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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.
… Many human diseases have a genetic component. Some of these conditions are under … Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for … in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… with ADHD may also have learning disabilities, behavioral disorders or disorders of mood such as depression or anxiety. … with ADHD. Research has shown that ADHD can have a genetic basis, which means that it is likely that a person … ADHD, Attention Span, Autism, Neurological Disorder, Genetic Disorder, Genetic Condition, Gene Mutation … …
Archive
… NIH researchers identify genetic cause of anemia disorder … Archive …
Archive
Genetic Analysis Tools Help Define Nature and Nurture in Complex Disorders … Archive …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… methods and approaches that help researchers identify the genetic causes of single-gene diseases. Over 400 million … with one of about 7,000 Mendelian diseases, which are disorders generally thought to be caused by mutations in a … increase the number of Mendelian disorders for which the genetic cause is known. To achieve this, the teams will …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… in the family, the NIH group did not at first suspect a genetic cause, and treated the patient with immunosuppressive … by her sixth birthday-they began to suspect a common genetic cause and embarked on a medical odyssey that has led … beginning early in childhood. ​ … Childhood stroke, rare disorders, blood vessel inflammation, CECR1 gene, deficiency …
Archive
Genetic Finding Suggests Alternative Treatment Strategy For Common, Complex Skin Disorders and Asthma … Archive …
Archive
… Scientists Discover Genetic Defect Responsible For Devastating Brain Disorder …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB … embryology, inborn errors of metabolism, and neurogenetic disorders. … Projects performed at the biochemical, … new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities … Women often request noninvasive screening tests to detect genetic conditions. These tests, however, typically focus …