Geoff MacKay, president and CEO of Avrobio, described the company’s history and philosophy for developing ex vivo gene therapies for various diseases, such as Pompe disease, Fabry disease, Gaucher disease, and cystinosis.
As Mackay explains in this video, the mission of the company is to free people from a lifetime of genetic disease with a single dose of gene therapy. To that end, they are using lentiviral vectors to integrate the therapeutic gene into the patient’s own stem cells that in theory should stop the disease progression and/or cure the person of the disease.
Pompe disease is a rare lysosomal disorder due to mutations on the GAA gene that leads to reduced levels of acid alpha-glucosidase (GAA) and increased levels of glycogen. This accumulation of glycogen, especially in muscles, can lead to numerous complications. It is due to mutation in the xxx gene.
Fabry disease is another rare lysosomal disorder due to mutations in the GLA gene that results from the buildup globotriaosylceramide. Characteristic features of Fabry disease include episodes of pain, acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, tinnitus and various gastrointestinal systems.
Gaucher disease is a lysosomal disorder in which mutations in one of two genes (N370S or L444P) leads to increased levels of glucocerebroside. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen.
Cystinosis is a rare lysosomal disease in which mutation in the CTNS gene causes the accumulation of cystine in the body. Organs most often affected are kidneys, eyes, muscles, pancreas, and brain.
