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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
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- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… Early in my career, I was involved in breast cancer risk modeling that led to Mary-Claire King discovering the … that, if you accounted for smoking and known environmental risk factors, there was still increased familial risk, which … of the risk factors for eye diseases, inflammatory bowel disease and cleft lip and palate.  In conversation with …
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
… signature that could help in determining a person’s risk for type 2 diabetes and could inform future research … opportunities for understanding RNA’s role in health and disease. You can read more about the report in a new feature … investigator and head of NHGRI’s Inflammatory Disease Section (as well as a former NHGRI scientific …
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 …
The Genomics Landscape
In the March 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new fact sheets produced by the institute's Communications and Public Liaison Branch.
… controlled access are: 1,000 Genomes, Centers for Common Disease Genomics, Centers for Mendelian Genomics, Whole … open-source, web-based platform for family-based monogenic disease analysis) into its suite of tools, which also … about current themes and issues in genomics. The polygenic risk score fact sheet describes how information about genomic …
The Genomics Landscape
In the August 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the NHGRI Extramural Research Program and how it takes a dynamic approach to it's research portfolio to help foster groundbreaking advances in genomics.
… multiple sub-components, including the Centers for Common Disease Genomics (CCDG) , the Centers for Mendelian Genomics … are often tailored to accommodate the type of high-risk research proposals that will yield the desired … workbook , which helps people assess their risk for heart disease, diabetes, breast cancer, and colorectal cancer using …
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 …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… into routine medical practice in a fashion that prevents disease and improves health. Tune into GenomeTV starting on … diseases; using family health history to assess risk; and assessing clinical outcomes and amassing evidence …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… how the Y chromosome contributes to human health and disease.  All the best,  … Noncoding variants alter GATA2 … 3 were associated with HCFP1 but could not pinpoint the disease-causing in the implicated genomic region. In this … when searching for the cause of a highly heritable disease.  This research was supported by the NHGRI …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… datasets so they can better understand human health and disease. … Genomic data science is a field of study that … uncover how differences in DNA affect human health and disease. Genomic data science emerged as a field in the 1990s … and link them to medically relevant information, such as a risk for disease or an indication for a specific medication …