her parents when she found out that her breast cancer was genetic it unleashed a series of questions who did the mutation come from until then there'd been no known history of the disease in her family. her mother then also had herself tested to find out whether she could likewise develop cancer. while there it was a very staid and boring appointment just terrible and i still remember how afterwards we went and bought some sunflowers of and then. i might have had something to and i wanted to know who was responsible for cutter and illness whether it was me or my husband of course you can't blame anybody they can't do
anything anyway and i had a test done and was then a little bit reassured. but for country i'm so dreadfully sorry for her you know there's nothing one can do. and do anything factually days you were cranky and really angry. i was a cranky it just hurts so much to know that we passed that on to you catron at the . time i could have dealt with a lot of other things but why this is a big thing you know. the legacy of extreme leigh rare cases the mutation is not hereditary but arises spontaneously normally if the mother does not have the breast cancer gene then it must come from the father. has refused to undergo a genetic test. it's kind of like can understand that because then you have it in writing and there's no denying it if my father says he's now so old anyway and doesn't want that that i have to accept it. were cancer genes are involved patients
in germany are provided with screenings and preventive surgery most hereditary diseases however are incurable now scientists in gene laboratories are using d. . in a scissors to directly intervene in human cells with the hope of repairing them the grief. we get a lot of e-mails and letters from people with genetic diseases asking us to help them. out of this in but we can't yet because the technologies we are developing still have to be tested in clinical trials and this is what we need to get to survive. we're still far from finding a cure for all hereditary diseases but what professor who holds and his team can do is astonishing they took cells infected with hiv and completely removed the genome that had introduced the virus so far that work is limited to animal experiments but this progress is a sensation for the scientific community d.n.a. scissors have prompted the kind of excitement that surgery once did in the 19th
century. surgery as it's often called could assume a similar important. i'm going to predict that 50 years from now we'll probably see as many people undergoing genome surgery as the conventional kind. professor who called his team aims to find a cure for hemophilia using cells donated by a boy who has the hereditary bleeding disorder the scientists are well acquainted with the mutation in question it's caused by a piece of d.n.a. being the wrong way around and as a result impossible for cells to read this prevents them from forming a particular clotting factor that's needed for a wound to heal. the. really kind of life now this is this. is what we have essentially created is an enzyme that can correct this by turning that piece of d.n.a. back in the right direction and. we hope that we will be able to implement this in
actual treatment so this will take time. as we know from many other drugs that already exist you have to proceed very carefully with a limited number of patients. and see whether there are undesirable side effects for all that we're doing this is the very 1st time that these new technologies are being tried out so we have to be careful. researchers are altering cells in the lab the next step will be animal testing only later will they move on to tests on humans if successful. would no longer need medication even if they would still pass on the genetic defect researchers would only be able to completely cure the disease if they could alter the germ cells from which humans develop in germany this is prohibited by the embryo protection act. human kind or be trying to change future generations and that raises problems there always be a danger like with nuclear energy or the atom bomb. when you then have those kinds
of weapons or some other new technology you can use them to do good of course to do something not so good. intervening in human genetic lineage is for now considered to risk. any changes to the genetic material in a fertilized egg cell would be irreversible this edits would not only affect the patient in question but also all of their descendants and that on a wider scale would mean changing humankind's genealogy with unforeseeable consequences and dangers how those alter genes would interact with other sections of the genome is still completely unknown territory for researchers. does not believe her genetic defect will be cured. she has her own answer to the illness just living with it. i don't see it as my enemy anymore. i've
come to terms with it i do my occupational therapy and my yoga i enjoy my life and i think that's the best form of therapy. no wobbles i'm so proud. he's. my speech has really improved. my my study or on my feet with that is i am now able to walk along a straight line. i can now do this test to get them out of my fingers to go all over the place agree to everywhere but not on my nose and you learn to ride on your then my neurologist or thrilled. occupational therapy physical therapy and today speech therapy every week yana undergoes a mammoth program to maintain her motor faculties for as long as possible as they leave what i have trouble finding words like yesterday so let's roll the dice.
this is an exercise to counter anomic aphasia a difficulty retrieving words yanna has to create a word from the letters the dice throw up a complex task. but once she masters. hand. it's not like. the neurologists talk about statistics. and i then say that means nothing you have no idea how the illness is progressing. you have all you have is a couple of 100 people across the entire country and then you produce your statistics from that. that no way i don't buy it. because. can we shift the statistics in our favor catalin also undergoes
a tough workout regimen at least 3 times a week designed to prevent a relapse she's now part of a study that aims to prove that exercise and a mediterranean diet can help the risk of recurring tumors. it isn't he that's the hope if you eat healthy food and exercise regularly that practically has the same benefits as the chemotherapy i did prevention so you don't suffer a relapse that means reducing stress doing exercise and eating healthily and pounds for being. there to make you my own contribution to ensuring that no new mutation develops that's the hope and i do notice i feel better it's been a mixed. researchers still have no reliable data on whether a mediterranean diet can also protect people with cancer genes from getting tumors 5 years after her cancer diagnosis patton has not had
a relapse. i have an ultrasound scan done twice a year they just check if everything is ok and once a year i have an m.r.i. because there's still some residual gland tissue and there's still the danger that something might develop. their appointments that are always emotionally charged and then. catch one tries to ensure her daily diet includes 4 spins of all of oil fruit vegetables and plenty of fish as is common in mediterranean countries. by. was. what role to our genes play or lifestyle. stefan is an architect and has a keen interest in understanding his body with that in mind he recently joined a long term study called narco. not cool.
is this more you. need to talk on. the. fact i already knew about the study from a friend of mine because he'd been selected himself he raved about it. so when i got the letter saying i'd been selected i knew i had to do it. he was one of 200000 people selected at random. stefan has a scan done every 4 and a half years and gives the study organizers personal data from his health insurance company as well as regular updates on his eating habits call on a voluntary basis. this is this test your sense of smell. from shoe leather and pins for every line.
extension to salesman it's nice to see the individual treatment i get and how they give me a comprehensive check from my gut feeling i feel pretty healthy but of course there's always the possibility that the results might prove me wrong. stephan is currently in the best of health but the survey will continue for at least 30 years the genetic material from his blood now in deep freeze storage will be available for future research. says your sig shot we have a lot of users today we have been fueling mention concordant convicted peters crepes of pets in fact on canoes eat fruit if you are absolutely and appalled me.
