Search Results
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… resource used by many scientists to study human health and disease. … "ENCODE has created high-quality and easily … a network of researchers to develop and apply methods for mapping candidate functional elements in the genome, and … the scope of these efforts to include characterization centers, which will study the biological role that candidate …
Event
The NHGRI Center for Precision Health Research sponsors a monthly series of talks by intramural and special guest speakers on research relevant to the use of genomic data and large-scale electronic health record information to improve health.
… … Request an Accommodation … The NHGRI Center for Precision Health Research (CPHR) sponsors a monthly … details are updated as information becomes available. For more information, please contact Les Biesecker at email … and In-Person … MD … 50 South Drive … Room 1227 … Center for Precision Health Research Seminar Series … The NHGRI …
Staff
Shirley Freeman is an Intramural Program Assistant for NHGRI's Center for Research on Genomics and Global Health.
… Shirley Freeman is an Intramural Program Assistant for the Center for Research on Genomics and Global Health (CRGGH) housed under the Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch at the National Human Genome Research …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… of UDN are to: (1) improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed by a large community of … diagnosis is feasible to implement in academic medical centers around the United States. In 2018, new awards …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and …
Staff
Shawneequa Callier is a special volunteer at NHGRI's Center for Research on Genomics and Global Health.
… (GW) School of Medicine and Health Sciences (SMHS). For over a decade, she has also served as a Special Volunteer at the Center for Research on Genomics and Global Health at the National Human Genome …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… cancer-causing pathway in lung adenocarcinoma, the most common subtype of lung cancer. Knowledge of these genomic … may expand the number of possible therapeutic targets for this disease and potentially identify a greater number of … (1-800-422-6237). NHGRI is one of the 27 institutes and centers at the National Institutes of Health, an agency of …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … targets. Although excitement about the potential for gene therapy has grown tremendously since the discovery … genome are associated with disease risk. In the case of common diseases, such as diabetes, many genetic changes and …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a … that researchers have harnessed to explore two approaches for reducing the burden of the disease. The first approach … generation of therapies. Sickle cell disease is the most common inherited blood disorder in the United States, …
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.
… panel has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and … of the genes to be definitively associated with the most common form of the disease. The work was funded by the National Human Genome …