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News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… program at the University of Maryland, taking genetic screening to community-based diabetes clinics and elsewhere. …
News Release
NHGRI participated in a science communications contest called the Three-Minute Talk. NHGRI's Ryan Johnson came away with a first place win.
… National Institutes of Health recently participated in a high-energy science communications contest called the … phenotype which could potentially be utilized as a screening tool to catch bacteria at "high-risk" for becoming carbapenem resistant. Watch Dr. …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… EMRs of two large universities. The investigators showed a high rate of overweight and obese children (28 percent) was … The findings are important early steps toward developing screening methods for individuals who are at risk for severe …
The Genomics Landscape
In the November 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, celebrates the 30th anniversary of the NHGRI Intramural Research Program as well as announces the launch of a new digital history archive.
… and clinicians with stable funding for long-term and high-risk, high-reward projects. The NHGRI IRP has a fiscal year 2023 … Videocasts Genomic Medicine XV: Genomics and population screening — November 8-9 Jeffrey M. Trent Lectureship in …
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 …
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 …