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Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
… the NHGRI website. Development of ACT sheets for select high risk PRS diseases (Breast Cancer, Heart Disease, … focused largely on rare genetic variants associated with high risk. However, common variants contribute significantly … promise of PRS of improving public health through improved screening, prevention and early detection, providers must be …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… survey group to conduct a random-digit telephone screening survey targeting study-eligible AA that will be … and faith-based institutions in the area. Given the high burden of CVD among AA, this approach will yield a sample with normal individuals as well as a high proportion of AA with CVD risk factors such as obesity …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
News Release
Knowing your family health history can aid in detecting unique disease risks and lead to better prevention and treatment.
… care, especially for those who do not know their FHH, by screening for disease at an earlier age and more frequently. …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… receptor) mutations thought they just had garden variety high cholesterol, when in fact they had familial … Dr. Biesecker. This led to more aggressive cholesterol screening in other family members, including children as …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… of genomics partners that aims to provide accessible high-quality genome sequences that represent the diversity of … — October 30 Genomic Medicine XV: Genomics and population screening Genomics Videos Genomics-enabled Learning Health …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… of DADA2 has treatment implications. As an alternative to high doses of steroids, which produce profound side effects, …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… Metabolism David S. Rosenblatt, M.D. 10:30 - 10:45 a.m. High-Dose B12 Therapy for cblC Deficiency Irini Manoli, M.D., … Martina Huemer, M.D. 1:30 - 2:00 p.m. Newborn Screening for HCU Marzia Pasquali, Ph.D. 2:00 - 2:30 p.m. …
News Release
On June 26, 2000, nearly 10 years into the 13-year project, President Bill Clinton announced an important milestone for the Human Genome Project at a major White House ceremony.
… Ph.D., a Celera Genomics scientist at the time. "The high praise and expectations for the positive impact of the human genome on medicine established that day set a high bar for the field."  Perhaps the most vivid memory of …