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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Day , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a … most challenging medical mysteries. Supported by the NIH Common Fund , UDN uses genome sequencing in the clinic, along … much larger and involves 7 clinical sites, two sequencing centers, a metabolomics core, a model organisms core, a …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… committed than ever to facilitating the use of genomics for addressing all threats to human health – infectious or … here , once available. …  Recently, the International Common Disease Alliance (ICDA) released their recommendations … of great interest to NHGRI and other NIH Institutes and Centers. …  NHGRI and the Eunice Kennedy Shriver National …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in … the disease has not been extensively described. As for the childhood form of Tay-Sachs, there is no cure. … results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. We all have two copies of …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the United States. … A baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents have …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… scientific leadership and shape direction of computational genomics in institute’s Intramural Research Program. … The … Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s … and inclusive research environment and provide mentorship for researchers within the Center. Since joining NHGRI in …
Staff
Dr. Meeks is a Research Fellow at the Center for Research on Genomics and Global Health.
… … Karlijn A.C. Meeks is a Research Fellow at the Center for Research on Genomics and Global Health (CRGGH). She received her Ph.D. in … Ph.D. … Dr. Meeks is a Research Fellow at the Center for Research on Genomics and Global Health. … Dr. Meeks is a …
Staff
Dr. Charles Rotimi is the scientific director of and NIH Distinguished Investigator in the Division of Intramural Research. He also serves as the director of the Center for Research on Genomics and Global Health (CRGGH).
… Benin in Nigeria before immigrating to the United States for further studies. He started his education in the United … into the role of culture, lifestyle and genomics in disease etiology, health disparities and variable drug … studies that explore the patterns and determinants of common complex diseases in human populations with particular …
Staff
​Lin Lei is a biochemist at NHGRI's Center for Research on Genomics and Global Health. ​
… Lin Lei is a Biochemist at the Center for Research on Genomics and Global Health (CRGGH), National Human Genome … research using Agilent and Affymetrix microarrays for both clients and the company’s in-house projects. …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through systemic … destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… resource used by many scientists to study human health and disease. … "ENCODE has created high-quality and easily … a network of researchers to develop and apply methods for mapping candidate functional elements in the genome, and … the scope of these efforts to include characterization centers, which will study the biological role that candidate …