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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
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called DADA2 (deficiency of adenosine … decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type …
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 …
Staff
Dr. Klein is an Adjunct Investigator in NHGRI’s Center for Precision Health Research, where he collaborates on several projects involving genetic risk communication
… where he collaborates on several projects involving genetic risk communication. His main appointment is as associate … psychological functioning. In recent work, he has studied genetic testing decisions. Dr. Klein's work has appeared in …
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 … diagnostic criteria for individuals who have a 50 percent risk of developing ADPKD include: At least two unilateral …
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
… Announcements ( RFA-HG-20-048 and RFA-HG-20-049 ) Can a genetic counselor consultant fulfill the need to have a person with genetic counseling experience on the team? No, a person or persons with genetic counseling experience need(s) to be an integral part …
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, … freckling and Lisch nodules pose minimal or no health risk to a person. Though neurofibromas are generally a …
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
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 … a sample of blood or saliva - is to see if a couple is at risk for giving birth to a child with CF. Carrier testing is …
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 …