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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.
… 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. … genes and genetic variants that underlie human Mendelian disorders is of significant biomedical relevance. The …
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 for these … , 69:1022-1032. 2001. [ PubMed ] Huizing M., Gahl W.A. Disorders of vesicles of lysosomal lineage: 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 relatively rare disorders seen at the NIH Clinical Center hospital. This work … overarching concept of autoinflammatory disease to denote disorders of the evolutionarily ancient innate branch of the …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication 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 …
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 …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Genetic Disorders …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… Childhood stroke, rare disorders, blood vessel inflammation, CECR1 gene, deficiency …