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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
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 progressive destruction of … the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that … both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
… have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the …
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.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes … cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies … or her body. This is called mosaic WAGR syndrome. Genetic counseling is helpful for determining whether there may be an …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous … and in all races. Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous … found in about 15 percent of individuals who have ADPKD. A genetic test can detect mutations in the PKD1 and PKD2 genes, …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of … that research findings and opportunities derived from genetic and genomic technologies may be translated into … and clinical research, bringing the latest genomic and genetic technologies to the study of human disease. Our …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break … or no apparent trauma. … Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break … by a medical team including the child's own doctor, and genetic, orthopedic and rehabilitation medicine. Supportive …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… about how to identify and interpret the interplay of genetic and non-genetic factors on trait variation. These issues have … association studies (GWAS) reveal differences in apparent genetic effects across families and populations with …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis is a genetic neurological disorder that can affect the brain, … cord, nerves and skin. … Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, … A rare form of NF is schwannomatosis. However, the genetic cause of this form of NF has not been found. … …
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.
… Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in … will be adapted to treat other organs affected by CF. Genetic Research May Lead to New Drugs to Treat Cystic … Center and at PathoGenesis Corporation have completed a genetic map for the Pseudomonas aeruginosa bacterium. This …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.