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Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… Howard Chang, Stanford University Judy Cho, Icahn School of Medicine at Mt. Sinai Workshop Rationale Moderator: Howard … Chang (Stanford University) 1:05 - 1:15 p.m. Overview of NHGRI’s Strategic Vision Eric Green, NHGRI 1:15 - 1:25 … the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are … (such as falls, motor vehicle accidents or poisoning), genomic factors play a role in nine of the ten leading causes …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … Autosome, Birth Defect, Gene, … is a hereditary disease seen most often among people of African ancestry. Caused by mutations in one of the genes …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… and Introduction Eric Green 8:40 - 9:00 a.m. Statement of Meeting Goals Elise Feingold Adam Felsenfeld Part I: … a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the … strategy to advance our ability to find and characterize genomic variants, the genomic elements in which they reside …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… Jeannine Mjoseth … National Institutes of Health (NIH) researchers have identified a treatment that … the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type … the gene variant that causes the disease using a genomic technique called whole exome sequencing. "Genome …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… Jeannine Mjoseth … The National Institutes of Health (NIH) has awarded 16 four-year grants to academic … UDN takes advantage of cutting edge technologies such as genomic sequencing, metabolomics and assessing patient … to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… Sheena Faherty, Ph.D. … The National Institutes of Health (NIH) plans to expand its Encyclopedia of DNA … resource used by many scientists to study human health and disease. … "ENCODE has created high-quality and easily … genome sequences and to understand the consequence of genomic variation," said Elise Feingold, Ph.D., a program …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… then a postdoctoral research fellow in the laboratory of genomics pioneer Maynard Olson at Washington University … describes the largest and most comprehensive catalog of genomic variants that affect gene expression produced to … for NIH grants that are not focused on Alzheimer’s disease Genomic innovator award Advancing genomic medicine ( …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… The Big Picture  Genomic variation reflects the differences in a person’s DNA … compared to other peoples’ DNA.  There are multiple types of variants in human genomes, ranging from small differences … subset of genomic variants contributes to human health and disease.  Researchers create reference human genome …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… New disease could provide insights into how the cell’s recycling … a healthy brain. … Researchers at the National Institutes of Health have discovered a new neurological condition … coordination and speech. They report their findings in npj Genomic Medicine . Scientists from NIH’s National Human …