because if you're bored on frog condemn it modelled on the mark on include your nose about its future. the survey is the biggest population base study to date in germany is critical voices in the scientific community are a small minority for professor cilia some ascii studies like this could revolutionize the medical world as we know it. you have to think really hard about what it means when you tell me i could get cancer in 5 years time or cardiovascular disease in 10 years. that's just a could a prediction based on statistics on but i'm identified as a risk carrier and i'm supposed to behave accordingly i mean fire people generally get treated when they fall ill in the future scientists will be able to identify a growing number of risk factors even in healthy individuals leading to everyone
becoming prospective patients. in the early potentially we all carry risk factor of them as he has i'm sure there is also a strategic aspect to this type so it's possible to earn money by defining people are sick and in need of treatment counted if union or 150 to different. if the starting point for a medical need for treatment is no longer the patients feeling ill but risks that can be ascribed to people which will increase the more studies you do. then soon everyone will be a patient. are we in danger of creating a health care system that has us under permanent surveillance and on constant alert based on probabilities and not certainties. as a bowel cancer patient it's important for melanie to monitor her health a few days ago the screening showed she had no metastases she's now waiting for
another test result. people would be great not to have this genetic predisposition meaning i simply got unlucky and would not be passing it on to my children. that is the risk bit to $5050.00 but i got the wrong 50 so i do have mixed feelings. if you. will. receive. and melanie is about to find out whether she has the predisposition for bell cancer . or if the cancer developed by chance. as much progression in let's start with the results we carried out an examination into the frequency of colon cancer genes and did not detect any mutations that would identify you as a carrier of
a ready terry to my disease. that's great because it's you know. there's a high so we can now cross off a whole range of diseases from the list. you get this also means that we don't as such have any evidence that you have a genetic mutation that you could pass on to any offspring. good. to have any questions not for now i'm just relieved it's good it's. such a relief that. we can some might have been caused by bad luck or my lifestyle or something else but it's not genetic not a known genetic problem at least. and a problem that isn't there can't be passed down. so that's good news. melanie has been given the all clear for the time being. we can say now is that with the technology and the knowledge we currently have at our disposal we have not found
any evidence of anything unusual but in a few years' time it may be a quite different scenario thanks to further insights and advances in genetic diagnostics technology so why don't. she when geneticists can currently test for around 100 individual genetic mutations that lead to cancer what are known as monitored genic diseases most genetic disorders however involve a number of genes these poly genic diseases are far more complex and difficult to identify for these to be discovered there would 1st have to be larger scale studies with more volunteers. able to detect and show changes in a range of different people where you wouldn't expect them. that sense there is no such thing as a genetically healthy individual. or you can do is break it down into individual genetic predispositions and say everything is normal with regard to
a particular predisposition if there is a normal healthy individuals carry mutations that could lead to problems in their progeny. catlin is glad that her cancer gene was identified with personalized therapy she might not have survived but for her both the treatment and gene diagnosis mean she can't have children. having this genetic predisposition i wouldn't have wanted to risk passing it on but rather be a one way street and say stop this is far enough i'd rather be the art who has fun with other people's children than bringing my own kids into the world and then you better read. catcher in has learned to live with her genetic defect and the permanently higher risk of developing cancer again. there are moments where i think why did i have to have double bad luck. getting cancer in itself was bad enough but then you into the water which is no help it
only makes me angry so i just accepted a move on here as well. and i plan my life one year at a time as for later let's see what happens i'm going to take things as they come and. i. yana is not resigned to her fate either despite her serious genetic defect. of course i'm scared and but there are different types of fear. a fear that eats away at your mind and soul and a fear that protects you from making unwise decisions in life. i have that natural
fear not the one that torments you. kate when you look at the camera going on of course now let's see a bit of that power smile when it comes back down and has a lot of plans today she's having professional photos done for professional reasons she gets a pension but still works as an etiquette coach to the amazement of her doctors. who also saw through that i just decided that we're going to do this again every couple of years and it's for me but because you never know anything. and since will i end up in a wheelchair can we make the neurologist say yes i say no. to those per month right now and then get him as i don't want to self-fulfilling prophecy that if i'm constantly thinking about possibly ending up in a wheelchair or dying then it will happen. so instead i imagine being 70 and still walking around elegantly with my cane and covered in bling and everything's going
to turn out fine. it's a result of the same. song . no wonder. your goal. plenty of emotion. is to get. you to minutes on double.
fake hair and real story. where i come from a lot of women who. have. fécamp sometimes a hairstyle takes up to 2 a day. it's a lot of time that needs to be filled so people at the salon talk about what's happening in their lives. i became a journalist to be a storyteller and i always want to find those real authentic stories from everyday people who have something to share. with others i must find at the salon i know a good quality here when i see it and then good story when i hear it my name is elizabeth chong and i work at steve. down in the book you are no one on. the line we flew the coop exposing injustice global news that matters to me for months.
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coming up ahead. now let's see a bit of that power smile what it is our health predetermines from birth 5 years ago young i was diagnosed with a genetic brain defect i was so down i could only see the bad side of everything and i felt really sorry for myself and i. doctors told her that her several belen and shrinking. can be a burden i came to terms with it i said ok so you're there but now i'm in charge again when the fear factor what impact can we have ourselves and how much is determined by the genes our parents passed on to us our character and constitution but also our predisposition for illnesses such as all timers heart disease and cancer. human geneticists are discovering a growing number of risks genes but how much do we want to know now that we have
modern d.n.a. tests that enables us to perform analyses that would not have seem possible 5 years ago it's fantastic this is why we are discovering such an incredible amount right now it's considered patent discovered a lump in her breast a subsequent analysis revealed. old that she has a cancer gene. had to know i had an 80 percent statistical probability of developing cancer at some point in my life and no matter how healthily mindfully and harmoniously i live my life that probability would not get any smaller. diagnosing disorders in our genes that have already developed is one thing but modern genetic tests promise far more they can calculate the risks we will face in the future even if we are healthy for the time being. what liabilities are harbored in our genes and how much do we want to know about the risks they pose. knowledge that determines how we live and how we might die. or how
the downside to genetic results actions is that they can make the patient become fixated on a future development that may never happen. in mine alternately nobody can project my future it. yana our lives on the german island of lucan her fate seems to have been sealed by her genetic makeup she has a hereditary disease that is causing part of her brain to teach generate when. you lose all of your motor skills that means the ability to walk or to talk or to pick
things up live. in just because i've been down to prevent myself to get angry sometimes i had a fall this morning and really hurt myself that that's how things are it's just dumb. i know i'm like. him i wrecked my glasses her friend an optician is always there to comfort her after a fall through this place. where she cannot help yana today his with her glasses which are history and. yet his condition is progressive the diagnosis was a shock and so i was terrified because initially the doctors couldn't say how rapidly it with progress this is they were talking about wheelchairs and it ending awfully. and that my life expectancy would no longer be the same as that of a healthy individual. so how long could she live how long will she still be able to
talk and move around before she loses all of her motor faculties yana has a genetic predisposition for the condition which went unnoticed for the 1st 40 years of her life. after starting out in the restaurant trade she retrained as an image consultant and etiquette coach always demanding perfection of herself her final career move director of an apartment house while also being a single mother. she worked up to 60 hours a week continually pushing herself to the limit. just say this disease normally arises in elderly people i was too young that when you permanently exceed your mental and physical limits on eventually you'll pay the price. and. the young to ignore the initial symptoms of her illness lapses in concentration to spells of dizziness she attributed everything to
her growing workload. that one night after another particularly stressful day swerved to avoid an oncoming car and drove into a tree was. gonna survive the crash more or less unhurt but then a doctor discovered some odd symptoms. asked me to walk along a straight line i tried but couldn't but. i had to stand on one leg he stood right next to me because he guessed what might happen and when i tried to stand on one leg i fell over. with doctors did not guess at that time because of no family history of her condition was that it was inherent in her genes yet i went through the full gamut. consultations and examinations until finally a costly genetic test performed as part of a study provided answers how i know i have
