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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 …
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 …
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. …
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.
… Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental disability. … is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, …
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 …
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 identify potential levers of intervention to better … projects, coordinated research efforts, and informational outreach activities. …
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 also have muscle weakness, loose joints (joint laxity) and skeletal malformations. OI occurs in approximately 1 in … after birth. OI occurs with equal frequency among males and females and among racial and ethnic groups. Life …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… disorder that can affect the brain, spinal cord, nerves and skin. … disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's … NF into two distinct types: neurofibromatosis type 1 (NF1) and NF2. NF1, formerly known as von Recklinghausen's NF, is …