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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… of OI is made on the basis of family history and/or clinical presentation. Frequent fractures, short stature, a … and 95 percent, respectively, of individuals with the clinical diagnosis of OI. Normal biochemical and molecular … COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: Osteogenesis imperfecta Medline …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis Network Medline Plus: Neurofibromatosis Genetics Home Reference: Neurofibromatosis Type 1 Genetics Home Reference: Neurofibromatosis Type 2 Children's …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Additional Resources for Cystic Fibrosis Information Genetics Home Reference Cystic Fibrosis Foundation Cystic … Fibrosis: Your Genes, Your Health What is Cystic Fibrosis? Genetics and Rare Diseases Information Center Finding …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… National Wilms' Tumor Study National Eye Institute (NEI) Genetics and Rare Diseases Information Center Finding …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… infection may be eligible to join. We will use the clinical information and samples of people who test positive … For more information on other COVID-19 clinical trials: NIAID COVID-19 Clinical Research COVID-19 … or SARS-CoV-2) is a serious public health problem, and genetics may play a role in how serious the illness becomes …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… are seriously ill may overestimate the benefits of early clinical trials while underestimating the risks. This makes … informed decisions about participating in genome-editing clinical trials. Gene-editing treatments, which appear to … can influence a person’s decision to participate in a clinical trial. “Designing clinical trials for curative …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… the field of genomics. … The American Society of Human Genetics (ASHG) , a professional organization of over 8,000 … to measure genomic variation that are currently of clinical value; the review also discusses approaches to … elements that limit use of genomic information in routine clinical practice. Teri is also profiled in one of the …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… for variants that could cause health problems. At the NIH Clinical Center, researchers took a blood sample from Bryant. … our genomes. In July 2013, the American College of Medical Genetics and Genomics issued a recommendation that people who have their genomes sequenced in a clinical setting should also have their genomic data screened …
Policy Issues
The GINA is an important U.S. civil rights law that protects individuals from discrimination based on their genetic information.
… Congress in the 1990s at a time when genetic testing and genetics research was taking off at breakneck speed. GINA … diagnose a disease, or they might refuse to participate in genetics research. H.R. 2748 would prohibit insurance … protections against employment discrimination based on genetics. More on that later! 1996 Sen. Olympia Snowe …