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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
Washington University in St. Louis awarded an honorary Doctor of Science to Eric D. Green, M.D., Ph.D., for his contributions to the field of genomics.
… in St. Louis awarded an honorary Doctor of Science degree to Eric D. Green, M.D., Ph.D. , in recognition of his contributions to the field of genomics and its application to … the generation and analyses of sequences from targeted genomic regions in evolutionarily diverse species, and …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over their … of a lifetime, and why these symptoms differ from person to person. … Researchers at the National Human Genome … Bonham's study, Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study …
Event
A series focusing on a specific topic of genomic research by pairing an early career researcher funded under NHGRI’s Genomic Innovator Award Program with an established researcher whose own contributions have paved the way for the specific research area.
… 2022, NHGRI will host a new seminar series based on its Genomic Innovator Award Program, which supports innovative … Program with a more senior researcher whose work relates to the research area, to provide additional context. Since … Award Program with an established researcher whose own contributions have paved the way for the specific research …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… Eric Green, M.D., Ph.D. … As Summer 2020 comes to an end, many of us continue to spend the bulk of our time … of the central challenges in biology is understanding how genomic variation affects genome function to influence … numerous genomic variants that may play a role in human disease. However, there is limited information about how any …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … with GD, this enzyme does not function correctly, leading to a buildup of that byproduct. The macrophages malfunction … non-neuronopathic (type 1). Type 1 GD: This is the most common presentation of GD in the United States and in the …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through FDA-approved therapies ( … all treatments. This is a long process and it is important to understand what happens at each step. Talk with your …
Profile
After 50 years of federal service, Dr. Graham reflects on her contributions to the scientific community and the future of the genomics workforce.
… Dr. Graham reflects on her contributions to the scientific community, her retirement and the future of … up or give in.” It would be impossible to list all of the contributions that Dr. Graham has made in over 50 years of …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… The Insights into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS) study … disease in adults by looking at many factors, including genomic, microbial, physical and social influences. … The …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease.
… involve scanning markers across the genomes of many people to find genetic variations associated with a particular … useful in finding genetic variations that contribute to common, complex diseases, such as asthma, cancer, diabetes, … research tools that make it possible to find the genetic contributions to common diseases. The tools include …
Educational Resources
Lyonization is commonly known as X-inactivation. In mammals, males receive one copy of the X chromosome while females receive two copies.
… X chromosome while females receive two copies. … X-linked Disease, X-inactivation, X Chromosome, Y Chromosome, … Lyonization (also called X-inactivation) refers to the normal phenomenon in which one of the two X …