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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 … traits and uncovered ways in which ancestry can influence genetic findings. Over the last several decades, Dr. Rotimi …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… inequities in genomic analyses. For example, predicting a genetic disease might not work as well for someone whose … a co-author of the main study. “For example, predicting a genetic disease might not work as well for someone whose …
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… in diagnosing patients, especially those with unresolved genetic conditions.” Until recently, that goal was hard to …
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 …
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 …
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.