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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
- Encyclopedia of DNA Elements (ENCODE) Project1
- 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 …
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 …
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).
… disease called DADA2 (deficiency of adenosine deaminase type 2). … The disease results when a malfunctioning gene hampers … genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2). … NIH researchers have identified a treatment …
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.
… Heart, Lung and Blood Institute, National Institute of Diabetes and Digestive and Kidney Diseases and the National …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… health and require further testing. The researchers used type 2 diabetes mellitus (T2D) as the disease model for their study. …
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? … …
MINC
Use the resources to help you design an education program or policy for your setting.
… program or policy for your setting.  Resource Title Type Cost Action Plan Instruction Presentation Slides Free … Flyer Free Texas Health Presbyterian: Family History & Diabetes Flyer Free Texas Health Presbyterian: Genetic …
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 …