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Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… the nervous system such as eye problems, seizures and brain damage. In Type 2 Gaucher disease, severe medical … more slowly progressive disease process and the extent of brain involvement is quite variable. They usually have … increased risk of developing Parkinson disease and related disorders. … The diagnosis of Gaucher disease is based on …
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 …
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. … …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… venous thrombosis in unusual sites in the body such as the brain or the liver. Having a DVT or PE during or right after … is an inherited disorder of blood clotting. … Genetic Disorders …
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 …
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. …
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.