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: 10646389
• 负责人: Lord Jephthah Joojo Gowans
• 金额: $ 9.2万
• 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/10646389
• 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：Jephthah Joojo Gowans勋爵，系高级研究员/讲师 夸梅·恩克鲁马科技大学生物化学和生物技术及牙科学院 技术(Knust)，加纳。他的研究重点是复杂性状的遗传学，特别是 颅面和牙齿畸形，包括口面部裂(OFCs)。他发起并执行了有史以来第一个 加纳人对OFCs的遗传病因学研究，这一壮举最终导致了合作和 与美国爱荷华大学的Murray和Butali实验室一起进行的指导活动。鉴于此， 由于非洲人口在基因和基因组研究中的代表性不足，戈恩斯博士的合作 研究表明，非洲基因组有可能揭示可能 解释了各种复杂的性状表型。职业目标：他的短期目标是进一步阐明 非洲多胎家庭和双胞胎家庭中OFCs的遗传结构 与离岸金融中心格格不入。他的长期目标是成为一位久负盛名的独立人士 在颅面和牙齿研究方面的研究人员，将他的研究扩展到整个非洲和 把他的发现外推到世界上的其他人口。这将在不经意间影响个性化和 精准医疗和加强旨在减少离岸金融中心发病率的措施。各位导师， 顾问和合作者：Gowans博士将继续得到Azeez Butali博士(美国)的指导 在整个颁奖期间，两位主要导师)和Peter Donkor博士(Knust/加纳小学导师)都参加了颁奖仪式。两者都有 布塔利博士和顿克尔博士在戈恩博士的研究生学习期间曾指导他。布塔利医生是一位老牌的 伊利诺伊大学颅面和牙科研究的研究员，他是非洲颅面畸形的负责人 研究网络(AfriCRAN)。Donkor医生是Knust/Kath的口腔和颌面外科顾问医生， 拥有丰富的OFC护理和研究经验，以及对医学实习生的指导， 牙科等。玛丽·L·马拉齐塔博士(匹兹堡大学)，OFC遗传学的敏锐研究员 病因学和现象学研究，将担任顾问。罗伯特·康奈尔博士(斑马鱼发展商 UI的生物学家)和Alexander Acheampong Oti(OFC外科医生和表现学专家)将担任 该项目的合作者。职业发展计划：这将包括深化戈恩斯博士的 通过进一步研究对复杂性状遗传学的理解；遗传、表型和发育 关于离岸金融中心的生物学研究；以及通过研讨会、讲习班和 专业会议。研究策略：Gowans博士将使用完整的外显子组测序，亚基因组测序 斑马鱼的表型分析和功能研究以破译和阐明斑马鱼的遗传病因学 多人家庭和双胞胎家庭中的离岸金融中心与离岸金融中心不协调。制度环境：两者皆有 Knust(主办机构)和伊利诺伊大学致力于为Gowans博士提供的职业发展培训。