a gene mutation that was previously unknown my age and like parents each have both the sick and the healthy chromosome clues on the guy and both my father and my mother passed the cyclone on to me so from the. how many unknown risks do we carry in our genes and how can we identify them our genome is comprised of 3200000000 blocks of d.n.a. how can we picture that number 3200000000 grains of sand would fill 20 small buckets but only one percent of our d.n.a. just 2 handfuls of sand varies from one individual to the next determining our specific size and shape our character and our propensity for illness and it's this one percent that human geneticists concentrate on it is hidden away spread across the entire genome the one percent is also the key to potential hereditary disorders
. scientists have now identified over 5000 risk genes and are constantly finding new genes that crop up together with certain diseases coming we are currently making a lot of discoveries in human genetics there have been dramatic advances in molecular genetic analysis in recent years and thanks to these new technical possibilities we can now conduct analyses that would have been unimaginable 5 years ago. the mapping of a complete human genetic code less than 2 decades ago cost billions of euros today the price for the same procedure is just a few $1000.00 and it will continue to fall as a result analyses are being performed more frequently in turn leading to the discovery of more suspicious gene mutations and then. when we find something we can check databases for other patients with changes in the same gene. and we might find 2 or 3 others somewhere in the world who have that same disease. we can then re i
dented fibers gene as a disease gene for a particular condition unconquered so that's pretty exciting. just as every patient is different so too is every gene mutation not all identified may taishan effect health and development a mutation may be harmless researchers need a large number of patients with the same mutations and same symptoms before they can identify a suspicious pattern today there are databases containing millions of genetic profiles of sick and healthy patients compiled by universities human genetics institutes and private sector companies. the databases are an invaluable treasure trove for professor. he's part of a younger generation of human geneticists whose work revolves around big data and his approach has been successful he and his team recently identified new links
between 33 genes and epilepsy. but how dependable are diagnoses when a subject is healthy like professor. i mean i don't intend to sequence my entire genome because i know how often we find ambiguous results. of it's in the case of certain changes we come across we cannot say with absolute certainty whether or not there is cause for concern. and if i don't have a specific query on a specific illness. and i then find ambiguous results in some genes that might lead to something then i'm just creating insecurity. every individual has genetic variants that can make them ill and in most cases they
only find out once they do become ill cats one was 35 when she felt a lump in her breast tests revealed she had cancer. i don't often hear phrases like a high risk patient and its growth is aggressive and i've had a pretty healthy lifestyle i didn't smoke and still don't these are all factors that indicate that the illness could be genetic if i get it without this test i very probably would have developed a new tumor and might not be here today. that. as a death and sometimes when i'm having a bad day i remind myself i'm still alive thanks to modern medicine. patton grew up in leipsic after graduating from college she spent some time in britain she was living in berlin when she became seriously ill she had the gene test done during
her chemotherapy catlin has the b.r.c.a. one gene mutation the faulty gene publicised by angelenos or the like the actress catherine had a double mastectomy to remove both breasts including the unaffected one to minimize her risk of developing cancer but this mutation also increases the likelihood of developing over arion cancer. and i'd still say your breasts you can cut off but it's a much bigger deal if it's in your abdomen. one point a doctor said that's not something you can just have checked for. if it's detected joining an examination then it's probably too late which is why a lot of doctors told me the ovaries have to go and i thought no i'm not ready to do that yet there it would be another part of me i'd have to let go of i am a human being behind these statistics not just a name or a subject in a study i'm a human being with feelings dreams and expectations they mention again and once
you're in with the. catton wants to keep her ovaries for as long as possible she's afraid of surgery and of going through menopause as a young woman because hormone therapy is taboo for b.r.c.a. one carriers she wouldn't be able to treat accompanying symptoms intense hot flashes and total hormonal imbalance caton already had such symptoms during chemotherapy she got through it with her roommate support that he was such a strain to eat anything in the morning during chemo. when it got really bad i'd have a little pillow here. that might sound cute but when i thought something i'd have to put my head down and take a time out right here at the table i just didn't have any energy. figuring out the right thing to do is a precarious balancing act recently cotton had her fallopian tubes removed in the hope of reducing the risk of ovarian cancer. if it's genetic it's never gone for
good and you always have another examination coming up or another big decision in with. thanks to genetic diagnosis people have access to an unprecedented amount of information about their state of health but how reliable is this preview of our own future and how does it affect us one of the specialist in this field is on the teaching staff here at the university of applied sciences in emden in north west germany cilia some ascii has conducted research on the dilemma facing patients when they find out about what their genes might have in store for them. the primary focus for me was on the new way that individuals are expected to make decisions that friends are over let's strictly speaking there is no right decision to make when all you're doing is choosing between different risks. it's basically a new form of gambling basing your decision on a lottery. the sociologist published her observations on genetic counseling and its
social consequences in a book called the decision trap what impact does the information have on patients and can it be too much so mirsky has also studied human genetics and analyze d.n.a. in the lab she says genes should not be equated with destiny. is good and we could be you know when we're talking about risk genes a specific change at the d.n.a. level can be a trigger but not necessarily. it might lead to a change whether visible or clinical of the kind but it also might not turn on a clinician or any orders kind of a person may have a severe mutation and still not get the. help that's here on. only a fraction of mutations are certain to lead to disease in most cases it's a question not of certainty but of probability 20 percent or 60 or 80 even with identical twins carrying the same mutation one might remain healthy geneticists
still don't know why. for professor landcare there is little ambiguity in genes which is why he calls them disease genes and not risk genes for him it's just a question of time before a person with a serious genetic defect gets sick anything else is a rare exception melanie's survived an aggressive form of intestinal cancer she underwent chemotherapy radiation and extensive surgery which included the creation of an artificial rectum he's been sent to us from nuremberg due to a suspected hereditary form of intestinal cancer. since. my father was born in 1957 he also had bowel cancer 10 years ago and cancer in his lymph nodes. how old was he when he was diagnosed with colorado cancer and the so he must have been around 50 so it all hit him just before the age when you get preventive treatment when the lymphoma was immediately apparent and the
intestinal cancer only after i urged him to have a colonoscopy due to the likelihood of a hereditary risk. and then they said it was too late they did remove something it turned out to be a. cause with my parental grandmother is now dead she apparently carried on smoking bright up until the end and never had cancer. but her mother probably did. well. do you know what kind is that as far as i could tell it was intestinal but i can't say for sure but there's a significant history of cancer on my father's side. all correct cancer is one of the most common forms of cancer genetic counseling also looks at the patient's family history if relatives have been ill it makes sense to perform a genetic analysis. that means if there have been several cases in that family
or individuals who became ill at a young age then we have to ask whether it's perhaps a case of regular old age related cancer or indeed you to read it or a factors. in your case you were 35 when you became ill. and your father developed cancer when he was around 50. percent of cases occurred well before the average age for the onset of age related colorectal cancer. have enough i have 2 children which is why i'm here i want to know whether they might have a genetic pre-disposition and at what point it would make sense to have them checked. if that doesn't happen until they're 35 like i was then it will be too late by then the horse is already bolted i'd like to ask what
age would be advisable 152025. i just want to minimize the risk for my family. crowds and if we enters a tain this patients predisposition with are 100 percent certainty from a genetic test then it's very likely that she will have inherited it from her father and as i mentioned earlier there will be a 50 percent chance in each case of her having passed it on to her daughter's that it could be the both half inherited it or niver have or one has and the other hasn't been your myth capital cost melanie had to formally sign an agreement for the genetic test as is required under german law her daughter's cannot have the analysis don until the are $18.00 since hereditary bal cancer does not develop they for adult hood tests on children are only permitted if they
already have a disease of unknown cause which going to be need to test i think genetic testing won't become increasingly standard practice and become increasingly comprehensive with a was a relatively sure that at some point it will be standard practice by and performing a genetic analysis during childhood to examined the entire genome rather been just look for one or 2 specific genes or conduct a test pattern it's because empirics all what it was camp let him out eventually become routine for new borns to undergo a complete genome analysis just like was new born screening i'm for that dated to be stored on a smart card after trip product because your eventually perhaps but not yet in germany people have a right not to know the results of genetic tests but can that information be concealed when a hereditary condition has been diagnosed in an individual's family and what impact does knowledge of the risk
