Search Results
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome and Dercum-Vitaut syndrome - is a rare condition … autoimmune disorder (a condition that occurs when the body's immune system attacks normal, healthy body tissue). … dominant trait (this means that one out of a person's two copies of the gene, inherited from one parent, is …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… behaviors. … Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, Developmental Disorder … Autism is a condition …
News Release
SJS/TEN is a severe drug reactions that affect the skin, and one of the most severe of adverse reactions affecting any system in the body
… soon by a rare genetic condition known as Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN). SJS/TEN is the … and prevention strategies." At NHGRI, Dr. Manolio's team supports research to help medical practitioners bring … such as SJS/TEN, that might have saved Angela Anderson's life. "Doctors believe [Angela's SJS/TEN] was triggered by …
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.
… three genes believed to be associated with long QT syndrome … Geneticists and heart specialists around the world … heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has critically reevaluated the … is caused by mutations in genes that regulate the heart’s electrical activity. These mutations can cause the heart to …
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 …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… which is also known as Hutchinson-Gilford progeria syndrome, is caused by a mutation in the nuclear lamin A  … and their families cannot be overstated," said Francis S. Collins, M.D., Ph.D., a senior investigator in NHGRI's Medical Genomics and Metabolic Genetics Branch, NIH …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… Suzanne Hart received her B.S. in biology from California State University, Hayward (now … completed her postdoctoral training with Larry Tabak, D.D.S., Ph.D., at the University of Rochester. Her first faculty … established a multidisciplinary clinic for Prader-Willi syndrome. She then joined the faculty at the University of …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
​
… her residency training in pediatrics at the Children's Hospital, Boston, and her postdoctoral fellowship training … commitment to developing prenatal treatments for Down syndrome. They hypothesize that giving safe and efficacious … N, Madankumar R, Skotko BG, Schwartz A, Sharr C, Ralston SJ, Kitano R, Akiyama S, Yun HJ, Grant E, Bianchi DW. …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… Dr. William Pavan received his B.S. in animal science from the University of Massachusetts, … develop paradigms for therapeutic interventions. Dr. Pavan's 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
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… Laura Koehly, Ph.D., newly appointed chief of NHGRI's Social and Behavioral Research Branch. Credit: Ernesto Del … to have scientific outcomes that are stronger than what's possible in siloed labs. Our research focuses on bringing … on the psychosocial impact of genetic testing for Lynch Syndrome-associated cancer . The genes associated with Lynch …