Search Results
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.
​
… 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 , …
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. …
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: …
Educational Resources
The Y chromosome is one of the two sex chromosomes that are involved in sex determination.
… Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait … The Y chromosome is one of the two sex …
Educational Resources
X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.
… Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait … X-linked, as related to genetics, refers to …