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News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… skin rashes, diarrhea, joint pain and overall failure to grow or thrive. … Otulipenia is caused by the malfunction … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about … investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… of this application system sets the stage for the network to advance its core mission: to diagnose patients who suffer … been described or are unrecognized forms of more common diseases. … The new system streamlines the application … Anastasia Wise, Ph.D., program director, NHGRI Division of Genomic Medicine and co-coordinator for the NIH Common Fund's …
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). … disease often affects the brain, which may cause children to experience movement disorders, seizures and ongoing injury to their nerve cells. The COVID-19 pandemic poses a …
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, … San Francisco EXposomic Profiling in Airway disease to uNravel Determinants of disease in Asthma (EXPAND-Asthma) … will utilize high-throughput molecular assays to produce: genomic, epigenomic, transcriptomic, proteomic, and …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… that will fund studies of the function of genes thought to play roles in particular patients' conditions. Christine … variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and … be studied in zebrafish. The UDN is funded through the NIH Common Fund, which supports cross-cutting programs that are …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… affect the structure and function of gene products leading to human disease. … A major focus of the branch's research … contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse systems to … efforts include research aimed at understanding genetic contributions to a number of human diseases, particularly …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of … and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the … Of Genomics, Pharmacogenomics, Oncology Sequencing, Disease-based Findings … The NHGRI Genomic Medicine Working …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… atlas of human gene expression and catalog of trait loci to date. … Launched by the National Institutes of Health … ), GTEx will create a resource that researchers can use to study how inherited changes in genes lead to common diseases. It will establish a database and a tissue …
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.
… This study was initially launched in 1994 to identify the genetic cause of familial Mediterranean fever (FMF). Since then, it has expanded to include several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… two leading scientists have sketched out what doctors need to know in order to use the new technology effectively. … … implements technology to understand, diagnose and treat genomic and genetic diseases. The NHGRI Extramural Research … investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and …