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Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… both play roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are … one generation to another. Genomics describes the study of all of a person's genes (the genome). … activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… A team from the National Institutes of Health has surmounted a major … obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from … alterations that cause Gaucher disease were an important genetic risk factor for developing the more common disorder …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… Genetic professionals work as members of health care teams providing information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … counseling. Genetics professionals include geneticists, genetic counselors and genetics nurses. …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… With assistance from a high tech robot, National Institutes of Health researchers have identified and tested a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's … (NHGRI), and her collaborators at the National Institute of Neurological Disorders and Stroke (NINDS) and the National …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… Finding accurate and reliable information on genetic and rare diseases among the millions of online sources is a difficult task for almost everyone. We … Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot …
Educational Resources
Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism.
… Genetic Engineering … Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism. … Genetic Engineering, Recombinant DNA, Genes, DNA Sequence … Genetic engineering (also called genetic modification) is a …
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 … that research findings and opportunities derived from genetic and genomic technologies may be translated into … improved diagnosis, treatments and prevention of human diseases. Using the excellent resources of NHGRI intramural …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… The Laboratory Genetics and Genomics Fellowship Training … to oversee and interpret cytogenetic and molecular genetic tests important in the diagnosis and management of human genetic disorders. … Hospital in Washington, DC. Fellows also gain clinical and genetic counseling exposure by seeing patients with genetic …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. … known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social news website and … so she needed a feeding tube. We were stumped, but put her genetic information on a website, along with a brief …