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: 10207590
• 负责人: Lord Jephthah Joojo Gowans
• 金额: $ 9.13万
• 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/10207590
• 关键词: Affect; Africa; African; Algorithms; Asians; Award; Biochemistry; Biological Assay; Biological Models; Biotechnology; Caring; Caucasians; Cells; 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; Genetic Risk; 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; Syndrome; Technology; Testing; Training; Twin Multiple Birth; Universities; Variant; Zebrafish; arm; base; career; career development; clinically significant; craniofacial; craniofacial development; ethnic disparity; exome sequencing; experience; genetic architecture; genetic variant; genome wide association study; genome-wide; genomic locus; in silico; insight; lecturer; maxillofacial; novel; orofacial cleft; personalized medicine; personalized predictions; 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.

Jephthah Joojo Gowans勋爵博士是该部门的高级研究员/讲师。 夸梅恩克鲁玛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，特别关注 颅面和牙齿异常，包括口面裂（OFC）。他发起并执行了有史以来第一个 加纳人中OFCs的遗传病因学研究，这一壮举最终导致了合作和 与美国爱荷华州大学Murray和Butali实验室合作开展指导活动。Inasmuch 由于非洲人口在遗传和基因组学研究中的代表性不足，Gowans博士的合作 研究表明，非洲基因组有可能揭示遗传变异， 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 采用多胞胎家庭和双胞胎家庭的非洲人OFC的遗传结构 与离岸金融中心不一致。他的长期目标是成为一个建立和著名的独立 他是颅面和牙科研究的调查员，将他的研究扩展到整个非洲， 将他的发现推广到世界其他地区这将不经意地影响个性化和 精准医疗和加强旨在减少OFC发病率的措施。导师们， 顾问和合作者：Gowans博士将继续接受Azeez Butali博士（美国 小学导师）和博士彼得Donkor（KNUST/加纳小学导师）在整个颁奖期间。两 Drs. Butali和Donkor在Gowans博士的研究生学习期间指导了他。布塔利医生是一位 UI颅面和牙科研究的研究员，他指导非洲颅面异常 研究网络。Donkor博士是KNUST/KATH的口腔和颌面外科医生顾问， 具有丰富的眶额皮层护理和研究经验，以及指导医学实习生， 玛丽L Marazita博士（汉堡大学），一个敏锐的研究员在OFC遗传 病原学和表型学研究，将担任顾问。罗伯特康奈尔博士（斑马鱼发育 UI的生物学家）和亚历山大Acheampong Oti（OFC外科医生和表型组学专家）将担任 项目的合作者。职业发展计划：这将包括深化博士Gowans的 通过进一步研究了解复杂的性状遗传学;遗传，表型和发育 关于OFC的生物学研究;通过研讨会、讲习班和 专业会议。研究策略：Gowans博士将采用全外显子组测序，亚 斑马鱼的表型分析和功能研究，以解释和阐明 多胎家庭和双胎家庭的OFC不一致。体制环境：两者 KNUST（主办机构）和UI致力于为Gowans博士提供职业发展培训。