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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
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Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Italian, Greek, Middle Eastern, Southern Asian and African Ancestry. The two main types of thalassemia are called … deficiency of adult hemoglobin. … Blood tests and family genetic studies can show whether an individual has … both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Megan Grove @meganegrove Bill Gahl of @UDNconnect : w/ new genetic conditions, finding the 2nd case is rate limiting …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… frequently among individuals who are of Ashkenazi Jewish ancestry. Type 1 Gaucher disease is present 1 in 500 to 1 in 1000 people of Ashkenazi Jewish ancestry, and approximately 1 in 14 Ashkenazi Jews is a … called glucocerebroside cannot be adequately degraded. … Genetic Disorders …
Professional Development Programs
Meeting a JHU/NHGRI Genetic Counseling Training Program graduate will help you learn more about the program and may help when deciding whether to apply.
… Meeting a JHU/NIH Genetic Counseling Training Program graduate will help you … help when deciding whether to apply. … Coursework for the Genetic Counseling Training Program (GCTP) is offered on the … This week's topic is about how to measure the outcomes of genetic counseling and how to use these measures to evaluate …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… dystrophy is as common as Type 1 in people who have German ancestry. … People who have myotonic dystrophy have … discharge. The definitive test for myotonic dystrophy is a genetic test. For this test, a blood sample is taken to … CNBP gene NINDS Muscular Dystrophy Information Page Genetic Testing Registry: Myotonic Dystrophy Type 1 Genetic …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease, especially in families of Jewish ancestry. Children who have one parent with Crohn's disease … usually diagnosed in people between the ages of 20 - 30. … Genetic Disorders …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… study shows genotype-first approach uncovers new links to genetic conditions. … National Institutes of Health … to clinical attention,” says Caralynn Wilczewski, Ph.D., a genetic counselor at the National Human Genome Research … Core and first author of the paper. Typically, to treat genetic conditions, researchers first identify patients who …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… Medical, Lay Language, and Self-Reported Descriptions of Genetic Conditions 1069T Brian N Lee Understanding ableism in abstracts for genetic and genomic autism research 6044T Dayo Shittu Genetic … islet cell depletion exacerbated in individuals of African ancestry with Type 2 diabetes 5169F Tam Tran Efficient large …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… likely to develop the condition. Genetics: The Basics Our genetic material is stored in the center of every cell in our bodies (skin cells, hair cells, blood cells). This genetic material comes in individual units called genes. We … complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease. GWAS …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… Research studies are helping scientists to understand the genetic factors that have a role in inherited risk for … cancer, and research is ongoing regarding combinations of genetic changes that increase prostate cancer risk. More research is required to fully determine the genetic risk factors for prostate cancer. … Genetic testing …