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Meet the NIH Detectives Cracking Medicine's Toughest Cases

Meet the NIH Detectives Cracking Medicine's Toughest Cases
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United States , Far Side , Maria Acosta , David Adams , Graham Tucker , William Gahlis , Lynne Wolfe , Francis Rossignol , William Gahl , Don Hadley , Cynthia Tifft , Ellen Macnamara , Anna Savvidis , Stephen Groft , Camilo Toro , Special Olympics , University Of Wisconsin , National Tay Sachs , Office Of Rare Disease Research , Diseases Association , Clinical Center , National Human Genome Research Institute , Kyoto University , National Institute Of Child Health , Human Development , Diseases Program ,

Scientists Discover Genomic Variants for Rare Skin Disease

Treatment with a JAK inhibitor was found to alleviate symptoms in the small study of patients with disabling pansclerotic morphea, a rare, severe inflammatory skin disorder, first described in 1923. ....

San Diego , United States , Sarah Blackstone , Lori Broderick , Deutsche Forschungsgemeinschaft , Dan Kastner , Performance Computing Cluster Of The Center , American Academy Of Allergy , Clinical Center , Information Technology , University Of Pittsburgh , National Institute Of Arthritis , University Of South Dakota , Hydrocephalus Association , Scleroderma Research Foundation , Immunology Foundation , National Human Genome Research Institute , Novo Nordisk Foundation , University Of California , National Institute Of Allergy , National Institutes Of Health , Ludwig Institute For Cancer Research , California Institute For Regenerative Medicine , New England Journal , National Institutes , South Dakota ,

A new, more diverse human genome offers hope for rare genetic diseases

The first draft of the pangenome is based on the full genetic blueprints of 47 people from around the world ....

United States , University Of Washington , Walt Disney World , Kansas City , New Zealand General , New Zealand , Medstar Georgetown University Hospital , District Of Columbia , Papua New Guinea , Andrew Futreal , Seth Berger , Melissa Evans , Rose Gelineau , Kyle Moser , Eimear Kenny , Jean Baptiste Le Pichon , Teresa Cruz Steele , Carolyn Van Houten , Cornell Steele , Evan Eichler , Eric Green , Tom Curran , Stanley Crooke , Celia Steele , National Institutes Of Health Undiagnosed Diseases Program , National Institutes Of Health Intramural Sequencing Center ,

Baylor scientists link MRTFB gene variants with novel neurodevelopmental disorder

Researchers at Baylor College of Medicine have linked specific variants or mutations of the gene myocardin-related transcription factor B (MRTFB) with a novel neurodevelopmental disorder. ....

United States , Shinya Yamamoto , Ellenf Macnamara , Cynthia Tifft , Michael Wangler , Sharayu Jangam , Oguz Kanca , Jonathan Andrews , Christinev Malicdan , Biancae Russell , Hugoj Bellen , Los Angeles , Stanleyf Nelson , Emily Henderson , Diseases Program , Baylor College Of Medicine , University Of California , Diseases Network , National Institutes Of Health , Researchers At Baylor College Of Medicine , Dan Duncan Neurological Research Institute , Baylor College , Undiagnosed Diseases Network , Dan Duncan Neurological Research , Jung Wan Mok , Lee Kai Wang ,

Patient Advocacy Organizations Partner to Host Undiagnosed Day on April 29, 2023

The Undiagnosed Diseases Network Foundation (UDNF) joins forces with patient advocacy organizations around the globe to shine a light on undiagnosed diseases. ....

United States , Jamy Gray , Helene Cederroth , Wilhelm Foundation , Diseases Network International , Diseases Program , Diseases Network Foundation , National Institutes Of Health , National Organization For Rare Disorders , Undiagnosed Diseases Network Foundation , Undiagnosed Diseases Network International , Undiagnosed Day , Mayo Clinic , National Organization , Rare Disorders , Undiagnosed Diseases Program , National Institutes , Boston Children , Undiagnosed Diseases Day , Undiagnosed Day Org , Udnf Org ,