a future illness have with her rare condition yano still has to go about her daily life the 1st thing she thought about when she was diagnosed was her child and on my son was 12 and i started to panic i was terrified and my biggest fear was that my son might get it because genetic means hereditary in the. but human geneticists have assured her that the probability of her son developing the same disease is very low yanna herself inherited the genetic defect from both her father and her mother and it's only in combination that the mutation leads to illness hers is a rare case her son is protected by his 2nd most likely healthy paternal chromosome . then there have been a coke but if he gets married and at some point plans to have children then i'll have to take my results to a human genetics institute and get themselves tested. this is the way the world is headed anyway with the eventually we'll only have genetically flawless people being
born. month interim but he should get himself tested and. at the us. for now it's a subject they don't talk about at home or wants to spare her son now 17 unnecessary worry about risks and probabilities he. told us i am watching him. and you are what you think. is right now for us this information on my son that he might get preoccupied with it and then there's a high probability of him getting some pseudo disorder so i'm not going there with scientific studies have shown that nearly worrying about a disease can make you ill like the placebo effect except it works in the other direction if we expect to get sick we can develop symptoms a medical prognosis can change how we see ourselves and others. and i mention test when you test a person you what we've glean at least potential information on their family
members to. decisions are never taken in isolation they always include relatives and especially when there's a genetic factor there will always be other people potentially affected. the diagnosis of a genetic illness is a shock as much to an individual as to their family members. 6 catlin has come to life to visit friends and her parents when she found out that her breast cancer was genetic it unleashed a series of questions who did the mutation come from until then there'd been no known history of the disease in her family. her mother then also had herself tested to find out whether she could likewise develop cancer. while there it was a very staid and boring appointment just terrible. i still remember how afterwards we went and bought some sunflowers of. i might have had something
to and i wanted to know who was responsible for illness whether it was me or my husband of course you can't blame anybody and they can't do anything anyway and i had the test done and was then a little bit reassured. but for country i'm so dreadfully sorry for her. but there's nothing one can do. anything factually days you were cranky and really angry. i was a cranky it just hurts so much to know that we passed it on to you catron of a. time i could have dealt with a lot of other things but why this beating. them that it's an extremely rare cases the mutation is not hereditary but arises spontaneously normally if the mother does not have the breast cancer gene then it must come from the father twins has refused to undergo a genetic test. it's kind of like can understand that because then you have it in
writing and there's no denying it if my father says he's now so old anyway and doesn't want that that i have to accept it. were cancer genes are involved patients in germany are provided with screenings and preventive surgery most hereditary diseases however are incurable now scientists in gene laboratories. using d.n.a. scissors to directly intervene in human cells with the hope of repairing them quickly feel. we get a lot of e-mails and letters from people with genetic diseases asking us to help them see. through to the person but we can't yet because the technologies we are developing still have to be tested in clinical trials and. we're still far from finding a cure for all hereditary diseases but what professor who holds and his team can do is astonishing they took cells infected with hiv and completely removed the genome that had introduced the virus so far that work is limited to animal experiments but
this progress is a sensation for the scientific community d.n.a. scissors have prompted the kind of excitement that surgery once did in the 19th century. to think it has to. turn on the surgery as it often could assume a similar important. i'm going to predict that 50 years from now we'll probably see as many people undergoing genome surgery as the conventional kind. professor who called his team aims to find a cure for hemophilia using cells donated by a boy who has the hereditary bleeding disorder the scientists are well acquainted with a mutation in question it's caused by a piece of d.n.a. being the wrong way around and as a result impossible for cells to read this prevents them from forming a particular clotting factor that's needed for a womb to heal. the. really kind of life now this is this.
is what we have essentially created as an enzyme that can correct this by turning the piece of d.n.a. back in the right direction and. we hope that we will be able to implement this in actual treatment so this will take time. as we know from any other drugs that already exist i mean you have to proceed very carefully with a limited. patients and see whether there are undesirable side effects for all that we're doing this is the very 1st time that these new technologies are being tried out so we have to be careful. researchers are altering cells in the lab the next step will be animal testing only later will they move on to tests on humans if successful. would no longer need medication even if they would still pass on the genetic defect researchers would only be able to completely cure the disease if they could alter the germ cells from which humans develop in germany this is prohibited by the embryo protection act. human kind or be trying to change future
generations and that raises problems there'll always be a danger like with nuclear energy or the atom bomb. when you then have those kinds of weapons or some other new technology you can use them to do good of course to do something not so good. intervening in human genetic lineage is for now considered to risk. any changes to the genetic material in a fertilized egg cell would be irreversible this edits would not only affect the patient in question but also all of their descendants and that on a wider scale would mean changing humankind's genealogy with unforeseeable consequences and dangers how those altered genes would interact with other sections of the genome is still completely unknown territory for researchers. does not believe her genetic defect will be cured. she has her own answer to the illness
just living with it. i don't see it as my enemy anymore. i've come to terms with it i do my occupational therapy and my yoga i enjoy my life and i think that's the best form of therapy. no wobbles i'm so proud. my speech has really improved. my my steady are on my feet with that if i am now able to walk along a straight line. i can now do this test my finger used to go all over the place agreed to everywhere but not on my nose. then my neurologist are thrilled that. occupational therapy physiotherapy and today speech therapy every week yana undergoes a mammoth program to maintain her motor faculties for as long as possible as
a void and i have trouble finding words like yesterday that i so let's roll the dice. this is an exercise to counter anomic aphasia a difficulty retrieving words yana has to create a word from the letters the dice throw up a complex task. but once she masters. oh. and thought oh it's not like. the bottom. oh yes. the neurologists talk about statistics. and i can say that means nothing you have no idea how the illness is progressing. all you have is a couple of 100 people across the entire country and then you produce your statistics from that is. no way i don't buy it.
with us. can we shift the statistics in our favor cattle and also undergoes a tough workout regimen at least 3 times a week designed to prevent a relapse she is now part of a study that aims to prove that exercise at a mediterranean diet can help the risk of recurring tumors. it isn't he that's the hope if you eat healthy food and exercise regularly that practically has the same benefits as the chemotherapy i did prevention so you don't suffer a relapse that means reducing stress doing exercise and eating healthily abounds for being. there to make you my own contribution to ensuring that no new mutation develops that's the hope and i do notice i feel better. to spend the next weekend. researchers still have no reliable data on whether
a mediterranean diet can also protect people with cancer genes from getting tumors 5 years after her cancer diagnosis patton has not had a relapse. if you have family in the i have an ultrasound scan done twice a year they just check if everything is ok and once a year i have an m.r.i. because there's still some residual gland tissue and there's still the danger that something might develop on their appointments that are always emotionally charged and then. catch one tries to ensure her daily diet includes things of all of oil fruit vegetables and plenty of fish as is common in mediterranean countries. like vietnam but it was. what role to our genes play or lifestyle. stefan is an architect and has a keen interest in understanding his body without
a mind he recently joined a long term study called narco. now of course. is the marker for the folks. you need to show for. it can indeed do the. fact i already knew about the study from a friend of mine because he'd been selected himself he raved about it. so when i got the letter saying i'd been selected i knew i had to do it. he was one of 200000 people selected at random. stefan has a scan done every 4 and a half years and gives the study organizers personal data from his health insurance company as well as regular updates on his eating habits all on
a voluntary basis. says this test your sense of smell. shoeleather rest easy and pins for every line. scan churn to save this month it's nice to see the individual treatment i get and how they give me a comprehensive check from my gut feeling i feel pretty healthy but of course there's always the possibility that the results might prove me wrong. stephan is currently in the best of health but the survey will continue for at least 30 years the genetic material from his blood now in deep freeze storage will be available for future research.
