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Educational Resources
Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.
… Monosomy, Chromosome, Diploid, Genetic Diseasem, Turner Syndrome, Cri Du Chat Syndrome … monosomy, causes certain human diseases such as Turner syndrome and Cri du chat syndrome. …
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 that is characterized by … This syndrome consists of four cardinal symptoms: (1) multiple, … autoimmune disorder (a condition that occurs when the body's immune system attacks normal, healthy body tissue). …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, Developmental Disorder …
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 …
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 …
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 … world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has critically reevaluated the …
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.
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… her residency training in pediatrics at the Children's Hospital, Boston, and her postdoctoral fellowship training … in reproductive genetics and genomics. Dr. Bianchi's translational research focuses on two broad themes: … Sterling Lifetime Achievement Award recognized Dr. Bianchi’s achievements as an alumna of Stanford University School of …
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 …