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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 … the U.S. Food and Drug Administration (FDA) approved two gene therapies to treat sickle cell disease. More than 50 … materials reflect the priorities and perspectives of both individuals living with sickle cell disease and the …
Educational Resources
Genomic variation refers to diversity in gene frequencies.
… Genomic variation refers to diversity in gene frequencies. … Genomic variation refers to diversity in gene frequencies. …
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.
… Funding will help expand the scale of the ClinGen resource. … The National Institutes of Health (NIH) will renew three awards totaling $73.2 … 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 …
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 … The National Institutes of Health is launching a program to better understand the … 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.
… In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene. … DNA Sequence, Genes, Family Health History, Genealogy, Gene Expression … Genomic imprinting is the process by which only one copy of a gene in an individual (either from their mother or their …
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 … yeast colony on sensitive yeast Pictured is a colony of yeast secreting a toxin that kills neighboring yeast …
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.
… As Summer 2020 comes to an end, many of us continue to spend the bulk of our time working from home. If you are seeking some virtual connections to genomics, I would like to offer some “remote learning” … Director) and I answered questions about bioethics and genomics research on Twitter as part of #AskDrGenome . …
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
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 conditions as possible. … of challenges ahead in identifying and understanding the genomics of Mendelian disease. "The only way that the centers …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… available to scientists and researchers two years ahead of the original Human Genome Project schedule and at a cost … in the human genome is considered by many to be one of the most ambitious scientific undertakings of all time, … Project covers about 99 percent of the human genome's gene-containing regions, and it has been sequenced to an …