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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 … only and is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… Autosomal Dominant Disorder … Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases. … Trait, Inherit, Genetic Diseases, Chromosomes, Mutation, Recessive, Dominant …
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
… Autosomal Recessive Disorder … Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. … Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in …
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.
… Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a … 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 …
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 … Sequencing … Related Content … NIH team discovers genetic disorder causing strokes and vascular inflammation in …
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 … increase the number of Mendelian disorders for which the genetic cause is known. To achieve this, the teams will … research community to tackle challenging diseases whose genetic causes were eluding identification by …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …
Archive
Genetic Finding Suggests Alternative Treatment Strategy For …