Elucidating Cleft Etiology Employing Multiplex and Twin Families (ElCEEMuTF)

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Candidate: Dr. Lord Jephthah Joojo Gowans is a Senior Research Fellow/Lecturer at the Department of Biochemistry and Biotechnology, and Dental School, at Kwame Nkrumah University of Science and Technology (KNUST), Ghana. His research focus is genetics of complex traits, with special focus on craniofacial and dental anomalies, including orofacial clefts (OFCs). He initiated and executed the first ever genetic etiologic research on OFCs among Ghanaians, a feat which culminated in collaborative and mentoring activities with the Murray and Butali Laboratories at the University of Iowa (UI), USA. Inasmuch as the African population is underrepresented in genetic and genomics research, Dr. Gowans’ collaborative studies have demonstrated that the African genome has the potential of revealing genetic variants that may account for various complex trait phenotypes. Career goals: His short term goal is to further elucidate the genetic architecture of OFCs among Africans employing multiplex families and families with twins discordant for OFCs. His long term goal is to become an established and renowned independent investigator in craniofacial and dental research by extending his studies to the whole of Africa and to extrapolate his findings to other populations of the world. This will inadvertently impact personalized and precision medicine and strengthen measures aimed towards reducing the incidence of OFCs. Mentors, Consultants and collaborators: Dr. Gowans will continue to enjoy the mentorship of Dr. Azeez Butali (US Primary Mentor) and Dr. Peter Donkor (KNUST/Ghana Primary Mentor) throughout the award period. Both Drs. Butali and Donkor mentored Dr. Gowans during his graduate studies. Dr. Butali is an established researcher in craniofacial and dental research at UI who directs the African Craniofacial Anomalies Research Network (AfriCRAN). Dr. Donkor is a Consultant Oral and Maxillofacial Surgeon at KNUST/KATH, with extensive experience in OFC care and research, as well as mentoring of trainees in medicine, dentistry, etc. Dr. Mary L Marazita (of the University of Pittsburg), an astute researcher in OFC genetic etiologic and phenomic studies, will serve as a consultant. Drs. Robert Cornell (a zebrafish developmental biologist at UI) and Alexander Acheampong Oti (OFC surgeon and phenomics expert) will serve as collaborators on the project. Career development plan: this will include deepening Dr. Gowans’ understanding of complex trait genetics through further studies; genetic, phenomic and developmental biology research on OFCs; and career development activities through seminars, workshops and professional conferences. Research strategy: Dr. Gowans will employ whole exome sequencing, sub- phenotype analyses and functional studies in zebrafish to decipher and elucidate the genetic etiology of OFCs in multiplex families and families with twins discordant for OFCs. Institutional environment: Both KNUST (host institution) and UI are committed to the career development training proposed for Dr. Gowans.