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Educational Resources
An exon is the portion of a gene that codes for amino acids.
… … An exon is a region of the genome that ends up within an mRNA molecule. Some exons are coding, in that they contain …
File
… Clinical_trial_process_for_sickle_cell_disease_gene_therapy.pdf …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… perturbations are demonstrated using metabolomics, mRNA profiling, proteomics, enzymology and in vivo metabolic …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… mitochondrial dysfunction and prove the efficacy of gene therapy as a treatment for both methylmalonic acidemia and … Investigator from the American Society of Gene and Cell Therapy in 2010 and election into the American Society of … fields of inborn errors of metabolism, genetics and gene therapy and serves on the medical advisory board of the …
Event
On November 1-5, 2023, 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.Â
… Sickle Cell Disease PB3447 Vence Bonham Democratizing Gene Therapy Education for Patient Communities. PB2369 David Adams … Syndrome: Exploring the therapeutic effect of gene therapy for HPS-1 pulmonary fibrosis PB2027 Zo Bly The …
News Release
Investigators with The Cancer Genome Atlas Research Network have identified new potential therapeutic targets for a major form of bladder cancer.
… therapies - second choices for treatments when the initial therapy does not work - and no approved targeted agents for … molecular targets identified may help us to personalize therapy based on the characteristics of each patient's … been treated with chemotherapy, radiation or any type of therapy. The scientists found recurrent mutations in 32 …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… defective gene, or correcting the defective protein. Gene Therapy Research Offers Promise of a Cure for Cystic Fibrosis Gene therapy offers great promise for life-saving treatment for CF … the cause of CF rather than just treating symptoms. Gene therapy for CF had its start in 1990, when scientists …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… suggest that the dog is once again on the cusp of a cancer therapy breakthrough," the researchers wrote in the Molecular … relevant system in which to further develop BRAF -targeted therapy strategies," they added. Canine tumors carrying the … tissue and underlying biology, including response to therapy," Dr. Parker said. Now, dogs and their owners stand …
File
… Your_mental_health_and_sickle_cell_disease_gene_therapy_participation.pdf …