Search Results
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… and characterization of some cancers and to monitor cancer therapy. …
The Genomics Landscape
In the July 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes the inaugural class of the ASHG-NHGRI Genomics and Public Service Fellowship Program.
… for targeting genome editing, such as that used for gene therapy.  This research was funded in part by the NIH with a …
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 …
Educational Resources
Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism.
File
… Navigating_sickle_cell_disease_gene_therapy.pdf …
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 February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… who has a special clinic setup for difficult cases of drug therapy adverse events and consults for PGx. In our Oncology …
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 …