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News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… M.D., senior author and staff scientist in NHGRI's Inflammatory Diseases Section. The Israeli researchers, whose … established the link between ADA2 deficiency and inflammatory blood vessel disease in the patients. Dan Yang, … that treatment may include specialized drugs that inhibit inflammatory proteins produced during the syndrome. Also, …
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 …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Genetic Disorders …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. …
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. … performed on newborn babies to detect a wide variety of disorders. …
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. … patient advocates, and families of patients with genetic disorders have diverse views on whether germline genome …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of the Medical Genetics Branch … As an associate research physician, she leads the Inflammatory Disease Section’s clinical team overseeing the … Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics …
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 … FAQs about genetic disorders, the impact of genomics on your health, and the … FAQs about genetic disorders, the impact of genomics on your health, and the …