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News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… ADHD is as heritable as height," said Philip Shaw, Ph.D., a senior … , NHGRI researchers examined people with ADHD to map brain connections, called white matter tracts, tied to the … advancement. What's more, ADHD is a leading risk for mood disorders, substance abuse and even car accidents. With this …
Event
On May 1–2, 2018, the National Human Genome Research Institute (NHGRI) sponsored this NHGRI workshop in Silver Spring, Maryland.
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… what happens when two genetic neighborhoods merge in brain tumor cells. Researchers found that one gene came under … Institute (NHGRI). Gliomas are the most common type of brain tumor in adults, but these tumors are difficult to … Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic … List of Genetic Disorders … Genetic Disorders …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Genetic Disorders …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… decompression is performed to decrease pressure on the brain. Children who have achondroplasia need careful … Achondroplasia, Bone Disorders, FGFR3 Gene, Gene Mutation … 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.
… Genetic Disorders …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… Other serious sites of bleeding include the bowel, the brain and soft tissues. These types of bleeding can lead to … the hemophilia. Males are affected by X-linked recessive disorders much more frequently than females. A major … Genetic Disorders …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to … Genetic Disorders …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… bodies. Inborn errors of metabolism (IEM) are a group of disorders that causes a block in a metabolic pathway leading … some examples are listed below. IEM Examples Urea cycle disorders Ornithine transcarbamylase deficiency, … Tyrosinemia, phenylketonuria, homocysteinuria Carbohydrate disorders Galactosemia, fructosemia Mitochondrial disorders …