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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems. … Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other … There are two types of myotonic dystrophy: Type 1 and Type 2. The two types are caused by alterations (mutations) in two …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be … recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be … that they never have any problems from the disorder. Type 2 and 3 do affect the nervous system. Type 2 causes serious …
Fact Sheet
Learn about the different types of hemoglobin.
… stem cells) are cells that can develop into any type of blood cell in your body, such as white blood cells, …
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
… Skin cancer is the most common type of cancer in the United States. An estimated 40 to 50 … cancer at least once. … Skin cancer is the most common type of cancer in the United States. An estimated 40 to 50 … up most of the epidermis. Melanoma is the most serious type of skin cancer. It occurs when melanocytes, the pigment …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… before the age of 1 year. There are two types of SMA, type IV and Finkel type, that occur in adulthood, usually after age 30. Symptoms … Muscular Atrophy, Tremors, Twitching, Type 1 SMA, Type 2 SMA, Type 3 SMA … Spinal muscular atrophy is a group of …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… to diseases such as cirrhosis of the liver, liver cancer, diabetes, heart disease and joint disease. The gene that … exhibit signs of the disease if there are triggers such as diabetes or alcoholism. … Hemochromatosis is one of the few … Hereditary Hemachromatosis HGARD: Hemachromatosis type 1 … What do we know about hereditary hemochromatosis? … …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… one half of individuals who have WAGR syndrome develop a type of kidney cancer called Wilms' tumor. In the early … with WAGR syndrome may have a higher risk for a type of cancer called gonadoblastoma, a cancer of the cells …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… medicine year in review: 2021 . Am J Hum Gene t. 2021 Dec 2;108(12):2210-2214. doi: 10.1016/j.ajhg.2021.11.006. … … Renowned for Potential Impact on Public Health Predicting Type 1 Diabetes among At-Risk Children 21st Century Technologies for …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… be mainly directed against two particular molecules: beta-2-glycoprotein I (ß2GPI, a normal protein found in the blood … it was thought that aPL antibodies were directed against a type of molecule known as anionoic phospholipids. However, in … a recurrent episode will have it in a similar blood vessel type. For example, individuals who have a stroke initially …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… transplantation. About one-half of people with the major type of PKD progress to kidney failure, also called end-stage … Dominant Polycystic Kidney Disease National Institute of Diabetes and Digestive and Kidney Diseases MedlinePlus …