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Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that … a carrier. Eastern European (Ashkenazi) Jews at Greater Risk for Tay-Sachs Disease: While anyone can be a carrier of …
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 …
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 … diagnostic criteria for individuals who have a 50 percent risk of developing ADPKD include: At least two unilateral … before cysts develop, its usefulness is limited by two factors; it cannot predict the onset or ultimate severity of …
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 … risk communication; the influence of affective factors and ambiguity on health decisions; and the role of …
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 …
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 …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… and dynamic processes in general that may mediate genetic effects on traits?   Advances in sequencing … or theoretically, for scalable approaches to map genetic effects on higher-order compositions of cells: … environmental variation, including societal and structural factors, influencing diseases and traits? What does this mean …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store too … Low levels of white blood cells Low levels of clotting factors called platelets Slow clotting of blood High levels … disease are given lower doses of these drugs to reduce the risk of having a baby with birth defects. Lower doses also …
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 …