Search Results
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 …
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.
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 …
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 …
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.
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, …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… All Children’s Hospital St. Petersburg, FL National Disease Research Interchange Philadelphia, PA University of … the National Institute of Mental Health (NIMH), studies gene expression patterns in the first 18 years of life by … as well as a tissue bank to study the regulation of gene expression in multiple relatively healthy reference …
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.
… have a few different goals. We’re trying to discover new associations between genes and disorders. We are also … lead to clinical trials and decrease the burden of disease of our patients. … Soo: What are some difficulties in … and approaches currently being developed, such as gene therapy and the use of small molecules. By improving our …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… a genetic variation (allele) associated with a specific disease or trait. A carrier has inherited a normal and a variant allele for a disease- or trait-associated gene, one from each parent. Most typically, carrier screening … other parent is a carrier of a harmful variant in the same gene. … Carrier screening is a genetic test performed on …