Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… genes for type 2 diabetes, and the gene that causes Hutchinson-Gilford progeria syndrome, a rare condition that causes premature …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… therapeutics for the rare premature-aging disease, Hutchinson Gilford Progeria Syndrome (HGPS). Two of those treatment strategies …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring … … The NIH group first encountered a patient with the syndrome approximately 10 years ago. The patient, then 3 … in blood vessel walls result. The researchers call the new syndrome, deficiency of ADA2, or DADA2. The enzyme ADA2 is …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… natural history of numerous diseases, including Proteus syndrome, PIK3CA-related overgrowth syndrome, TARP syndrome, oculofaciocardiodental syndrome, Lenz …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… three genes believed to be associated with long QT syndrome … Geneticists and heart specialists around the world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart condition. However, … as having limited or disputed evidence for causing the syndrome. Their results were published in Circulation , the …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
​
… commitment to developing prenatal treatments for Down syndrome. They hypothesize that giving safe and efficacious … chromosomes, and fetuses with trisomies 21 or 18, Turner syndrome (45, X), Fragile X, twin to twin transfusion syndrome, and myelomeningocele. We have also explored the …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… factor SOX10 , which is associated with Waardenburg Syndrome IV and with human melanoma, and also identified the … disease and melanocyte deficiencies of Waardenburg (WS) syndrome. Subsequently, germline SOX10 mutations were … modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res , 9(3): 215-225. 1999. [ PubMed ] …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… Merideth helped conduct the first Natural History Study in Hutchinson-Gilford Progeria Syndrome (HGPS), developing outcome parameters which …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… DATA Scholars Program, DSI-Africa, ClinGen, Long QT Syndrome … In the March 2020 edition of The Genomics …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… (RA); systemic lupus erythematosus (SLE), Sjögren’s syndrome, major histocompatibility complex (MHC), biological …