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- 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
- Genomic Innovator Awards1
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… of the entire human genome, has greatly advanced genetics research. The improved quality of genetic data has …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by … Division of Rare Diseases Research Innovation) and the NIH Clinical Center. … A longstanding medical condition that … oncology, dermatology, dentistry, cardiology and genetics, among the dozens of participating senior attending …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way that … the study of all of a person's genes (the genome). … Genetics is a term that refers to the study of genes and …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center through awards just announced by the National … … The awards are part of a two-year initiative, called the Clinical Center Genomics Opportunity (CCGO), which is …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… How do I find a genetic professional? … Can knowing about genetics help treat disease? … How is genetic information … used to treat disease? … What are some concerns? … Genetics, Disease Prevention and Treatment FAQ … ​Genetic … medicine.​ ​ … Family Health History, Pharmacogenetics, Genetics, Treating A Genetic Disease, Diagnosing A Genetic …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… syndrome vary among individuals. The variability of the clinical symptoms and developmental delays may be related to the size of the deletion of the 5p arm. The clinical symptoms of cri du chat syndrome usually include a … the hospital at birth. A health care provider may note the clinical symptoms associated with the condition. The cat-like …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… to develop it in their lifetime. Previous studies into the genetics of diabetes risk have identified over 80 areas in … National Institutes of Health and head of the Molecular Genetics Section at the National Human Genome Research … primary federal agency conducting and supporting basic, clinical and translational medical research, and is …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
… Genetics … Genetics is the branch of biology concerned with the study of … and their interactions with environmental factors. … Genetics is the branch of biology concerned with the study of … and their interactions with environmental factors. … Genetics is the branch of biology concerned with the study of …