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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.
… beginning early in childhood. ​ … Childhood stroke, rare disorders, blood vessel inflammation, CECR1 gene, deficiency …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
… to help these kids." The NIH defines ADHD as "a brain disorder marked by an ongoing pattern of inattention … A key aspect of Dr. Shaw's research involves studying the brain connectome. The connectome is made up of the … structural, and physical connections between different brain regions, allowing those regions to communicate and work …
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.
… Synapses are the spaces between nerve cells over which brain messages must travel. Mutations in synaptic genes and … on and off, and the formation of neural connections in the brain. Transcription. Instructions embedded in genes must be … can affect a wide range of important processes in the brain, from controlling gene activity to transmitting …
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 …
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 …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future … Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future …
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 … of the NIH provide extensive experience with common inherited / genetic diseases in both inpatient and outpatient …
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
Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left halves of the brain.
… fails to divide and form the right and left halves of the brain. … Holoprosencephaly, Developmental Disorder, Birth … fails to divide and form the right and left halves of the brain. The disorder produces a single-lobed brain structure and severe skull and facial abnormalities. …
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 …