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News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… Branch, who supervised the study. Postmortem studies are rare because of the limited donation of brain tissue but are …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… for improving the treatment, prognosis, and prevention of rare and common diseases. The study of genomic variation and … into the clinical care arena. We study an array of disorders - rare as well as common, simple as well as complex - selected …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… cellular processes like autophagy,” said Malicdan. A rare disease that involves changes in one gene can help tease … of autophagy are involved in common neurological disorders, such as Alzheimer’s disease. Knowledge of this rare neurological disorder could lead to new avenues of …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - … the United Kingdom. The just-discovered otulipenia is a rare and sometimes lethal inflammatory disease that causes … in this protein has not been previously linked to clinical disorders of the human immune system," said Ivona …
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.
… with one of about 7,000 Mendelian diseases, which are disorders generally thought to be caused by mutations in a … goal is to significantly increase the number of Mendelian disorders for which the genetic cause is known. To achieve … funds new effort to discover genetic causes of single-gene disorders … NIH will award nearly $80 million to support the …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… for demystifying undiagnosed illnesses - particularly rare childhood diseases - is moving from research … disease, mental disability, other neuropathies, metabolic disorders, epilepsy, cardiomyopathy, cancer and amyotrophic … for whom the technology is most promising are those with rare disorders that seem to be the result of variants in a …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Network Facts About Down Syndrome Genetics and Rare Diseases Information Center Finding Reliable Health … chromosomal condition related to chromosome 21. … Genetic Disorders …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Basic research … is being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Genome … being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Policy Issues …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… advancement. What's more, ADHD is a leading risk for mood disorders, substance abuse and even car accidents. With this …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.