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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… children with the disease. These participants completed a genetic literacy survey, watched an educational video about … genome editing, study participants demonstrated higher genetic literacy levels than estimated. The NHGRI study … a clinical trial. “Designing clinical trials for curative genetic therapies requires addressing the patient communities …
News Release
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
… Medicine honors NHGRI Scientific Director for advances in genetic epidemiology and efforts to enhance the diversity of … with a focus on the African Americans and Africans. As a genetic epidemiologist and genomics researcher, Dr. Rotimi … data from admixed groups and individuals of African ancestry has enhanced approaches to finding genomic variants …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… genome live on within many of us today. People with ancestry outside of Sub-Saharan Africa have 1% to 3% …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… family.  However, when one of Emily’s relatives underwent genetic testing for an unrelated condition, they were told … the signs and symptoms. In Canada where Emily lives, genetic testing to diagnose such a condition is not part of … consist of reference genomes from people of European ancestry . This current lack of ancestral diversity may …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… and Genetics, part of NIH, delivered the lecture on the genetic susceptibility to cancer. … The seventh annual … Trent's research has provided important insights into the genetic basis of cancer. He is the author of more than 350 … patients. Dr. Trent continues to lead studies of the genetic basis of various complex diseases in humans, as well …
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.
… to find new therapeutic approaches for some of these genetic disorders, with the hope that these preclinical … in the lives of these patients. … The catalog of genetic skeletal disorders has more than 770 entries, each …
Profile
An interview with Meru Sadhu, an Earl Stadtman Investigator and head of the systems biology and genome engineering section within the NHGRI Intramural Research Program, where he talks about his research and why yeast have a special place in his heart.
… get such complex systems starting with the simple rules of genetic inheritance really appealed to me, and my fascination …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… Dr. Pavan led a research program as an investigator in the Genetic Disease Research Branch that focused on understanding … cells that give pigmentation to hair and skin, and a rare genetic condition called Niemann-Pick disease type C. Dr. … associated with melanoma, a type of skin cancer, and the genetic condition Waardenburg syndrome type 4. He also …