says your city of about 3 of them a lot of these are 2 different fusion mention concrete and convicted you have the aegis traipse and hats in fact on canoes eat fruit if you have absolutely. name. because if you're doing frog condemn it modelled on the mark on include your nose about its future for standoff is a quarter. the survey is the biggest population based study to date in germany critical voices in the scientific community are a small minority for professor cilia some ascii studies like this could revolutionize the medical world as we know that. you have to think really hard about what it means when you tell me i could get cancer in 5 years time or cardiovascular disease in 10 years. that's just a could a prediction based on statistics when but i'm identified as a risk carrier and i'm supposed to behave accordingly i mean fire people generally
get treated when they fall ill in the future scientists will be able to identify a growing number of risk factors even in healthy individuals leading to everyone becoming prospective patients. in tears in the early potentially we all carry a risk factor of them of these and there's also a strategic aspect to this type so it's possible to earn money by defining people are sick and in need of treatment counted if union or 150 to different. if the starting point for a medical need for treatment is no longer the patients feeling ill but risks that can be ascribed to people which will increase the more studies you do. then soon everyone will be a patient. but. are we in danger of creating a health care system that has us under permanent surveillance and on constant alert based on probabilities and not certainties. as
a bell cancer patient it's important for melanie to monitor her health a few days ago the screening showed she had no metastases she's now waiting for another test result. behavior people would be great not to have this genetic predisposition meaning apply simply got unlucky and would not be passing it on to my children. that is the risk there too is $5050.00 but i got the wrong 50 with him and if so i do have mixed feelings. if you. listen to. this melanie is about to find out whether she has the predisposition for bell cancer. or if the cancer developed by chance. was much progression in let's start with the results we carried out an examination
into the frequency of colon cancer genes and did not detect any mutations that would identify you as a carrier of a hereditary tumor disease. that's great if it's. as high so we can now cross off a whole range of diseases from the list. you get this also means that we don't as such have any evidence that you have a genetic mutation that you could pass on to any offspring. good. to have any questions not for now i'm just relieved it's good it's. such a relief. that. we can some might have been caused by bad luck or my lifestyle or something else but it's not genetic not a known genetic problem at least. and a problem that isn't there can't be passed down. so that's good news. melanie has
been given the all clear for the time being because we can say now is that with the technology and the knowledge we currently have at our disposal of we have not found any evidence of anything unusual but in a few years' time it may be a quite different scenario thanks to further insights and advances in genetic diagnostics technology so why don't think of. human geneticists can currently test for around 100 individual genetic mutations that lead to cancer what are known as modern genic diseases most genetic disorders however involve a number of genes these poly genic diseases are far more complex and difficult to identify for these to be discovered there would 1st have to be larger scale studies with more volunteers. able to detect and show changes in a range of different people where you wouldn't expect them to. sense there is no
such thing as a genetically healthy individual. or you can do is break it down into individual genetic predispositions and say everything is normal with regard to a particular predisposition if there is a normal at all healthy individuals carry mutations that could lead to problems in their progeny. katherine is glad that her cancer gene was identified with a personalized therapy she might not have survived but for her both the treatment and gene diagnosis mean she can't have children. having this genetic predisposition i wouldn't have wanted to risk passing it on but rather be a one way street and say stop this is far enough i'd rather be the art who has fun with other people's children than bringing my own kids into the world in their new bed to their. cattle and has learned to live with her genetic defect and the permanently higher risk of developing cancer again.
there are moments where i think why did i have to have double bad luck. getting cancer in itself was bad enough but then you into the water which is no help it only makes me angry so i just accept it and move on the tears are much lighter. and i plan my life one year at a time as for later let's see what happens i'm going to take things as they come and. i. think. yanna is not listening to her fate either despite her serious genetic defect. of course i'm scared and but there are different types of fear. a fear that eats
away at your mind and soul and a fear that protects you from making unwise decisions in life and i have that natural fear not the one that torments you. ok when you look at the camera going on of course now let's see a bit of that power smile when it comes back down and has a lot of plans today she's having professional photos done for professional reasons she gets a pension but still works as an etiquette coach to the amazement of her doctors. who also. have just decided that we're going to do this again every couple of years and it's for me but because you never know. when it will end up in a wheelchair. then you're all just say yes i say no. to those monk eyes is thank him as i don't want a self-fulfilling prophecy if i'm constantly thinking about possibly ending up in
a wheelchair or dying and then it will happen. so instead i imagine being 70 and still walking around elegantly with my cane and covered in bling and everything's going to turn out fine. it's all over the back of the. soccer balls favor. no wonder. they are going. to remote.
past games. in 30 minutes on d w. a dirty business with billions of euros. much of the rubble used to make. incomes comes time. construing under plantations the starvation wages in the stream i'm told the conditions in the german manufacturer is not in flames because we're hearing exert pressure all the way down to front. closely. carefully.
what a strange islander centrist pentagons neither other parties agree largely to be able to secure a parliamentary majority dances called for our unity government. our brian todd is up next and read it will be with you with more news at the top of the hour for now for me the entire team thanks for being here and have a great. first day at school in the jungle. or 1st cloning lesson from the doors grand the moment arrives. joining a regular chain on her journey back to freedom. in our interactive documentary during an orangutan returns home monday w. don't come to tanks.
