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Marie M Tolarova

Marie M Tolarova

University of the Pacific
USA

Title: Personalized medicine and craniofacial anomalies

Biography

Biography: Marie M Tolarova

Abstract

We are now in the era of personalized and precision medicine. The concept is not completely new. Importance of individualized diagnoses and treatments has been known for centuries and usually distinguished successful doctors from other doctors. A big credit for its renaissance at present goes to genomic medicine. rnFor several decades, we have been using genetic analyses to narrow and specify diagnoses of many syndromes involving orofacial clefts. Based on this, we could select the best treatment plan. rnNon-syndromic cleft lip and palate anomalies (NCLP) are generally not considered life-threatening medical conditions, as today’s interdisciplinary treatment leads to excellent outcome that enables a child or an adult born with orofacial cleft to live practically the same life as his or her peers. However, in developing and undeveloped countries, this is not the case. rnCleft lip and palate anomalies are the most common and the most severe congenital anomalies of the face and mouth and the second most common birth defects in general: in average, one in every 560 newborns is affected with a cleft. rnThis situation will not change until we will change our gears and focus our interest, time, and funding on development of efficient strategies for cleft prevention. And that is where genomics medicine, personalized and precision medicine has an unreplaceable role. It helps us to distinguish uniqueness of one individual from the other, to understand gene-gene, gene-environment, environment-environment interactions, and epigenetic status. In 1982, in the Lancet article, we showed that a significant proportion of cleft lip and palate anomalies are preventable. More evidence from our studies and studies of others was obtained later. Analysis of maternal diet, which is one of the critically important environmental factors, revealed four nutrients – we called them “candidate nutrients” – that were associated with NCLP most often: low intake of folate, zinc, and B6 vitamin, and high intake of vitamin A. rnWe are concluding that our studies combined with studies of others show enough scientific evidence that a significant proportion of NCLP can be prevented. However, different genes creating susceptibility for NCLP and different environmental factors triggering them exist in different populations, as well as between individuals: “ONE SIZE DOES NOT FIT ALL”. Therefore, prevention approach has to address these differences in specific cleft prevention strategies and really take advantage of all benefits offered by the personalized medicine.