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News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… ClinGen panel also validates three genes believed to be associated with long QT syndrome … Geneticists and heart specialists around the world … glaucoma and familial hypercholesterolemia to name a few — periodic classification of a number of gene-disease pairs is …
Research Training
The NHGRI Social and Behavioral Research Branch invites recent graduates to pursue multidisciplinary training in genomics and health.
Educational Resources
Polydactyly is a condition in which a person has more than the normal number of fingers or toes.
… … Autosomal Dominant, Dominant, Birth Defect, Mutation, Syndrome … Polydactyly is a condition in which a person has …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… group first discovered the neural crest cell transcription factor SOX10 , which is associated with Waardenburg Syndrome IV and with human melanoma, and also identified the …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… to extend the lifespan of mice with the genetic variation associated with progeria, a rare genetic disease that causes … which is also known as Hutchinson-Gilford progeria syndrome, is caused by a mutation in the nuclear lamin A  … issues in childhood and adolescence that are normally associated with old age, including cardiovascular disease …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… commitment to developing prenatal treatments for Down syndrome. They hypothesize that giving safe and efficacious … sampling (CVS) performed in the United States, with an associated decrease in procedure-related miscarriages. … which suggests that there may be a clinically asymptomatic tumor that may or may not merit treatment. In 2019, in …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… … Crohn's Disease, Inflammatory Disorder, Irritable Bowel Syndrome, Abdominal Pain, Bowel Disorder … Crohn's disease is …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… established a multidisciplinary clinic for Prader-Willi syndrome. She then joined the faculty at the University of … cystic kidney disease (MCKD), an inherited disorder associated with gradual loss of kidney function. Dr. Hart and … autosomal dominant hypocalcified amelogenesis imperfecta associated with different FAM83H mutations. J Dent Res , …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… they must show at least two of the aforementioned symptoms associated with NF1. A physical examination by a doctor … treatment may include surgery or back braces. For symptoms associated with NF2, surgery may be a viable option, however … Home Reference: Neurofibromatosis Type 2 Children's Tumor Foundation (CTF) Genetic Testing Registry: …
News Release
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… on the psychosocial impact of genetic testing for Lynch Syndrome-associated cancer . The genes associated with Lynch syndrome had just been discovered. …