Search Results
Professional Development Programs
The Genetics and Public Policy Fellowship is designed for individuals interested in the development and implementation of genetics-related health and research policies at a national level.
… Advances in research and their successful translation to improve health are deeply … guiding research agendas to informing the integration of genetics and genomics in clinical settings, sound … informed with participation from people with expertise in genetics and genomics. ASHG and NHGRI co-sponsor the Genetics …
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, … Projects performed at the biochemical, molecular, and cell biological levels involve the direct study of human …
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. … 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 …
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 human populations with … in collaboration with the Center for Research on Genomics and Global Health. …
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 … the child becomes blind, cognitively impaired, paralyzed and non-responsive. By the time a child with Tay-Sachs is …
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 findings may provide new clues to underlying genetic and biochemical influences in the development of stroke and cardiovascular disease, and may also help lead to new …
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. … It is present at birth in 1 in 400 to 1 in 1,000 babies, and it affects approximately 400,000 people in the United States. ADPKD occurs in individuals and families worldwide and in all races. Polycystic kidney …
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. …
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 other organisms and disease mechanisms. … of the branch is to demonstrate that research findings and opportunities derived from genetic and genomic …
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.
… A major goal of human genetics is to decompose the sources of trait variation into … forces that have shaped the number, frequency, and interactions of alleles influencing traits, and to … those traits. Although the foundation of quantitative genetics was laid over a century ago, there continue to be …