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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… Ganguly, Ph.D. … Test for rare genomic condition measures disease severity and success of liver transplantation for … also used the test to assess the severity of the disease in people and help determine if they would benefit … video tag. Breath test for methylmalonic acidemia measures disease severity and success of liver transplantation for …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort … Pathogenicity Classification P824 GREGoR: increasing rare disease diagnosis using emerging technologies and data …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… 8:00 p.m. Mendelian Phenotypes Human brains with Tay Sachs disease exhibit altered transcriptomes during fetal … of secondary genomic findings: Experiences of sickle cell disease research participants Board No. PB2224 Jameson Floyd … in two hereditary prostate cancer cohorts reveals rare risk-associated Board No. PB1123 Georgea Foley Convention …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… NHGRI was forming and there was an opening, I saw it as a risk, but a great opportunity. The institute brought … the impact of the variants on the person with the disease. If we think about public health, I don't think we … more profound impact on the overall health of the extended disease population in society. … Soo: What are you most …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… genomic variants that are associated with a heightened risk for breast cancer. Based on the American College of … BRCA1 and BRCA2 , both of which are linked to an increased risk of breast and ovarian cancer. All 59 genes are …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… insight into the biological mechanisms of human health and disease. The researchers used whole genome sequencing and … these incredible species! #DogGenome #Genome #Health #Disease #CitizenScience pic.twitter.com/RTeXBwNukW — National … are known to affect bone mineral density and increase the risk of bone-related conditions. Researchers have yet to …
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… genomics research. … In August 2020 the Centers for Disease Control and Prevention identified that Indigenous … Alaska Native and American Indian people were at a higher risk for COVID-19. Researchers are still assessing the full … face disproportionately higher rates of cardiovascular disease, diabetes, cancer and infectious diseases . Many in …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… to study how B cells are affected in mitochondrial disease by looking at human patients,” said Eliza … to study how B cells are affected in mitochondrial disease by looking at human patients. While mitochondrial …
Event
The Current Topics in Genome Analysis lecture series offers a mixture of local and outside speakers covering the major areas of genomics.
… Recognize the difference between clinical diagnosis of disease and identification of genetic predisposition to disease. Explain the potential ethical, legal, and social …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… differences in people’s blood pressure. Knowing a person's risk for developing hypertension could lead to tailored … of accumulated iron can contribute to cardiovascular disease. The researchers also confirmed the association … throughout the body, increasing a person’s risk for heart disease, kidney disease, stroke and other conditions. The …