Gene therapy

Gene therapy is the therapeutic delivery of nucleic acid in a patient’s cells as a drug to treat disease. [1] The first attempt at human-modifying DNA Was Performed in 1980 by Martin Cline , drank the first successful nuclear gene transfer in humans, approved by the National Institutes of Health , Was Performed in May 1989. [2] The first therapeutic use of gene transfer as well as the first live insertion of human DNA into the nuclear genome was Performed by French Anderson in a trial starting in September 1990. Continue Reading

Voretigene neparvovec

Voretigene neparvovec ( Luxturna ) is a novel gene therapy for the treatment of Leber’s congenital amaurosis . It was developed by Spark Therapeutics and Children’s Hospital of Philadelphia . [1] [2] It is the first in vivo gene therapy approved by the FDA. [3] Continue Reading


Tisagenlecleucel , marketed as Kymriah , is a treatment for B-cell acute lymphoblastic leukemia which uses the body’s own cells to fight cancer ( adoptive cell transfer ). Continue Reading

Synthetic rescue

Synthetic rescue (or synthetic recovery or synthetic viability when a lethal phenotype is rescued [1] ) refers to a genetic interaction in which a nonviable or sensitive to a specific drug due to the presence of a genetic mutation becomes viable when the original mutation is combined with a second mutation in a different gene. [2] The second mutation can be a loss-of-function mutation (equivalent to a knockout) or a gain-of-function mutation. [1] [3] Continue Reading


Strimvelis is the first ex-vivo stem cell gene therapy to treat patients with a very rare disease called ADA-SCID (Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency), a rare disorder caused by the absence of an essential protein called adenosine deaminase (ADA ), which is required for the production of lymphocytes . Children born with ADA-SCID do not develop a healthy immune system so we can not fight off everyday infections, which results in severe and life-threatening illness. In the child’s first year of life. ADA-SCID is estimated to occur in approximately 15 patients per year in Europe.

Photochemical internalization

Photochemical internalization (PCI) is a drug and gene therapy delivery method that is designed to improve the release of macromolecules and hydrophilic chemotherapeutic agents from endosomes and lysosomes to the cytosol of targeted cancer cells . PCI is based on the use of endosomal and lysosomal Localizing amphiphilic photosensitizers qui, after-activation by light , Induce photochemical reactions resulting and in destruction of endocytic membrane mediated by reactive oxygen species (ROS). Teaphotochemical destabilization of the membrane of the endocytic vesicle result in an endosomal escape of the entrapped drugs. [1] The technology was invented by Professor Kristian Berg at the Norwegian Radium Hospital. Continue Reading


Neovasculgen is a gene-therapy drug for treatment of peripheral artery disease , including critical limb ischemia ; it delivers the gene encoding for vascular endothelial growth factor(VEGF). [1] [2] Neovasculogen is a plasmid encoding the CMV promoter and the amino acid 165 form of VEGF. [3] [4] It was developed by the Human Stem Cells Institute in Russia and approved in Russia in 2011. Continue Reading

Mitochondrial replacement therapy

Mitochondrial replacement ( MRT , sometimes called mitochondrial donation ) is a special form of in vitro fertilization in which the future baby’s mitochondrial DNA comes from a third party. This technique is used when mothers carry genes for mitochondrial diseases . The two most common techniques in mitochondrial donation are pronuclear transfer and maternal spindle transfer . Continue Reading

Katherine A. High

Katherine A. High is an American doctor who is an Emeritus Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania . She is currently the President and Chief Scientific Officer of Spark Therapeutics . High earned at AB in chemistry at the Harvard College in 1972 and a MD in 1978 at the University of North Carolina School of Medicine . She did her training in hematology with Edward J. Benz, Jr. at Yale University . [1] Continue Reading

Brian Hanley (microbiologist)

Brian Hanley (1957-) is an American microbiologist and founder of Butterfly Sciences. He is known to use an experimental gene therapy to try to improve health, and is the first subject in the study [1] [2] . Continue Reading