Search Results
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… laboratory from Howard University and joined the Center for Research on Genomics and Global Health (CRGGH), National Human Genome … Bonney, and Charles Rotimi. Gene Copy Number Analysis For Family data Using Semiparametric Copula Model: … C. A novel approach for the simultaneous Analysis of common and rare variants in complex traits. Bioinform Biol …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… doctors and tests later, there was still no explanation for his symptoms, explained Dan Kastner, M.D., Ph.D., … of Intramural Research and head of the Inflammatory Disease Section at NHGRI.  From L to R: Dan Kastner, M.D., … Dr. Kastner. The team thought that one solution might be a common drug known as a tumor necrosis factor (TNF) inhibitor, …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … of genes that have large effects on an individual's risk for developing rare diseases. These same approaches might … genetic basis of a disease. "Will it be driven by common or rare variations?" he said. The paper stressed the …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… Jie Zhou is a Data manager and SAS programmer at the Center for Research on Genomics and Global Health (CRGGH). She is a Statistical … professional with over 12 years experienced using SAS for data management and analysis. She has applied her SAS … Pharmacogenomics, ancestry and clinical decision making for global populations. Pharmacogenomics J. 2014 …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… of Wisconsin in Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network (UDN). Each site will … two universities will become the DNA Sequencing Core sites for the UDN. The UDN also includes seven clinical sites at academic medical centers and at the NIH, as well as a coordinating center …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which … structure and function of gene products leading to human disease. … signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic … Genetic Disease Research Branch …
Event
Pre-application webinar on for the Molecular Phenotypes of Null Alleles in Cells (MorPhiC) data analysis validation centers funding opportunity announcement (FOA) on September 7, 2022.
… in Cells (MorPhiC) Phase I: Data Analysis and Validation Centers (U01 Clinical trials not allowed) RFA-HG-22-019 … Institute (NHGRI) will host a pre-application webinar for the MorPhiC Data Analysis Validation Centers funding opportunity announcement (FOA) . NHGRI staff …
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.
… several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … of patients have clinical features of autoinflammatory disease without a good explanation. Our goal is to discover … family members. Unfortunately, we receive more requests for participation than we can accept. Our study team will …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN). The UDP was organized by the National … Center initially in 2008. The UDN was funded by the NIH Common Fund from 2013-2022. … medical records to start a case review, 8 to 12 weeks for the UDP to evaluate an application, and 2 to 6 months to …
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.
… a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research Institute (NHGRI) and the National Center for Advancing Translational Sciences (NCATS), both parts of …