Search Results
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden thrombophilia is an inherited disorder of blood clotting. … Factor V Leiden is the name of … DVT … Factor V Leiden thrombophilia is an inherited disorder of blood clotting. … Genetic Disorders …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… Disease, Genetic Disease, Genetic Condition, Genetic Disorder, Genetic Counseling, Genetic Testing, Rare Disease … …
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.
… performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children. … Genetic Testing, Genetic Disorder, Alleles, Inheritance, Family Health History … … performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
Jobs at NHGRI
An NIH-funded postdoctoral position is available in the Childhood Complex Disease Genomics Section (CCDGS), a new section in the Center for Precision Health Research at NHGRI, under Dr. Neil Hanchard.
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.
… grow out of childhood attention deficit hyperactivity disorder (ADHD), while others continue to have symptoms into … interaction." ADHD is a heritable and treatable brain disorder marked by inattention and/or … and the adult outcome of attention deficit hyperactivity disorder . PNAS , October 31, 2017. … Why Some People Outgrow …
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.
… of Health (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, … Research Institute have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, … … NIH researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… clinical findings based on their understanding of the disorder. The phenotype-first approach limits researchers from understanding the full spectrum of symptoms of the disorders and the associated … helped researchers find novel symptoms related to a disorder that clinicians previously missed because the …
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.
… in individuals with attention deficit hyperactivity disorder. … Researchers at the National Institutes of Health … the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National … reflect differences in how the brain functions, such as in autism.” Importantly, the researchers found that these …