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The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… to discover as many genes underlying human Mendelian disorders as possible. In doing so, the CMGs will define the … to find the variants and genes underlying Mendelian disorders. … The discovery of the genes and genetic variants … to individual investigators and coordination with other rare disease programs worldwide. The CMG are co-funded by the …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… the double lobes of the cerebral hemispheres. … Genetic Disorders …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… Series is designed to facilitate clinical research in the rare disease space with a focus on regulatory medicine and clinical trials in Mendelian disorders. The series will follow one of two formats: (1) a … Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… problems, and repetitive behaviors. … Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, …
News Release
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… … One of the most common childhood neuropsychiatric disorders, ADHD is highly heritable - meaning that genes play … Deficit Hyperactivity Disorder, ADHD, inherited brain disorders, Phillip Shaw Ph.D., Social and Behavioral Research …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… increased risk of developing Parkinson disease and related disorders. … The diagnosis of Gaucher disease is based on … glucocerebroside cannot be adequately degraded. … Genetic Disorders …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic … of a disease or condition. Many genetic diseases are so rare that only a geneticist can provide the most complete and …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to … (HPS), Chediak-Higashi syndrome, and Griscelli syndrome. A rare inherited disorder that has been identified in about 400 …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.