Search Results
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 ] …
News Release
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… on the psychosocial impact of genetic testing for Lynch Syndrome-associated cancer . The genes associated with Lynch syndrome had just been discovered. "Jill was working on a … as they say, is history." People with identified Lynch syndrome mutations were waiting a long time before informing …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… of development and overgrowth such as Pallister-Hall syndrome, McKusick-Kaufman syndrome and Proteus syndrome. He initiated ClinSeq® , a large-scale medical …
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 …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… Hermansky-Pudlak syndrome (HPS), gray platelet syndrome, Hutchinson-Gilford Progeria syndrome, GNE myopathy, albinism, autosomal …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… for Disease Progression and Response to Treatment in Hutchinson-Gilford Progeria Syndrome Abhirami Thaivalappil Postbaccalaureate …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… group was the first to uncover the cause of Saul-Wilson syndrome and characterize the disorder. What are some key … Ferreira: We found that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical … heart. One that he knows particularly well is Saul-Wilson syndrome, a condition so rare that only four patients …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… DNA-editing method shows promise to treat mouse model of progeria In Broad Institute video, Dr. Collins describes new study using gene base editing to treat progeria What a year it was for science advances! Researchers … effects on the brain Trying to make sense of long COVID syndrome On NPR’s All Things Considered, Dr. Collins provides …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… a major form of craniosynostosis bears his name (Muenke syndrome). … Genomics Research Using microRNA to starve a … New NIH grant awards boost funding for research on Down Syndrome New NIH program provides comprehensive treatment for …