Search Results
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 … Research Pilot Study Craniosynostosis Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Cystinosis … Clinical and Laboratory Study of Methylmalonic Acidemia Muenke Syndrome Clinical Study of Muenke Syndrome …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… the NIH-funded biomedical data science ecosystem. …  Max Muenke, M.D., Chief of the Medical Genetics Branch and … area, a major form of craniosynostosis bears his name (Muenke syndrome). … Genomics Research Using microRNA to starve a …
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. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered … JE, Solomon BD, Richieri-Costa A, Ribeiro-Bicudo LA, Muenke M. Common genetic causes of holoprosencephaly are … R, Kleiner DE, Ward JM, Sulik KK, Lipinski RJ, Solomon BD, Muenke M. Human germline hedgehog pathway mutations …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… loci ( HLADQA1 and PLCG2 ) for steroid-sensitive nephrotic syndrome (PMID 25349203) were reported in his collaborative … reflux. Pediatr Nephrol, 31(2):247-53. 2016. [ PubMed ] Muenke M, Adeyemo A, Kruszka P. An electronic atlas of human … ] Koretzky M, Bonham VL, Berkman BE, Kruszka P, Adeyemo A, Muenke M, Hull SC. Towards a more representative morphology: …
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 … 2427F. Yonit Addissie: Behavioral Phenotype of Muenke Syndrome. (FGFR3-Related Craniosynostosis) (Clinical …
Staff
Dr. Ferreira is 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 … H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez A, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak …
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… et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In preparation). 5. Ariani Y , … Turkey (TUBITAK) ). 7. Ekure EN (PI), Uwineza A (Co -PI) , Muenke M et al. Genomic and Environmental Factors Influencing … Research Center, Egypt and NHGRI, NIH). 5. Ekure EN , Muenke M, Adeyemo A, Kruszka P. Ongoing research on Genetic …
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… NHGRI Dr. Dan Kastner, Scientific Director, NHGRI Dr. Max Muenke , Director, Medical Genetics & Ge nomic Medicine … pm Most Common Syndromes and International Atlas Dr. Max Muenke , Director, Medical Genetics & Genomic Medicine … 4.45 pm Clinical Aspects of Cytogenetic Disorders Dr. Max Muenke , Director, Medical Genetics & Genomic Medicine …
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: …