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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
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… The Medical Genetics Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB investigators focus on human genetics, vertebrate embryology, inborn errors of metabolism, …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … A … in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important … their team reported their findings March 20, 2014 in PLoS Genetics. The investigators were supported by the National … of adult disability in this country, yet its underlying genetics have been difficult to understand. Numerous genetic …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… The Center for Research on Genomics and Global Health (CRGGH) uses genomic tools to understand … of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney diseases, in different … genomic regions, and whole exome sequence data. The Genetics of T2D and Related Complications in China This …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach … Disease NINDS: Tay-Sachs Disease Information Page Genetics Home Reference: Tay-Sachs disease GARD: Tay-Sachs …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure. … … Dominant Polycystic Kidney Disease National Institute of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation American Kidney Fund …
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.
… as making human insulin, producing fermented beverages and developing pesticide resistance in crop plants. … GMO …
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).
… … Funding Opportunity Announcements ( RFA-HG-20-048 and RFA-HG-20-049 ) Can a genetic counselor consultant … Can the proposed research be centered within a specialty genetics clinic? Yes, the FOAs are seeking applications that … that have a genetic mechanism. Research within specialty genetics clinics may be proposed as long as it is broadly …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of humans and … from underrepresented groups … Overview … Our Research … Genetics and Molecular Biology Branch … The Genetics and …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… OI also have teeth problems (dentinogenesis imperfecta), and hearing loss when they are adults. People who have OI may … COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: Osteogenesis imperfecta Medline … Imperfecta Medscape: Osteogenesis Imperfecta Medscape: Genetics of Osteogenesis Imperfecta … What is Osteogenesis …