Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing GENEPIC

What this Trial Is About

Researchers are studying the genetic factors involved in non-syndromic cleft lip and palate (NSCL/P), a condition affecting craniofacial development. Despite advances in identifying genes related to facial formation, the molecular causes of NS human clefting remain largely unknown. This trial uses whole exome sequencing (WES), a proven method effective in identifying genes responsible for related syndromes, to better understand the genetic basis of NSCL/P. Participants undergo a clinical questionnaire and provide genetic samples for analysis through high-throughput exome sequencing. The study is organized by a multidisciplinary team at a university hospital, focusing on patients precisely diagnosed with NSCL/P who are followed at this center. The main study activity is the identification of genetic factors involved in cleft conditions using WES. Participants are involved through providing clinical information and genetic samples for sequencing. Researchers analyze the genetic data alongside patient questionnaires to identify relevant genetic factors. The primary outcome is the identification of these genetic factors on the first day of participation. The study does not involve treatment and is focused on genetic research related to orofacial clefts.

Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing