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Researchers identify genetic cause of a rare neurological disorder

In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children's Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia. ....

Deepa Rajan , Udai Pandey , Emily Henderson , Nature Communications , University Of Pittsburgh School Medicine , Pitt School Of Medicine , Pittsburgh School , Pitt School , Neurogenetics Clinic , எமிலி ஹென்டர்சன் , இயற்கை தகவல்தொடர்புகள் , பல்கலைக்கழகம் ஆஃப் பிட்ஸ்பர்க் பள்ளி மருந்து , குழி பள்ளி ஆஃப் மருந்து , பிட்ஸ்பர்க் பள்ளி , குழி பள்ளி ,

Sanofi organised Webinars to discuss rare/ genetic disorders

Sanofi organised Webinars to discuss rare/ genetic disorders
Karachi
May 6, 2021
Karachi: Sanofi Pakistan announced that a series of Webinars were held to discuss and debate the unmet needs of patients of rare/genetic disorders. Participants included Dr. Faisal Sultan (Special Assistant to PM on Health), Dr. Yasmin Rashid (Punjab Health Minister), Prof. Dr. Huma A. Cheema (Prof. of Pediatric Gastroenterology- Hepatology, Genetic & Metabolic Diseases), Atif Ejaz Qureshi (President, Lysosomal Storage Disorders Society) and Khaled Esmat (Medical Head, Asia & Africa Zone, Sanofi Genzyme).
Giving an overview of the burden of rare/ genetic disorder in Pakistan, specifically Lysosomal Storage Disorders (LSDs). In 2013, Prof Cheema said, “According to a conservative estimate, 50% children in Pakistan die of rare genetic disorders (after malnutrition & diarrhea) - yet there is no policy to safeguard the lives of children living with rare genetic diseases”. With the as ....

Atif Ejaz Qureshi , Sanofi Genzyme , Lysosomal Storage Disorders Society , Yasmin Rashid Punjab Health , Sanofi Pakistan , Faisal Sultan , Special Assistant , Yasmin Rashid , Punjab Health Minister , Metabolic Diseases , Khaled Esmat , Medical Head , Africa Zone , Lysosomal Storage Disorders , Prof Cheema , யாஸ்மின் ரஷித் பஞ்சாப் ஆரோக்கியம் , சனோஃபி பாக்கிஸ்தான் , ஃபேஸல் சுல்தான் , சிறப்பு உதவியாளர் , யாஸ்மின் ரஷித் , பஞ்சாப் ஆரோக்கியம் அமைச்சர் , வளர்சிதை மாற்ற நோய்கள் , மருத்துவ தலை ,

Q&A: How DNA detective work is helping crack complex diseases

Q&A: How DNA detective work is helping crack complex diseases
6 May, 2021 01:30 AM
6 minutes to read
Recent breakthroughs in genetics have transformed our understanding of many complex diseases. Image / 123RF
The human genetic code is mind-bogglingly complex - but it s a field of science
Professor Justin O Sullivan feels at home in. The deputy director of the University of Auckland s Liggins Institute, and a fellow of
the Office of the Prime Minister s Chief Science Advisor, will be giving his inaugural professorial lecture tomorrow afternoon about genetics, complex diseases and the microbiome. Science reporter
Jamie Morton chatted with him ahead of his talk. ....

United States , Jamie Morton , Michaelj Fox , Justin Osullivan , Silverstein Foundation For Parkinson , University Of Auckland Liggins Institute , Office Of The , Michaelj Fox Foundation For Parkinson , Professor Justino Sullivan , Liggins Institute , Prime Minister , Chief Science Advisor , Michaelj Fox Foundation , Silverstein Foundation , Q A , ஒன்றுபட்டது மாநிலங்களில் , ஜேமி மோர்டன் , ஜஸ்டின் ஓசுள்ளிவண் , சில்வர்ஸ்டீன் அடித்தளம் க்கு பார்கின்சன் , அலுவலகம் ஆஃப் தி , ப்ரொஃபெஸர் ஜஸ்டினோ சல்லிவன் , ப்ரைம் அமைச்சர் , சில்வர்ஸ்டீன் அடித்தளம் ,

Transtasman scientists sequence entire genome of myrtle rust

Transtasman scientists sequence entire genome of myrtle rust
4 May, 2021 04:00 AM
4 minutes to read
Myrtle rust spores on leaf of paperbark tree from Manly Vale, Sydney, NSW. Photo / Peri Tobias
Myrtle rust spores on leaf of paperbark tree from Manly Vale, Sydney, NSW. Photo / Peri Tobias
The Country
Scientists in Australia and New Zealand have built the entire genetic map of the fungus responsible for myrtle rust.
The result is the world s largest assembled fungal genome, taking up a billion letters of DNA genetic code.
If you printed the genome it would take up more than 400,000 A4 pages.
This discovery marked an important step towards unlocking genetic features of ....

Northern Territory , United States , New Zealand , New South Wales , Benjamin Schwessinger , Environmental Sciences , Australian National University , Plant Food Research , University Of Sydney , Australian Research Council Linkage Grant , School Of Life , Department Of Primary Industries , Sydney Institute Of Agriculture , Professor Robert Park , Sydney Institute , South America , Primary Industries , Western Australia , South Australia , Food Research , வடக்கு பிரதேசம் , ஒன்றுபட்டது மாநிலங்களில் , புதியது ஜீலாந்து , புதியது தெற்கு வேல்ஸ் , சுற்றுச்சூழல் அறிவியல் , ஆஸ்திரேலிய தேசிய பல்கலைக்கழகம் ,

Welcome To IANS Live - SCIENCE - Brazilian Covid variant more transmissible, can evade immunity

Photo Credit: IANS
IANSLive
London, April 29 (IANS) The Brazil variant (also known as P1) is likely to be more transmissible than previous strains of Coronavirus and able to evade immunity gained from infection with other strains, according to researchers.
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Update: 29-April-2021 ....

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