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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 … a carrier. Eastern European (Ashkenazi) Jews at Greater Risk for Tay-Sachs Disease: While anyone can be a carrier of … Medline Plus: Tay-Sachs Disease NINDS: Tay-Sachs Disease Information Page Genetics Home Reference: Tay-Sachs disease …
Policies and Guidance
Text, graphics, videos, illustrations and other information on NHGRI websites are in the public domain, unless indicated.
… Text, graphics, videos, illustrations and other information on National Human Genome Research Institute … indicated. You may freely use and distribute this information; however, we request acknowledgement, such as: … please be sure to cite the correct copyright owner. For information about these copyright owners, how they can be …
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).
… September 25, 2020 Webinar Information … Funding Opportunity 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 …
Educational Resources
Deoxyribonucleic acid (abbreviated DNA) is the molecule that carries genetic information for the development and functioning of an organism.
… acid (abbreviated DNA) is the molecule that carries genetic information for the development and functioning of an … acid (abbreviated DNA) is the molecule that carries genetic information for the development and functioning of an …
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 …
Policies and Guidance
NHGRI does not collect personally identifiable information about you on genome.gov unless you volunteer to provide it.
… does not disclose, give, sell, or transfer any personal information about visitors to its websites, unless required … protecting your privacy. We will not collect any personal information about you when you visit our website (other than the standard information automatically collected and stored in the Web …
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 …
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 … Organization for Rare Disorders Genetic and Rare Disease Information Center Finding Reliable Health Information Online …
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 … psychological functioning. In recent work, he has studied genetic testing decisions. Dr. Klein's work has appeared in …
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, … freckling and Lisch nodules pose minimal or no health risk to a person. Though neurofibromas are generally a … the mutation analysis does not provide enough conclusive information. With at linkage analysis, blood tests from …