MD, PhD, Laboratory Founder, Genesis Genetics
Preimplantation Genetics has now been used for over 20 years first to help genetically at-risk couples begin their pregnancy knowing that their child will be healthy. The technology has expanded into also helping couples suffering from infertility improve (dramatically) their likelihood of having a successful IVF cycle. By examining a small biopsy from each IVF embryo, both genes and chromosomes are examined simultaneously, overnight in the laboratory, while the couple's embryos continue to develop in the incubator. Using the technologies of gene chips, whole genome sequencing, targeted gene mutation interrogation, pregnancy rates in IVF have soared and severe inherited disease removed from a couple's genetic tree.
Mark Hughes, one the authors on the French et al. (French, Adams et al. 2008) paper, is a pioneer in the field of Pre-implantation Genetic Diagnosis (PGD). His work has centered on understanding gene expression in the early human embryo and the molecular genetics of early embryo development. One of the highlights of his research has been the realization that molecular data from single cells can be used for diagnostic purposes. This led to a multi-year collaboration with IVF clinicians and embryologists at the Hammersmith Hospital in London and the birth of pre-implantation genetic diagnosis as a clinical tool.
Dr. Hughes was one of 11 scientists recruited to start the Human Genome Institute at the National Institutes of Health in the U.S., and has also held the position of Director of the State of Michigan’s “Life Sciences Genomics Hub.” Since 2007, Dr. Hughes has been conducting clinical PGD at the Genesis Genetics Institute in Michigan. This program offers diagnostic services to over 174 human reproductive centers in North/South America and Europe.
Mark Hughes MD, PhD, Laboratory Founder, Genesis Genetics, talks about the options genetically at-risk couples have and the decline in intimacy they experience due to the thought of having a child who must endure a genetic disease.