now let's see a bit of that power smile. is our health predetermines from birth 5 years ago young i was diagnosed with a genetic brain defect i thought i was so down i could only see the bad side of everything and i felt really sorry for myself and i. doctors told her that her sarah palin is shrinking. chemists have been i came to terms with it i said ok so you're there but now i'm in charge again if the need for it is shared what impact can we have ourselves and how much is determined by the genes our parents passed onto us our character and constitution but also our predisposition for illnesses such as on timers heart disease and cancer. human geneticists are discovering a growing number of risk genes but how much do we want to know now that we have modern d.n.a. tests that have converged enables us to perform analyses that would not have seemed possible 5 years ago it's fantastic. this is why we are discovering such an
incredible amount right now it's considered patent discovered a lump in her breast a subsequent analysis revealed that she has a cancer gene. that had an i had an 80 percent statistical probability of developing cancer at some point in my life and no matter how healthily mindfully and harmoniously i live my life that probability would not get any smaller. diagnosing disorders in our genes that have already developed is one thing but modern genetic tests promise far more they can calculate the risks we will face in the future even if we are healthy for the time being. what liabilities are harbored in our genes and how much do we want to know about the risks they pose. knowledge that determines how we live and how we might die. physical for house on the down side to genetic risk objects and says that they can make the patient become fixated on a future development that may never happen. in mind ultimately nobody can project
my future exploration in my possibly. young lives on the german island of lucan her fate seems to have been sealed by her genetic makeup she has a hereditary disease that is causing part of her brain to teach generate when. you lose all of your motor skills that means the ability to walk or to talk or to pick things up this 5. because i now permit myself to get angry sometimes i had a fall this morning and really hurt myself that that's how things are it's just my
god. i'm not good enough. if i wrecked my glasses her friend an optician is always there to comfort her after a fall through this place. where she cannot help ya today his with her glasses which are history problems and. yet his condition is progressive the diagnosis was a shock. so i was terrified because initially the doctors couldn't say how rapidly it with progress this is they were talking about wheelchairs and it ending awfully . and that my life expectancy would no longer be the same as that of a healthy individual. so how long could she live how long will she still be able to talk and move around before she loses all of her motor faculties yanna has a genetic predisposition for the condition which went unnoticed for the 1st 40
years of her life. after starting out in the restaurant trade she retrained as an image consultant and etiquette coach always demanding perfection of herself her final career move director of an apartment house while also being a single mother. she worked up to 60 hours a week continually pushing herself to the limit. and they are all just say this disease normally arises in elderly people i was too young that when you permanently exceed your mental and physical limits on eventually you'll pay the price. and. the young to ignore the initial symptoms of her illness from lapses in concentration to spells of dizziness she attributed everything to her growing workload. then one night after another particularly stressful day swerved to avoid an oncoming car and drove into
a tree was. gonna survive the crash more or less unhurt but then a doctor discovered some odd symptoms. he asked me to walk along a straight line i tried but couldn't. do that i had to stand on one leg he stood right next to me because he guessed what might happen and when i tried to stand on one leg i fell over. what doctors did not guess at that time because of no family history of her condition was that it was inherent in her genes yet i went through the full gamut. consultations and examinations until finally a costly genetic test performed as part of a study provided answers. i have a gene mutation that was previously unknown my age and my parents each have both of the sick and the healthy chromosome clues on the end of my father and my mother
passed the thick one on to me before. how many unknown risks do we carry in our genes and how can we identify them our genome is comprised of 3200000000 blocks of d.n.a. how can we picture that number 3200000000 grains of sand would fill 20 small buckets but only one percent of our d.n.a. just 2 handfuls of sand varies from one individual to the next determining our specific size and shape our character and our propensity for illness and it's this one percent that human geneticists concentrate on it is hidden away spread across the entire genome the one percent is also the key to potential hereditary disorders . scientists have now identified over 5000 risk genes and are constantly finding new genes that crop up together with certain diseases coming we are currently
making a lot of discoveries in human genetics there have been dramatic advances in molecular genetic analysis in recent years and thanks to these new technical possibilities we can now conduct analyses that would have been unimaginable 5 years ago. as the mapping of a complete human genetic code less than 2 decades ago cost billions of euros today the price for the same procedure is just a few $1000.00 and it will continue to fall as a result analyses are being performed more frequently in turn leading to the discovery of more suspicious gene mutations and. when we find something we can check databases for other patients with changes in the same gene. and we might find 2 or 3 others somewhere in the world who have that same disease. but we can then be identify those gene as a disease gene for a particular condition unconquered so that's pretty exciting.
just as every patient is different so too is every gene mutation not all identified mutations affect health and development a mutation may be harmless researchers need a large number of patients with the same mutations and same symptoms before they can identify a suspicious pattern today there are databases containing millions of genetic profiles of sick and healthy patients compiled by universities human genetics institutes and private sector companies. the databases are an invaluable treasure trove for professor he's part of a younger generation of human geneticists whose work revolves around big data and his approach has been successful he and his team recently identified new links between 33 genes and epilepsy. but how
dependable are diagnoses when a subject is healthy like professor. i don't intend to sequence my entire genome because i know how often we find ambiguous results. of us in the case of certain changes we come across we cannot say with absolute certainty whether or not there is cause for concern. and if i don't have a specific query on a specific illness. and i then find ambiguous results in some genes that might lead to something then i'm just creating insecurity. every individual has genetic variants that can make them ill and in most cases they only find out once they do become ill cats one was 35 when she felt a lump in her breast tests revealed she had cancer.
i don't often hear phrases like a high risk patient and its growth is aggressive and i've had a pretty healthy lifestyle i didn't smoke and still don't these are all factors that indicate that the illness could be genetic. without this test i very probably would have developed a new tumor and might not be here today. that hard to go. as a death and sometimes when i'm having a bad day i remind myself i'm still alive thanks to modern medicine. patton grew up in life sick after graduating from college she spent some time in britain she was living in berlin when she became seriously ill she had the gene test done during her chemotherapy catlin has the b.r.c.a. one gene mutation the faulty gene publicised by angelenos or the like the actress
catherine had a double mastectomy to remove both breasts including the unaffected one to minimize her risk of developing cancer but this mutation also increases the likelihood of developing over arion cancer. and i'd still say your breasts you can cut off but it's a much bigger deal if it's in your abdomen. at one point a doctor said that's not something you can just have checked for. if it's detected joining an examination then it's probably too late which is why a lot of doctors told me the ovaries have to go and i thought no i'm not ready to do that yet there it would be another part of me i'd have to let go of i am the human being behind these statistics i'm not just a name or a subject in a study i'm a human being with feelings dreams and expectations. within and once you're on the internet and. caton wants to keep her ovaries for as long as possible she's afraid of surgery and of going through menopause as
a young woman. because hormone therapy is taboo for b.r.c.a. one carriers she wouldn't be able to treat accompanying symptoms intense hot flashes and total hormonal imbalance caton already had such symptoms during chemotherapy she got through it with her roommate support as he was such a strain to eat anything in the morning during chemo. when it got really bad i'd have a little pillow here. that might sound cute but when i thought something i'd have to put my head down and take a time out right here at the table i just didn't have any energy in the eyes. figuring out the right thing to do is a precarious balancing act recently cotten had her fallopian tubes removed in the hope of reducing the risk of ovarian cancer. if it's genetic it's never gone for good you always have another examination coming up or another big decision in with . thanks to genetic diagnosis people have access to an unprecedented amount of
information about their state of health but how reliable is this preview of our own future and how does it affect us one of the specialists in this field is on the teaching staff here at the university of applied sciences in emden in northwestern many silly as a mask he has conducted research on the dilemma facing patients when they find out about what their genes might have in store for them. the primary focus for me was on the new way that individuals are expected to make decisions afghans are about let's strictly speaking there is no right decision to make when all you're doing is choosing between different risks. it's basically a new form of gambling basing your decision on a lottery. the sociologist published her observations on genetic counseling and its social consequences in a book called the decision trap what impact does the information have on patients and can it be too much some ascii has also studied human genetics and analyze
d.n.a. in the lab she says genes should not be equated with destiny. when we're talking about risk genes a specific change at the d.n.a. level can be a trigger but not necessarily. it might lead to a change whether visible or clinical i think can but it also might not see following a clinician or or this kind of person may have a severe mutation the and still not get. the help that the on one platform he conquered only a fraction of mutations are certain to lead to disease in most cases it's a question not of certainty but of probability 20 percent or 60 or 80 even with identical twins carrying the same mutation one might remain healthy geneticists still don't know why. for professor there is little ambiguity in genes which is why he calls them disease genes and not risk genes for him it's just
