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Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… of a condition caused by numerical abnormalities is Down syndrome, which is marked by mental disability, learning … of monosomy, in which an individual lacks a chromosome, is Turner syndrome. In Turner syndrome, a female is born with only one sex …
Profile
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.
… group was the first to uncover the cause of Saul-Wilson syndrome and characterize the disorder. What are some key … Ferreira: We found that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical … heart. One that he knows particularly well is Saul-Wilson syndrome, a condition so rare that only four patients …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… disorders, including alkaptonuria, Chediak-Higashi syndrome (CHS), and Hermansky-Pudlak syndrome (HPS). For more than two decades she has been … C Zalewski, HJ Kim, B Solomon, BP Brooks, LH Gerber, ML Turner, DL Domingo, TC Hart, J Graf, JC Reynolds, A Gropman, …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… CRIA (cleavage-induced RIPK1-induced autoinflammatory syndrome), among others. She is presently working on more effective treatments for PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum, and … TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL , Turner ML, et al. An autoinflammatory disease with …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… first Natural History Study in Hutchinson-Gilford Progeria Syndrome (HGPS), developing outcome parameters which were … expanding the gynecologic phenotype in Hermansky-Pudlak syndrome, Methylmalonic Acidemia/Cobalamin … disorders/Propionic Acidemia, Chediak-Higashi syndrome and Smith-Lemli-Opitz syndrome. Dr. Merideth …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… peripheral blood of African Americans related to metabolic syndrome and abdominal obesity. (Health Services Research) … J. Adams: Novel SOX10 variant causing Waardenburg syndrome without cutaneous pigmentary changes. (Clinical … 508W. Paul S. Kruszka: Genetic Modifiers in Women with Turner Syndrome and Bicuspid Aortic Valve: Chromosomal …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… they named TRAPS (the TNF receptor-associated periodic syndrome), and proposed the now widely accepted concept of … and that the gene mutated in the dominantly-inherited syndrome of pyogenic arthritis, pyoderma gangrenosum, and … cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome. Current investigations focus on the use of genomic …
File
… 10 Neat Facts About the X Chromosome genome.gov Turner syndrome Tr i s o m y X syndrome Sex chromosomes 23 pairs of … by the presence of three X chromosomes instead of two. Turner syndrome occurs when women inherit only one copy of …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney … disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, … His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to …
Event
On November 5-9, 2024, 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.Â
… – 4:30 p.m. . Seyma Eroglu Ankylosing spine-brachydactyly syndrome: A possible novel skeletal dysplasia 2010T Kendall … for Genetic Disorders Platform talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib …