Search Results
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… (RA); systemic lupus erythematosus (SLE), Sjögren’s syndrome, major histocompatibility complex (MHC), biological …
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 …
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 …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… fail to develop properly. For example, people with Down syndrome have three copies of chromosome 21, instead of the … caused by imbalance in the number of sex chromosomes is Turner syndrome. Women with Turner have one X chromosome only. They are very short, …
Infographic
The X chromosome determines your sex, gives some females super color vision and lends its magic to a certain breed of cat.
… can lead to a number of diseases. For example, trisomy X syndrome  is caused by the presence of three X chromosomes instead of two. Turner syndrome  occurs when women inherit only one copy of the X …
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 … C Zalewski, HJ Kim, B Solomon, BP Brooks, LH Gerber, ML Turner, DL Domingo, TC Hart, J Graf, JC Reynolds, A Gropman, …
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 …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… Medical Center Pediatric Cancer Genetics Joyce Tannenbaum Turner, M.S.  Pediatric Genetics Laura Kofman, M.S. Kara … Sloan, Ph.D., M.S.  The Phenotype and Etiology of Proteus Syndrome  Julie C. Sapp, Sc.M.  Genetics and Clinical … Genetics  General Genetics Alyson Krokosky, M.S. Clesson Turner, M.D.  Prenatal Assessment Center MedStar Washington …