a question of time before a person with a serious genetic defect get sick anything else is a rare exception melanie's survived an aggressive form of intestinal cancer she underwent chemotherapy radiation and extensive surgery which included the creation of an artificial rectum. been sent to us from nuremberg due to a suspected hereditary form of intestinal cancer. my father was born in 1957 he also had bowel cancer 10 years ago and cancer in his lymph nodes on the move wasn't. how old was he when he was diagnosed with color rectal cancer i must tell you must have been around 50 or so it all hit him just before the age when you get preventive treatment of the lymphoma was immediately apparent and the intestinal cancer only after i urged him to have a cold and asked the likelihood of a hereditary risk and then they said it was too late they did remove something it
turned out to be a. course with my parental grandmother is now dead she apparently carried on smoking right up until the end and never had cancer. but her mother probably did. we're all. do you know what kind is that as far as i could tell it was intestinal but i can't say for sure but there's a significant history of cancer on my father's side. rectal cancer is one of the most common forms of cancer genetic counseling also looks at the patient's family history if relatives have been ill it makes sense to perform a genetic analysis. that means if there have been several cases in that family or individuals who became ill at a young age then we have to ask whether it's perhaps a case of regular old age related cancer or indeed you to read it or
a factors. to give your case you were 35 when you became ill. and your father developed cancer when he was around 50. percent of cases occurred well before the average age for the onset of age related colorectal cancer. there's a sort. of for i have 2 children which is why i'm here i want to know whether they might have a genetic predisposition and at what point it would make sense to have them checked . if that doesn't happen until they're 35 like i was then it will be too late by then the horse is already bolted i'd like to ask what age would be advisable 152025 for. i just want to minimize the risk for
my family. if we're going to tame this patient's predisposition with 100 percent certainty from a genetic test then it's very likely that she will have inherited it from her father . and as i mentioned earlier there will be a 50 percent chance in each case of having passed it on to her daughters but it could be that both have inherited it or neither have or one has and the other hasn't. capital melanie had to formally sign an agreement for the genetic test as is required under german law her daughters cannot have the analysis done until they are 18 since hereditary bal cancer does not develop before adult hood tests on children are only permitted if they already have a disease of unknown cause. it's going to be needed because i think
genetic testing will become increasingly standard practice and become increasingly comprehensive with a relatively sure that at some point it will be standard practice when performing a genetic analysis during childhood to examine the entire genome rather than just look for one or 2 specific genes or conduct a test pattern is going to. let him out eventually become routine for newborns to undergo a complete genome analysis just like with newborn screening and for that data to be stored on a smart card or to program. eventually perhaps but not yet in germany people have a right not to know the results of genetic tests but can that information be concealed when a hereditary condition has been diagnosed in an individual's family and what impact does knowledge of the risk of future illness have. with her rare condition yarnall still has to go about her daily life the 1st thing she thought about when she was diagnosed was her child my son was 12 and i started to panic i was terrified and my
biggest fear was that my son might get it because genetic means hereditary. but human geneticists have assured her that the probability of her son developing the same disease is very low yana herself inherited the genetic defect from both her father and her mother and it's only in combination that the mutation leads to illness hers is a rare case her son is protected by his 2nd most likely healthy paternal chromosome . then there have been a coke but if he gets married and at some point plans to have children then i'll have to take my results to a human genetics institute and get themselves tested. this is the way the world is headed anyway that eventually we'll only have genetically flawless people being born. i mention it but he should get himself tested and.
after us. for now it's a subject they don't talk about at home the other wants to spare her son now 17 unnecessary worry about risks and probabilities he. told her. i am watching him. and you are what you think is right now for us this information on my son that he might get preoccupied with it and then there's a high probability of him getting some pseudo disorder so i'm not going there. scientific studies have shown that nearly worrying about a disease can make you ill like the placebo effect except it works in the other direction if we expect to get sick we can develop symptoms a medical prognosis can change how we see ourselves and others. and don't mention test when you test a person you what we've glean at least potential information on their family members to your decisions are never taken in isolation they always include relatives and especially when there's a genetic factor there will always be other people potentially affected. the
diagnosis of a genetic illness is a shock as much to an individual as to their family members. catlin has come to life to visit friends and her parents when she found out that her breast cancer was genetic it unleashed a series of questions who did the mutation come from until then there had been no known history of the disease in her family. her mother then also had herself tested to find out whether she could likewise develop cancer. while there it was a very staid and boring appointment just terrible. i still remember how afterwards we went and bought some sunflowers of. i might have had something to and i wanted to know who was responsible for illness whether it was me or my husband of course you can't blame anybody and they can't do anything anyway and i
had the test done and was then a little bit reassured. but for country i'm so dreadfully sorry for her. but there's nothing one can do. and do anything for 10 days you were cranky and really angry. i was a cranky it just hurts so much to know that we passed it on to you catron at the. time i could have dealt with a lot of other things but why this a bit in your. extreme leigh rare cases the mutation is not hereditary but arises spontaneously normally if the mother does not have the breast cancer gene then it must come from the father. has refused to undergo a genetic test. it's kind of like can understand that because then you have it in writing and there's no denying it if my father says he's now so old anyway and doesn't want that that i have to accept it. were cancer genes are involved patients
in germany are provided with screenings and preventive surgery most hereditary diseases however are incurable now scientists in gene laboratories are using d. . scissors to directly intervene in human cells with the hope of repairing them quickly feeling. we get a lot of e-mails and letters from people with genetic diseases asking us to help them. out of this in but we can't yet because the technologies we are developing still have to be tested in clinical trials and. we're still far from finding a cure for all hereditary diseases but what professor pool halls and his team can do is astonishing they took cells infected with hiv and completely removed the genome that had introduced the virus so far that work is limited to animal experiments but this progress is a sensation for the scientific community d.n.a. scissors have prompted the kind of excitement that surgery once did in the 19th
century. to. surgery as it's often called could assume a similar important. i'm going to predict that 50 years from now we'll probably see as many people undergoing genome surgery as the conventional kind. professor who called his team aims to find a cure for hemophilia using cells donated by a boy who has the hereditary bleeding disorder the scientists are well acquainted with the mutation in question it's caused by a piece of d.n.a. being the wrong way around and as a result impossible for cells to read this prevents them from forming a particular clotting factor that's needed for a wound to heal. the. longest for any kind of life is. what we have essentially created as an enzyme that can correct this by turning the piece of d.n.a. back in the right direction and. we hope that we will be able to implement this in
actual treatment so this will take time. as we know from many other drugs that already exist you have to proceed very carefully with a limited number of patients. and see whether there are undesirable side effects for all that we're doing this is the very 1st time that these new technologies are being tried out so we have to be careful. researchers are altering cells in the lab the next step will be animal testing only later will they move on to tests on humans if successful. would no longer need medication even if they would still pass on the genetic defect researchers would only be able to completely cure the disease if they could alter the germ cells from which humans develop in germany this is prohibited by the embryo protection act. human kind or be trying to change future generations and that raises problems there'll always be a danger like with nuclear energy or the atom bomb. when you then have those kinds
of weapons or some other new technology you can use them to do good of course to do something not so good. intervening in human genetic lineage is for now considered to risk. any changes to the genetic material in a fertilized egg cell would be irreversible this edits would not only affect the patient in question but also all of their descendants and that on a wider scale would mean changing humankind's genealogy with unforeseeable consequences and dangers how those altered genes would interact with other sections of the genome is still completely unknown territory for researchers. john does not believe her genetic defect will be cured. she has her own answer to the illness just living with it. i don't see it as my enemy anymore. i've
come to terms with it i do my occupational therapy and my yoga i enjoy my life and i think that's the best form of therapy. no wobbles i'm so proud. he's. my speech has really improved. my my steady are on my feet with that is i am now able to walk along a straight line. i can now do this test to get them i like my finger used to go all over the place agreed to everywhere but not on my nose and right into your then my neurologist or thrilled. occupational therapy physical therapy and today speech therapy every week yana undergoes a mammoth program to maintain her motor faculties for as long as possible. and i have trouble finding words like yesterday so let's roll the dice.
