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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… developmental disorder. According to the Centers for Disease Control Prevention in 2007, autism spectrum disorders … are preliminary findings and require further study. The risk that a brother or sister of an individual who has … Autism Speaks Autism Research Institute Genetic and Rare Disease Information Center … What is autism? … What are the …
News Release
As you celebrate Thanksgiving with your family, remember that this special day is also National Family Health History Day.
… is important to your health . It can help you detect disease risks that are unique to your family and take steps … providers, the hospital, your doctor's office or a cancer risk clinic. Watch a video from NHGRI Director Eric Green, …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… a mutation from one of their parents that causes the disease. In those families, the chance of developing colon … than sporadic (non-inherited) cases of colon cancer. The risk of inheriting these mutated genes from an affected … found in all members of the family who had developed the disease. For this reason, the role of PMS1 in HNPCC is …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… it builds up in the wall of the arteries and increases the risk of heart disease. Cholesterol is carried in the blood stream in small … in the blood increase the risk for heart attacks and heart disease. The cholesterol carried by HDL is sometimes called …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… who have Marfan syndrome also have an increased risk for retinal detachment, glaucoma and early cataract … enlargement of the proximal pulmonary artery, and a high risk for aortic tear and rupture (aortic dissection). … The … born with Marfan syndrome is less than 50 percent. But the risk is still greater than the general population risk of 1 …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… type I - at the time, and still to date, a rare genetic disease with no known cure. Today, Dr. McGuire is one of the world's leading experts in the disease, and, armed with training from the National Human …
Event
The Genomics and Health Disparities Lecture Series was formed to enhance opportunities for dialogue about how innovations in genomics research and technology can impact health disparities. Topics will range from basic science to translational research.
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… isovaleric acidemia, glutaric acidemia, maple syrup urine disease Fatty acid oxidation defects Medium chain acyl-CoA … on the inheritance pattern of the IEM, whether the at-risk family member is male or female, and the rest of the … in other relatives). In some cases, the age of the at-risk family member and whether or not they have shown any …
News Release
My Family Health Portrait is a downloadable tool to complete a family health history on a personal computer.
… our own health and can help us detect and manage personal disease risks, or find the right diagnosis and treatments when we have a certain disease. In addition to clinical practice use, family health … screens for and serves populations at higher than average risk for disease, such as cancer and heart disease. CDC, …
News Release
Nurses and other health professionals looking to integrate genomics into patient care now have access to an online toolkit with more than 100 resources.