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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 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 …
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 …
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 …
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
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… of loops, like those of a shoelace. Just as you learned to tie your shoes by forming separate "bunny ear" loops of string, your DNA forms many of these loops to create "genetic neighborhoods" within each bunny ear loop. … Genome Research Institute (NHGRI). Gliomas are the most common type of brain tumor in adults, but these tumors are …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on … Program . "Our work on ECD builds on the institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common disorders." ECD is caused by the accumulation of …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… mice with the disease; the treated animals were then found to have less severe NPC1 symptoms. … The study, led by … 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
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… Institutes of Health has surmounted 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 …