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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
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… Rachael Zisk … Funding will help expand the scale of the ClinGen resource. … The National Institutes of Health … from more than 40 countries, and its impact so far on genomics research and medicine.” To date, the ClinGen … from more than 40 countries, and its impact so far on genomics research and medicine. The consortium has also …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… disease is an inherited disorder caused by a change in the gene that produces hemoglobin, the red blood cells that carry … materials reflect the priorities and perspectives of both individuals living with sickle cell disease and the … gene therapy to understand the benefits and limitations of treatments so that they can make an informed decision on …
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… The Molecular Phenotypes of Null Alleles in Cells program will first look at … a program to better understand the function of every human gene and generate a catalog of the molecular and cellular … diseases with an identified genetic cause, as part of the Genomics Research to Elucidate the Genetics of Rare Diseases …
Educational Resources
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.
… Genetic Imprinting … In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene. … Genetic Imprinting, …
Educational Resources
Genomic variation refers to diversity in gene frequencies.
… Variation … Genomic variation refers to diversity in gene frequencies. … Genetic Variation, Genetic Testing, … effects. … Genomic variation refers to diversity in gene frequencies. … Educational Resources …
Policy Issues
NHGRI has created the IDE Greenhouse as an educational resource to help increase understanding of the regulation in the genomics context.
… (FDA) Investigational Device Exemption (IDE) regulation ( 21 CFR Part 812 ) oversees clinical research … tests to be in vitro diagnostic devices (IVDs), a type of medical device. As genomic technologies continue to enter … to help understand the regulation in the context of genomics. Genomic studies that were either successfully …
News Release
NHGRI is awarding Genomic Innovator Awards to nine institutions to support the research of 12 early career scientists in the field of genomics. The awards will total up to $27 million over five years.
… The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, is awarding Genomic … the research of 12 early career scientists in the field of genomics. The awards will total up to $27 million over five … Stanford, California Apply CRISPR tools to understand gene regulation related to common, complex diseases. Audrey …
News Release
NIH researchers have identified a gene that makes yeast resistant to a lethal toxin.
… Newly discovered gene helps some yeast endure toxins and can help scientists … yeast colony on sensitive yeast Pictured is a colony of yeast secreting a toxin that kills neighboring yeast … and how K28 may evolve in response. “The intricacies of genomics that mediate these within-species battles are …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… and Blood Institute launched the Centers for Mendelian Genomics (CMGs) program nearly four years ago, it was charged with the ambitious task of identifying the genomic underpinnings of as many Mendelian … inherited, and typically caused by a mutation in a single gene. So far, researchers have identified the genomic causes …
News Release
CRGGH researchers Amy Bentley and Charles Rotimi have just completed a large-scale, multi-ancestry genome-wide analysis of gene × smoking interactions on the concentration of serum lipids, including high-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), and triglycerides.
… a large-scale, multi-ancestry genome-wide analysis of gene × smoking interactions on the concentration of serum lipids, including high-density lipoprotein …