Search Results
Staff
Dr. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
… program director in 2019 and manages a portfolio of grants at the intersection of data science and genomics. … siloed or centralized data environments in genomics to cloud-based collaborative science and creating learning opportunities empowering a broad future workforce to navigate the massive data volumes produced in genomics …
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.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira discusses the challenges of skeletal genomics. … Soo: What was your path to becoming a clinician and a researcher? Ferreira: … to be a physicist or a mathematician. During my last year of high school, I decided to pursue a career in medicine …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… The CLINSEQ® Study seeks to learn about the role that your genes play in your health. … by getting a DNA sample from you, sequencing most or all of your genes, and comparing that to what we know about your personal and family health … Our goal is to enroll 1500 participants in the project. So far, we have …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Institute (NHGRI) are working with patients and families to better understand of how genes can cause or influence diseases and develop new … The MINI section aims to define the relationship between infection, immunity and … and with families with a history of inherited diseases, to learn more about the genetic components of common and rare …
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.
… 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics … Interpretation Recommendations for Cerebral Creatine Deficiency Syndromes Biochemical/Metabolic and Therapeutics …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… disorders and associated intracellular processes in order to gain insight into the changes in molecular function that … kinase, which in turn leads to sialic acid deficiency. Without adequate supplies of sialic acid, … HIBM. These mice die of unexpected glomerular disease due to hyposialylation of kidney glycoproteins, leading to …
Fact Sheet
Participation in genomics research is essential for improving the health of everyone.
… similar in most ways, our biological processes make each of us unique. Many aspects of those processes are encoded in … and T. The dissimilarities among human genomes, referred to as variants, come from differences in our DNA sequences.  … populations.  Genomes from distinct populations differ due to multiple factors, including who people decide to …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… and equivalent with an M.D.) from the Royal College of Surgeons in Ireland. After completing a combined residency … and Biochemical Genetics. In 2010, Dr. McGuire moved to the National Institutes of Health (NIH) to join the Physician Scientist Development Program to …
Investigación ClÃnica
El Programa de Enfermedades No Diagnosticadas de los NIH brinda respuestas a pacientes con afecciones misteriosas que durante mucho tiempo han eludido el diagnóstico.
… Winter 2022: Undiagnosed Diseases Program brings hope to patients with perplexing conditions Clinical Center News … The Undiagnosed Diseases Network 2014 July 21, 2014: One of a Kind: What would you do if your child has a condition new to science? The New Yorker July 2, 2014: Rare Diseases …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… Dr. Abdel Elkahloun obtained his B.Sc. from the University of Caen, and a M.Sc. and Ph.D. from the University of Rennes, … Elkahloun started applying large scale screening methods to identify genes associated with osteosarcomas and was part … Genetics, Inc., where he started a microarray department to produce the first commercially available microarrays …