Elucidating Cleft Etiology Employing Multiplex and Twin Families (ElCEEMuTF)

利用多重和双胞胎家庭阐明唇裂病因 (ElCEEMuTF)

• 批准号: 10870325
• 负责人: Lord Jephthah Joojo Gowans
• 金额: $ 7.21万
• 依托单位: KWAME NKRUMAH UNIVERSITY/SCIENCE/TECH
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-09-13 至 2024-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10870325
• 关键词: Affect; Africa; African; African ancestry; Algorithms; Asian population; Award; Biochemistry; Biological Assay; Biological Models; Biotechnology; Caring; Caucasians; Cells; Classification; Cleft Palate; Cleft lip with or without cleft palate; Complex; Complex Genetic Trait; Congenital Abnormality; Craniofacial Abnormalities; DNA Sequence; Data; Dental; Dental Research; Dental Schools; Dentistry; Detection; Development; Development Plans; Developmental Biology; Educational workshop; Embryo; Environment; Environmental Risk Factor; Ethnic Origin; Etiology; Exhibits; Face; Family; Family Study; Family history of; Family member; Fluorescent in Situ Hybridization; Gene Expression Profile; Genes; Genetic; Genetic Predisposition to Disease; Genome; Genomics; Ghana; Goals; Haplotypes; Heterogeneity; Human; Human Genome; In Situ Hybridization; Incidence; Individual; Institution; Iowa; Laboratories; Lip structure; Live Birth; Measures; Medicine; Mentors; Mentorship; Modeling; Morphogenesis; Multifactorial Inheritance; Oral; Outcome; Palate; Parents; Pathogenicity; Penetrance; Phenotype; Population; Prevention; Recurrence; Research; Research Personnel; Risk; Role; Science; Surgeon; Technology; Testing; Training; Twin Multiple Birth; Universities; Variant; Zebrafish; arm; candidate validation; career; career development; clinically significant; congenital anomaly; craniofacial; craniofacial development; ethnic disparity; exome sequencing; experience; genetic architecture; genetic risk factor; genetic variant; genome wide association study; genomic locus; in silico; insight; lecturer; maxillofacial; novel; orofacial cleft; personalized medicine; phenomics; precision medicine; risk variant; saliva sample; symposium; trait

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.

候选人：Jephhah Joojo Gowans博士是该系的高级研究员/讲师 Kwame Nkrumah科学大学的生物化学和生物技术和牙科学校 技术（Knust），加纳。他的研究重点是复杂特征的遗传学，特别关注 颅面和牙齿异常，包括口腔裂（OFC）。他发起并执行了有史以来的第一个 关于OFC在加纳人中的遗传病因研究，这一壮举最终达到了协作和 在爱荷华大学（UI）的默里和布塔利实验室的指导活动。不知所措 由于非洲人口在遗传和基因组学研究中的人数不足，Gowans博士的合作 研究表明，非洲基因组具有揭示遗传变异的潜力 解释各种复杂的特征表型。职业目标：他的短期目标是进一步阐明 非洲人之间OFC的遗传建筑，雇用了多个家庭和双胞胎的家庭 与OFC不一致。他的长期目标是成为一个成熟且著名的独立 通过将其研究扩展到整个非洲和 将他的发现推向世界其他人群。这将无意中影响个性化和 精确医学和加强旨在减少OFC事件的措施。导师， 顾问和合作者：Gowans博士将继续享受Azeez Butali博士的心态（美国） 在整个奖项期间，小学导师）和彼得·唐科（Peter Donkor）博士（诺斯特/加纳小学导师）。两个都 博士。 Butali和Donkor在研究生学习期间指导了Gowans。 Butali博士是一个已建立的 UI的颅面和牙科研究人员指导非洲颅面异常 研究网络（非洲）。 Donkor博士是Knust/Kath的顾问口头和颌面外科医生 在OFC护理和研究方面具有丰富的经验，以及对医学学员的心理经验， 牙科等。 病因和现象研究将作为顾问。博士。罗伯特·康奈尔（斑马鱼的发展 UI的生物学家和Alexander Acheampong OTI（OFC外科医生和现象学专家）将作为 该项目的合作者。职业发展计划：这将包括加深Gowans博士 通过进一步的研究了解复杂的性状遗传学；遗传，现象和发展 OFC的生物学研究；以及通过半手赛，研讨会和职业发展活动 专业会议。研究策略：Gowans博士将采用整个外显子组测序，子 - 斑马鱼中的表型分析和功能研究破译和阐明 多个家庭和双胞胎家庭中的OFC与OFC不一致。机构环境：两者 Knust（接待机构）和UI致力于为Gowans博士提供的职业发展培训。