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Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
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 …
Research Funding
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 that underlie human Mendelian disorders is of significant biomedical relevance. The …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… genetic and genomic strategies to understand inherited disorders of inflammation, often stimulated by patients with … … Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics … … Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics …
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 … in molecular function that underlie various genetic metabolic disorders, with the hope of developing treatments … … Marjan Huizing, rare diseases, genetic disorders, metabolic disorders … Dr. Marjan Huizing is a staff scientist …
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, …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
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 …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… in the Organic Acid Research (OAR) Section of the Metabolic Medicine Branch in NHGRI. He earned a bachelor of … efficacy of gene therapy as a treatment for rare genetic disorders, such as methylmalonic acidemia (MMA), propionic … the Emmanuel Shapira Award from the Society for Inherited Metabolic Disorders in 2007, the Charles J. Epstein Trainee …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… beginning early in childhood. ​ … Childhood stroke, rare disorders, blood vessel inflammation, CECR1 gene, deficiency …