Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Video
Divisions
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.
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… answers to frequently asked questions about genetic disorders, the impact of genomics on your health, and the … of pharmacogenomics. … Health FAQs … FAQs about genetic disorders, the impact of genomics on your health, and the … Genetic Testing, Rare Disease … FAQs about genetic disorders, the impact of genomics on your health, and the …
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.
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 … diseases in both inpatient and outpatient settings with disorders spanning the entire life span. The third year of …
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.
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… Diseases Network , had unusual and unclassified disorders. “Our objective was to see if any of the 2,560 … mutations in the UBA1 gene. … VEXAS syndrome, inflammatory disorders, ubiquitylation, Undiagnosed Disease Program, David …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… to talk.” Scientists have described more than 7,000 rare disorders, the vast majority of which are thought to be … 30 million people in the United States; collectively, rare disorders are not so rare. Often, these disorders can cause very severe medical challenges. Fewer …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… broadened the traits and symptoms associated with known disorders, and offered insights into newly described disorders. The study was published in the American Journal of … can work, especially for identifying people with rare disorders who otherwise might not have been brought to …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… An electronic catalog of human genes and genetic disorders, developed by the National Center for Biotechnology … into a compound called trimethylamine N-oxide. … Genetic Disorders …