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FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). … especially in organ systems that require a lot of energy. For example, pediatric mitochondrial disease often affects … and their families travel to the NIH Clinical Center for evaluation in the NIH MINI Study (clinicaltrials.gov, …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… NHGRI. "The results have been amazing and life changing for these children and their families," said Daniel Kastner, … to the researchers. NHGRI is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and … investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and …
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 …
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 … UDN also includes seven clinical sites at academic medical centers and at the NIH, as well as a coordinating center … be studied in zebrafish. The UDN is funded through the NIH Common Fund, which supports cross-cutting programs that are …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… in 2016. Dr. Adeyemo works on the genomics of complex disease, focusing on cardiometabolic disorders and complex … author of the papers describing: the first genome scan for obesity in an African population, the first genome-wide … time genetic risk variants have been reported for the common form of the nephrotic syndrome, which is the second …
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 …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … Environment, Diabetes, and Kidney Disease: A Multi-Omics for Health and Disease Study Site Disease Study Site** … and disease states.  one or two ‘Omics Production Centers that will utilize high-throughput molecular assays to …
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. … A major focus of the branch's research lies in … signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic …
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 … affects one in every 50,000 to 100,000 people, but is more common in people of Ashkenazi Jewish ancestry. There are …
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 … family members. Unfortunately, we receive more requests for participation than we can accept. Our study team will …