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… Exploring the Microbiome and Its Connection to Metabolic Syndrome …
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.
… medical history is consistent with an autoinflammatory syndrome, or if there are other studies that may be more … Fever (FMF) TNF Receptor Associated Periodic Fever Syndrome (TRAPS) Deficiency of Adenosine Deaminase 2 (DADA2) … VEXAS (Vacuoles, E1 ligase, X-linked Autoinflammatory Syndrome) Haploinsufficiency of A20 (HA20) Sideroblastic …
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 …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… to two different populations of Hermansky-Pudlak Syndrome patients in Puerto Rico. NHGRI researchers are … for a variety of periodic fevers, for Gray Platelet Syndrome and four types of Hermansky-Pudlak Syndrome, for Proteus syndrome, Arterial Calcification due to …
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… elucidated the molecular defect underlying Saul-Wilson syndrome, a rare skeletal dysplasia, and the genetic basis of Catel-Manzke-like syndrome, another rare constitutional disorder of bone … X, Stabach P, Luke RL, Calderone L, MacKichan C, Wang A, Hutchinson HA, Nelson T, Tommassini SM, Busse B, von Kroge S, …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… organelles (LROs), including Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome, and Griscelli syndrome. A rare inherited disorder that has been identified …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… been identified in this APC gene. Individuals with this syndrome develop many polyps in their colon. People who … (hereditary nonpolyposis colon cancer) also called Lynch Syndrome Individuals with an HNPCC gene mutation have an … detected by the commonly used gene tests. The test for FAP syndrome involves examining DNA in blood cells called …
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 … Paul S. Kruszka: Genetic Modifiers in Women with Turner Syndrome and Bicuspid Aortic Valve: Chromosomal Microarray …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… pleuropulmonary blastoma (PPB) cancer predisposition syndrome. This disorder represents the first reported cancer predisposition syndrome due to altered microRNA biogenesis. Tumors … deletions of chromosome 9q: A novel microdeletion syndrome. American Journal of Medical Genetics , 128A (4): …
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 … Pyogenic arthritis, Pyoderma gangrenosum and Acne (PAPA) Syndrome. In: MacKay I, Rose N (eds) Encyclopedia of Medical …