Search Results
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… resulting in anemia.​ … Thalassemia, Inherited Blood Disorders, Hemoglobin, Anemia, Alpha Thalassemia, Beta … to produce hemoglobin, resulting in anemia. … Genetic Disorders …
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.
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 …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… chromosomal condition related to chromosome 21. … Genetic Disorders …
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.
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Blood Institute, the National Institute of Neurological Disorders and Stroke, the University of Florida, Northwestern …
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
… the genetic, epigenetic and metagenomic basis of human disorders. … TFGB researchers have developed a wide range of … into improved diagnoses and therapeutics for human disorders. … Overview … Branch Staff … Translational and … the genetic, epigenetic and metagenomic basis of human disorders. ​ … The Translational and Functional Genomics …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… a senior investigator in NHGRI's Medical Genomics and Metabolic Genetics Branch, NIH director and a corresponding …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… physicians develop research programs dedicated to the disorders they specialize in. The program trains fellows to … edge," said Dr. McGuire referring to a phenomenon known as metabolic decompensation - a biochemical instability that is … Infections, like the flu, are the most common cause of metabolic decompensation in patients with IEM. After medical …