Journal of Gastrointestinal & Digestive System
Open Access

Abstract

Omic technologies are dramatically changing the fields of biomedical research and patient diagnosis. The reducing cost of sequencing as well as robust experimental and computational protocols means that this technology is becoming available to most laboratories. However, correct interpretation of the data to identify disease-causing mutations in individuals with urogenital anomalies remains a challenge. A major goal of urogenital disease research should be the discovery of a core of excellent gene targets hit by recurrent mutations whose disruption may unequivocally cause the pathology being analysed. Focusing on exomes should be sufficient to uncover a great number of relevant targets in a cost-efficient and easily interpretable manner. The author will present examples from our research, where through exome sequencing we have identified mutations in novel genes in sporadic and small familial cases with urogenital disorders. The definition of the patient phenotype together with extensive genetic and other -omic datasets must be supplemented by functional in vitro, ex-vivo and in vivo models to dissect the molecular pathways underlying the pathology and giving not only diagnosis to patients but also potential personalised therapies. The author will present some of the strategies, using iPSC or direct transdifferentiation approaches on patient cells, which could be used to develop cellular models of diseases. These cellular models have the potential to faithfully capture cell-autonomous disease-related developmental defects.

Biography

Ken Mc Elreavey obtained his PhD from the Queen?s University of Belfast, UK and has worked for 25 years on understanding the genetics of human urogenital disorders and infertility. He has >160 peer reviewed publications and >150 invited lectures. He is the organizer of a biannual international community genetics workshop. He has been awarded the Henning-Andersen Prize in Pediatric Endocrinology, the Annandale Memorial Medal (The Asiatic Society) for Anthropological Research and he is a laureat French National Academy of Medicine. He is honorary Professor, Capital Medical University, Bejing, China and visiting Professor at the University of Calcutta.