Search Results
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… performed on newborn babies to detect a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family … performed on newborn babies to detect a wide variety of disorders. … Educational Resources …
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 …
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
… Patients with genetic disorders and members of the public, both in the United … genome editing should be used to prevent or treat genetic disorders. … Patients, patient advocates, and families of patients with genetic disorders have diverse views on whether germline genome …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of … of cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. … person who has WAGR syndrome depend on the combination of disorders that are present. Wilms' tumor: About one half of …
Media Availability
New research provides a better understanding of some of the genetic and cellular changes in pathways and processes involved in Autism Spectrum Disorder.
… the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… to diagnose, manage and counsel patients with genetic disorders. … The Medical Genetics Residency Program exposes students to rare genetic disorders that might not be seen in a more typical medical …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… Progeria … Progeria is a rare disease characterized by accelerated aging. … Birth … Nuclear Membrane, Nucleus, Protein … Progeria is a rare disease characterized by accelerated aging. The classic … from heart disease during late childhood. … Progeria is a rare disease characterized by accelerated aging. … …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… study developed to improve and accelerate the diagnosis of rare and undiagnosed conditions. The grants will expand the … information to help understand the cause of extremely rare diseases," said Anastasia L. Wise, Ph.D., program … Sciences and National Institute of Neurological Disorders and Stroke. For more information about the UDN …
News Release
A new study examines why some people grow out of childhood attention deficit hyperactivity disorder (ADHD), while others continue to have symptoms as adults.