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Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… clinical research. Trainees also gain broad newborn screening experience at referral centers serving the … System in Baltimore, MD, and the State of Maryland Newborn Screening Laboratory. … Three months of rotations will be at … genetics laboratory, two weeks at the Maryland Newborn Screening Laboratory, one month of clinical research at NIH …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… two new research centers, including a Model Organisms Screening Center and a Metabolomics Core, as part of the NIH … addition to two DNA sequencing centers, a Model Organisms Screening Center, a Metabolomics Core, a central … diseases at the NIH Clinical Center. Model Organisms Screening Center At the Model Organisms Screening Center, …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… Fellow, Medical Genetics Branch Development of a high-throughput framework to improve the replicability of … designer spheroids for disease modeling and drug screening Caroline Strong Postdoctoral Fellow, National …
Event
The Advances in Genomic Technology Development (AGTD) 2022 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) from July 12-14, 2022 at The Jackson Laboratory (Farmington, CT).
… in Human Cells: Systematic Development and Testing with High-Throughput Methods Lacramioara Bintu, Ph.D. Stanford University 10:10 a.m. High Throughput, Multiplexed Epigenomic Profiling of Primary …
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.
… association study of LDL response to statins using high-throughput electronic health records analysis 4113F Elizabeth … – 11:45 a.m. Session Title: Translating Genetics into Screening Programs Moderator, Teri Manolio Room 401 Colorado …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… They identified the small molecule compound through high-throughput screening, which tests hundreds of thousands of small …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… Jeannine Mjoseth … With assistance from a high tech robot, National Institutes of Health researchers … GBA1 break down cellular waste. In a process known as high-throughput drug screening, researchers at NCATS Chemical Genomics Center …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… at once is becoming increasingly possible with advances in high-throughput technologies and data science. The integration of … processed at the omics production center, which will use high-throughput molecular assays to generate genomic, …
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.
… be a physicist or a mathematician. During my last year of high school, I decided to pursue a career in medicine because … lives. In my home country of Paraguay, you go from high school directly to medical school. I have to say that I … different physical manifestations. With advances in high-throughput DNA sequencing over the last decade, more skeletal …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… NIH Intramural Sequencing Center (NISC) . NISC provides high-throughput DNA sequencing services to the NIH intramural … medicine Upcoming Webcasts October 10: Population Genomic Screening in Primary Care Pre-Application Webinar October …