this is an exercise to counter anomic aphasia a difficulty retrieving words yanna has to create a word from the letters the dice throw up a complex task. but once she masters. hand. it's not like. the bottom of. the neurologists talk about statistics and that can and i then say that means nothing you have no idea how the illness is progressing. you have all you have is a couple of 100 people across the entire country and then you produce your statistics from that. that no way i don't buy it. can we shift the statistics in our favor cattle and also undergoes
a tough workout regimen at least 3 times a week designed to prevent a relapse she's now part of a study that aims to prove that exercise and a mediterranean diet can help the risk of recurring tumors. it isn't he that's the hope if you eat healthy food and exercise regularly that practically has the same benefits as the chemotherapy i did prevention so you don't suffer a relapse that means reducing stress doing exercise and eating healthily and pounds for being. making my own contribution to ensuring that no new mutation develops that's the hope and i do notice i feel better. it has been a mixed working researchers still have no reliable data on whether a mediterranean diet can also protect people with cancer genes from getting tumors 5 years after her cancer diagnosis patton has not had
a relapse. if you have family and i have an ultrasound scan done twice a year they just check if everything is ok and once a year i have an m.r.i. because there's still some residual gland tissue and there's still the danger that something might develop on their appointments that are always emotionally charged i didn't. catch one tries to ensure her daily diet includes 4 spoons of all of oil fruit vegetables and plenty of fish as is common in mediterranean countries. i was like oh god. what role do our genes play or lifestyle. stefan is an architect. and has a keen interest in understanding his body with that in mind he recently joined a long term study called narco. not cool.
seal is this more you. need to shift. can indeed do fine it is a military. fact i already knew about the study from a friend of mine because he'd been selected himself he raved about it. so when i got the letter saying i'd been selected i knew i had to do it. he was one of 200000 people selected at random. stephon has a scan done every 4 and a half years and gives the study organizers personal data from his health insurance company as well as regular updates on his eating habits all on a voluntary basis. this test your sense of smell. from shoe leather and pins for every line.
from. scratch and it's nice to see the individual treatment i get and how they give me a comprehensive chank from my gut feeling i feel pretty healthy but of course there's always the possibility that the results might prove me wrong. stephan is currently in the best of health but the survey will continue for at least 30 years the genetic material from his blood now in deep freeze storage will be available for future research. for a lot of these are to the very few dimension concrete and convicted you have peter's creeps one person far done her new friend if you are absolutely.
sure because you're doing frog modelling then mark on include your nose about as fuel for us to use a quarter of. the survey is the biggest population based study to date in germany is critical voices in the scientific community are a small minority for professor cilia some ascii studies like this could revolutionize the medical world as we know that. you have to think really hard about what it means when you tell me i could get cancer in 5 years time or cardiovascular disease in 10 years. that's just a could a prediction based on statistics on but i'm identified as a risk carrier and i'm supposed to behave accordingly i mean fire people generally get treated when they fall ill in the future scientists will be able to identify a growing number of risk factors even in healthy individuals leading to everyone
becoming prospective patients. put in tears and i leave intentionally we all carry risk factors there mostly as i'm told there is also a strategic aspect to this type so it's possible to earn money by defining people are sick and in need of treatment counted if union or 150 to different. if the starting point for a medical need for treatment is no longer the patients feeling ill but risks that can be ascribed to people which will increase the more studies you do. then soon everyone will be a patient. but. are we in danger of creating a health care system that has us under permanent surveillance and on constant alert based on probabilities and not certainties. as a bell cancer patient it's important for melanie to monitor her health a few days ago a screening showed she had no metastases she's now waiting for another test result
. behave people would be great not to have this genetic predisposition meaning apply simply got unlucky and would not be passing it on to my children. is the risk there too is $5050.00 but i got the wrong 50 so i do have mixed feelings. if we are. to. harvest and melanie is about to find out whether she has the predisposition for bell cancer. or if the cancer developed by chance. as much progress with let's start with the results. we carried out an examination into the frequency of colon cancer genes and did not detect any mutations that would identify you as a carrier of
a hereditary tumour disease. that's great because. there's a high so we can now cross off a whole range of diseases from the list. you get this also means that we don't as such have any evidence that you have a genetic mutation that you could pass on to any offspring. good. to have any questions not for now i'm just relieved it's good it's. such a relief that. we can some might have been caused by bad luck or my lifestyle or something else but it's not genetic not a known genetic problem at least. and a problem that isn't there can't be passed down. so that's good news melanie has been given the all clear for the time being. we can say now is that with the technology and the knowledge we currently have at our disposal of we have not found
any evidence of anything unusual but in a few years' time it may be a quite different scenario thanks to further insights and advances in genetic diagnostics technology so i don't think of. human geneticists can currently test for around 100 individual genetic mutations that lead to cancer what are known as monitored genic diseases most genetic disorders however involve a number of genes these poly genic diseases are far more complex and difficult to identify for these to be discovered they would 1st have to be larger scale studies with more volunteers. able to detect and show changes in a range of different people where you wouldn't expect them. there is no such thing as a genetically healthy individual. or you can do is break it down into individual genetic predispositions and say everything is normal with regard to
a particular predisposition if there is a normal healthy individuals carry mutations that could lead to problems in their progeny. caton is glad that her cancer gene was identified with personalized therapy she might not have survived but for her both the treatment and gene diagnosis mean she can't have children. having this genetic predisposition i wouldn't have wanted to risk passing it on but rather be a one way street and say stop this is far enough i'd rather be the art who has fun with other people's children than bringing my own kids into the world to dead. cats one has learned to live with her genetic defect and the permanently higher risk of developing cancer again. there are moments where i think why did i have to have double bad luck. getting cancer in
itself was bad enough but then you into the water which is no help it only makes me angry so i just accepted a move on the tears when mom. and i planned my life one year at a time as for later let's see what happens i'm going to take things as they come and. i. yana is not listening to her fate either despite her serious genetic defect. and of course i'm scared and but there are different types of fear a fear that eats away at your mind and soul and a fear that protects you from making unwise decisions in life and i have that
natural fear not the one that torments you. ok when you look at the camera going on of course now let's see a bit of that power smile when it comes but donna has a lot of plans today she's having professional photos done for professional reasons she gets a pension but still works as an etiquette coach to the amazement of her doctors. who also software that i've just decided that we're going to do this again every couple of years and it's for me but because you never know. when it will end up in a wheelchair can we make the neurologist say yes i say no. to those per month right now and thank him as i don't want a self-fulfilling prophecy if i'm constantly thinking about possibly ending up in a wheelchair or dying and then it will happen. so instead i imagine being 70 and still walking around elegantly with my cane and covered in bling and everything's
going to turn out fine. but you know this is like. it's time to fix the foreign. climate greedy timber companies have taken a forest all around. forest management techniques prevent a catastrophe. modernizing a key part of the earth's environment. made in germany in minutes w. . the letter we were. when we were. in the pursuit of americans
at some point in our lives really. experience hardship. how to cover more than just one reality. where i come from we have a transatlantic way of looking at things that's because my father is from germany my mother is from the united states of america and so i realized fairly early that it makes sense or explained different realities. and now here at the heart of the european union in brussels we have 28 different ideologies and so i think people are really looking for any journalist they can trust for them to make sense of. why that is not all i work at the w. this
AN OFFICIAL from the City Health Office (CHO) has expressed the need to double the current budget of P500,000 for factor concentrates in response to the growing demand from Hemophilia patients in Davao City.
Among a small group of patients with severe hemophilia, researchers found that getting in more than 10,000 steps each day was linked to significant improvements in perceived physical health and quality of life (QOL).
Researchers found that in vitro clot formulation and fibrinolysis assays were able to determine the hemostatic effects of different replacement agents, as well as identify distinct pharmacodynamic responses across the different mechanisms of action.
Findings from this new study demonstrate the safety and efficacy of rIX-FP among a group of treatment-naive patients often characterized by young age and particular risk for severe bleeding.