HHS Prohibits Discrimination Against LGBTQ Patients medscape.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medscape.com Daily Mail and Mail on Sunday newspapers.
Image in public domain (via Wiki Commons).
Despite our differences, human beings share 99.9% of the genome. In other words, we all differ by a mere 0.1% of genes, which triggers the difference in the way we appear, grow, and develop.
Over 80% of rare diseases are caused by genetic mutations in that miniscule difference, and it’s estimated that such undiagnosed diseases affect about 8% of our population. Detecting such diseases is challenging, but researchers are working on new promising techniques.
Potential forms of diagnosis for rare and undiagnosed diseases include:
ADVERTISEMENT
Next Generation Sequencing (NGS), which refers to all large-scale DNA sequencing methods that allows for mapping the entire genome (whole genome sequencing);
A growing number of current and recovered Covid-19 patients in India are contracting a deadly and rare fungal infection, doctors revealed on Monday.
Mucormycosis, dubbed black fungus by medics, is usually most aggressive in patients whose immune systems are weakened by other infections. The cases of mucormycosis infection in Covid-19 patients post-recovery is nearly four to five times than those reported before the pandemic, Ahmedabad-based infectious diseases specialist Atul Patel, a member of the state s Covid-19 taskforce, told AFP.
Health workers wearing protective gear stand next to a Covid-19 coronavirus patient inside a banquet hall temporarily converted into a Covid care centre in Delhi on Monday
Gene-editing CRISPR tool is used INSIDE four blind patients bodies in a world-first attempt to correct their vision without transferring DNA to the lab
Carlene Knight and Michael Kalberer were both born with a rare genetic eye disorder called Leber congenital amaurosis (LCA)
Patients with LCA have genetic mutations that cause rods and cones, cells that detect light in the retina, to not function properly and that lead to vision loss
Knight, 54, from Portland, Oregon, and Kalberer, 43, from Long Island, New York, have volunteered for a gene-editing study using CRISPR technology
Traditionally, cells with mutations are removed from the body, the defective genes are edited out, and then the cells are inserted back in
Aplastic Anemia and MDS International Foundation and NORD Launch New Natural History Study of Paroxysmal Nocturnal Hemoglobinuria (PNH)
The worldwide registry will advance understanding of and spur innovation in treating PNH.
News provided by
Share this article
Share this article
BETHESDA, Md. and WASHINGTON, May 6, 2021 /PRNewswire/ The Aplastic Anemia and MDS International Foundation (AAMDSIF) and the National Organization for Rare Disorders (NORD®) today launched the largest-ever study to research Paroxysmal Nocturnal Hemoglobinuria (PNH), a rare bone marrow failure disease. PNH is characterized by the destruction of red blood cells, blood clots and impaired bone marrow function. While there are treatments available to improve the patients quality of life, PNH currently has no cure.