Research is currently underway in Duchenne muscular dystrophy (skeletal muscle and heart function), spinal muscular atrophies (SMA), limb girdle muscular dystrophies and myotubular myopathies. Genethon is especially concentrating its efforts on developing modes of administration that ensure easy and effective distribution of the therapeutic gene-drug to a wide range of muscles, as well as on large-scale bioproduction of AAV (adeno-associated virus) vectors.
Genetic eye disorders usually result in severe visual impairment and often occur during infancy. They are a target of choice for gene therapy given the small size of the treatment site and its immune-privileged nature. Through its Ocular Gene Therapy network, Genethon is currently researching pathologies such as Leber’s Hereditary Optic Neuropathy, Leber’s Amaurosis and pigmentary retinopathy due to Bardet-Biedl Syndrome.
The transplantation of hematopoietic stem cells genetically modified by gene transfer has proven its worth in the treatment of X-linked Severe Combined Immunodeficiency (X-SCID) and adenosine deaminase deficiency SCID (ADA-SCID). Genethon is broadening this approach still further, by targeting other immune and blood-related pathologies such as Wiskott-Aldrich Syndrome (WAS), chronic granulomatous disease (CGD), radiosensitive severe combined immunodeficiency (Artemis deficiency) and Fanconi anemia.
Other pathologies being researched include Crigler-Najjar Syndrome (a liver disease) and junctional epidermolysis bullosa (a skin disorder). The treatments being developed for these conditions are based on AAV (adeno-associated virus) and lentiviral systems.
