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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 …
Research Funding
Applications demonstrating excellent grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research.
… Monitoring in Clinical Trials of Germline Gene Editing: Ethical, Legal, and Social Issues Bryan Cwik …
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 …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… phenotyping of ~100,000 coding variants across Mendelian disease genes HG011989 Gary Hon William Kraus Nikhil Munshi … Duke University High-throughput functional annotation of gene regulatory elements and variants critical to complex … resource of functional elements, TF footprints and gene regulatory interactions HG011986 Ansuman Satpathy …
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, …
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.