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15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even … efforts sometimes shrink the path for establishing the genetic basis for a rare condition from decades (and … identification of at least 15 other children with the same disease, and the establishment of the  NGLY1 Foundation  to …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … A major focus of the branch's research lies in …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases … and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized … Avoid smoking tobacco and too much alcohol. Get specific genetic testing that can help with diagnosis and treatment. … …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … glucocerebroside cannot be adequately degraded. … Gaucher disease is an autosomal recessive inherited disorder of … normal part of the cell membrane. People who have Gaucher disease do not make enough glucocerbrosidase. This causes the … called glucocerebroside cannot be adequately degraded. … Genetic Disorders …
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 is a chronic inflammatory disorder of the bowel, … diagnosed in people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown cause), chronic … of bowel between inflamed areas). Complications of Crohn's disease include: blockage of the intestine; sores and ulcers … usually diagnosed in people between the ages of 20 - 30. … Genetic Disorders …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by … in post-menopausal, obese women of middle age. … Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome … corticosteroids, a disturbance of endocrine function, or a genetic cause since it seems to run in some families. Some … chiefly in post-menopausal, obese women of middle age. … Genetic Disorders …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's … damage that may cause death. … Wilson disease is a rare genetic condition that affects about one in 30,000 people. …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes … 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 …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … lost by nerve degeneration in individuals with HD. Genetic studies: Scientists are continuing to study inheritance patterns in families, including genetic studies of onset age, inheritance patterns and …