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The Genomics Landscape
In the June 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. details the upcoming appointment of acting NHGRI Deputy Director, Vence Bonham Jr., J.D. and what it means for the institute.
… such projects, including positional cloning of a fusion gene in leukemia, the identification of the familial Mediterranean fever gene MEFV, and our current natural history study on patients with a rare genetic disease, familial platelet disorder. Our goals – …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2019.
… Supports Call for Moratorium on Clinical Uses of Germline Gene Editing 13 Genomes In the News Coast Redwood Walnut … Program Website GSP Consortium Website Centers for Common Disease Genomics (CCDG) Website Centers for Mendelian … Services Gasperini - A Genome-Wide Framework for Mapping Gene Regulation via Cellular Genetic Screens ENCODE …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… counseling services. … The accelerated discovery of disease and susceptibility genes made possible by the … of emerging needs, ranging from clients seeking disease susceptibility testing to those wanting to know if a …
Lesson Plans
The microbiome lesson plans were inspired by lectures and resources on the microbiome offered at the National Human Genome Research Institute’s (NHGRI) Short Course in Genomics.
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… myopathy type 2 (IBM2) or Nonaka myopathy. Symptoms of the disease usually appear between 20 and 40 years of age and … of daily living. GNE Myopathy results from variants in a gene called GNE , which is responsible for a step in the … in muscle biopsy tissue. Identification of GNE gene disease-causing variants by DNA sequencing can confirm …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… interview patients and make recommendations. Centers for Disease Control and Prevention (CDC) Family history case … of genetic and environmental factors influence health and disease across the lifespan. Courses in which this content …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… “search the genome” approach to reveal how mutations in a gene called UBA1 are associated with inflammatory diseases … syndrome (VEXAS), which is caused by mutations in the UBA1 gene. VEXAS causes symptoms that included blood clots in … in the U.S. live with some form of a chronic inflammatory disease. Many of these diseases have overlapping symptoms, …
The Genomics Landscape
In the August 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes Marcus G. Hodges as the new Intramural Training Office Director.
… architecture of complex human traits Center for Inherited Disease Research (CIDR) high-throughput sequencing and …
Event
NHGRI hosts a virtual Q&A with science journalist Angela Saini, author of “Superior: The Return of Race Science” on Thursday, July 23, 2020.