Dr. Nabil Arrach
Progenesis Inc & the University of California, Irvine
Title: Reducing the Burden of Genetic Diseases via IVF and Preimplantation Genetic Diagnosis
Biography
Biography: Dr. Nabil Arrach
Abstract
It has been estimated that 5.3% of newborns worldwide will develop a genetic disorder. Certain inherited diseases seem to cluster in particular ethnic groups where consanguinity is common. For example, Canavan, Gaucher, and Maple syrup urine diseases are more common in the Ashkenazi population, while individuals of Middle Eastern descent have higher incidence of beta-thalassemia and sickle cell anemia.
Living with a genetic condition comes at a considerable financial cost to patients and dramatically impacts the healthcare system. Cystic fibrosis, for instance, is a life-threatening disease that is estimated to cost patients over $300,000 in medical expenses during their lifetime. Mitochondrial complex I deficiency is an example of a hereditary disease that has no promising treatments and is typically fatal in early childhood. Mitochondrial replacement through three-parent IVF has recently been used to minimize chance of passing mitochondrial disease to the offspring. Although this technique has yet to be legally approved in most countries, a breakthrough genome-editing technology has the potential to cure mitochondria disease. Progenesis and collaborators are currently exploring CRISPR technology to correct mitochondrial mutations in humans.
Standard practice for preventing genetic disorders in IVF involves parental carrier screening to identify disease-causing mutations, followed by preimplantation genetic diagnosis (PGD) to test embryos for the the mutation before implantation. Industry standards for carrier screening typically include a few hundred genes linked to Mendelian disorders. PGD is used after carrier screening to test embryos for one specific genetic condition, but has the potential to screen for hundreds of human diseases simultaneously. The future of inherited disease control with IVF may eliminate the need for carrier screening by replacing it with comprehensive PGD testing. These tests can significantly reduce the risks of inheriting a genetic disease, alleviate the economic burden on patients and healthcare system, and improve overall quality of life.