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Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… and because I wanted to make a difference in people’s lives. In my home country of Paraguay, you go from high … a researcher came much later, when I was already in the U.S. finishing my training in medical genetics. After being … group was the first to uncover the cause of Saul-Wilson syndrome and characterize the disorder. What are some key …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… IDH1 mosaicism P237 Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … 2023, 5:40 - 6:00 p.m. Moderator: Neil A. Hanchard, M.B.B.S., D.Phil., NHGRI Presenter: Diana Bianchi, M.D., NHGRI The … will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
… Genomics in Medicine Series in response to the institute's 2011 vision for genomic research. It addresses two aspects …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Conceals Social Determinants: The Case of Down Syndrome and COVID-19 Sara M. Bergstresser, Columbia …
File
… Exploring the Microbiome and Its Connection to Metabolic Syndrome …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Albinism Clinical, Cellular, and Molecular … Healthy People and in People With Skin Conditions Gaucher's Disease Genetic Studies of Lysosomal Storage Disorders … Disorders Healthy Individuals PET Scanning in Parkinson's Disease Healthy Individuals Study of Autoimmune …
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
… Christopher Ours, M.D., M.H.S. … Dr. Ours is an Assistant Research Physician at the … University of Utah. He then joined Dr. Leslie Biesecker’s laboratory to study rare segmental overgrowth disorders. … of segmental overgrowth disorders which focus on Proteus syndrome, tumor predisposition, and molecularly undiagnosed …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… review medical records to determine if the participant’s medical history is consistent with an autoinflammatory syndrome, or if there are other studies that may be more … One Gene at a Time … Lab Team Brynja Matthiasardottir, M.S. Christina Kozycki, M.D., M.PH. Elaine Remmers, Ph.D. …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… side (ipsilateral hand). Sometimes referred to as "Poland syndrome," it is an uncommon condition present at birth … Additional Resources for Poland Anomaly Medscape: Poland Syndrome MedicineNet: Poland Syndrome Medline Plus: Poland Syndrome Genetics Home …