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)

基本信息

批准号：
10017951
负责人：
Lord Jephthah Joojo Gowans
金额：
$ 9.12万
依托单位：
KWAME NKRUMAH UNIVERSITY/SCIENCE/TECH
依托单位国家：
美国
项目类别：
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/10017951
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 Saliva Sampling 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 symposium trait

项目摘要

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：Lord Jephthah Joojo Gowans 博士是该系的高级研究员/讲师夸梅·恩克鲁玛科技大学生物化学与生物技术和牙科学院加纳科技大学（KNUST），他的研究重点是复杂性状的遗传学。他发起并实施了首例颅面部和牙齿异常手术，包括口面部裂隙 (OFC)。对加纳人 OFC 的遗传病因学研究，这一壮举最终在合作和与美国爱荷华大学 (UI) Murray 和 Butali 实验室的指导活动。由于非洲人口在遗传和基因组学研究中的代表性不足，高恩斯博士的合作研究表明，非洲基因组有可能揭示遗传变异，这些变异可能解释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家庭和双胞胎家庭中 OFC 的遗传结构他的长期目标是成为知名的独立人士。颅面和牙科研究的研究员，将他的研究扩展到整个非洲并将他的发现推断到世界上其他人群，这将无意中影响个性化和个性化。旨在减少 OFC 发生率的精准医疗和强化措施，顾问和合作者：Gowans 博士将继续享受 Azeez Butali 博士（美国）的指导首席导师）和 Peter Donkor 博士（KNUST/加纳首席导师）在整个获奖期间都是如此。 Butali 博士和 Donkor 博士在 Gowans 博士的研究生学习期间担任过他的导师。伊利诺伊大学颅面和牙科研究研究员，负责非洲颅面异常研究研究网络 (AfriCRAN) Donkor 博士是 KNUST/KATH 的口腔颌面外科医生顾问，在 OFC 护理和研究以及医学实习生指导方面拥有丰富的经验， Mary L Marazita 博士（匹兹堡大学），OFC 遗传学领域的精明研究员病因学和表型组学研究，将担任顾问罗伯特·康奈尔博士（斑马鱼发育）。 UI 生物学家）和 Alexander Acheampong Oti（OFC 外科医生和表型组学专家）将担任该项目的合作者：这将包括深化高恩斯博士的职业发展计划。通过进一步的遗传、表型和发育研究了解复杂的性状遗传学； OFC 的生物学研究；以及通过研讨会、讲习班和职业发展活动研究策略：Gowans 博士将采用全外显子组测序、分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多重家庭中的 OFC 和双胞胎家庭中的 OFC 不和谐制度环境：两者都是。 KNUST（主办机构）和 UI 致力于为 Gowans 博士提供职业发展培训。