Lord Jephthah Joojo Gowans

Biochemistry and Biotechnology

About

Dr. Gowans’ education, career path and expertise are in medical Genetics, Genomics and biotechnology, as well as developmental biology. His research interests include genetics and genomics of craniofacial phenotypes and other birth defects, including orofacial clefts, dental anomalies and craniosynostosis. He conceived and initiated the first ever genetics and genomics research on these conditions among Ghanaians. Dr. Gowans employs phenomics, exposomics, genome sequencing technologies, genetic engineering, cell lines, animal models (zebrafish) and bioinformatic tools to study these structural birth defects. He has cutting-edge publications on genetics and genomics research on dental and craniofacial anomalies and his group is credited for frontiering such research among Africans. His group carried out the first ever genome-wide association studies (GWAS) and whole genome sequencing (WGS) projects on orofacial clefts cohorts from Africa. Through the GWAS, his group discovered two novel genes (CTNNA2 and SULT2A1) associated with cleft palate aetiology. Dental anomalies he studies include microdontia, taurodontism, dens-in-dente, etc. He recently added craniosynostosis to the repertoire of diseases he studies. Dr. Gowans believes that the African genome, being the ancestral and oldest human genome with shorter haplotype blocks, when juxtaposed with the genome of other human ancestries could map and refine genetic pathways and variants that could impact positively on the aetiology, care and prevention of congenital disorders. Dr. Gowans thus directs and heads the Cleft-Craniofacial Genetics and Genomics Research Team at KNUST. Dr. Gowans has extensive collaborations with both domestic and international scientists from University of Lagos (Nigeria), Addis Ababa University (Ethiopia), and The University of Iowa (USA) through the African Craniofacial Anomalies Research Network (AfriCRAN) aimed at conducting cutting-edge research on orofacial clefts and other craniofacial birth defects. His craniosynostosis research is in collaboration with scientists at the University of Washington (UW)/Seattle Children’s Research Institute (SCRI), USA. As a Lecturer, Dr. Gowans teaches courses in molecular genetics, molecular biology, and biotechnology to graduate and undergraduate students of Biochemistry, and Biotechnology. He also serves as a Service Lecturer to the Dental School at KNUST where he instructs Bachelor of Dental Surgery (BDS) students on genetics and genomics of dental and craniofacial phenotypes, as well as health research. Dr. Gowans obtained his BSc degree in Biological Sciences at KNUST. During his PhD studies (which was a collaborative training between KNUST and the University of Iowa, USA), he majored in genetics, genomics and developmental biology, with a focus on craniofacial and dental anomalies research. His PhD research on the genetics and genomics of orofacial clefts was the first to be conducted among Ghanaians. Dr. Gowans also acquired a professional certification in genetics and genomics (SCGG) from Stanford University, Stanford, California, USA. He also obtained Certificate in Human and Mammalian Genetics and Genomics (CHMGG; McKusick Short Course) from Jackson Laboratory, USA, as well as Certificate in Statistical Genetics (CiSG; Summer Institute) from University of Washington. He also holds a Certificate in Statistical Genetics (CiSG) from the University of Washington, Seattle, USA. Dr. Gowans once served as a Senior Research Fellow (postdoctoral) on an H3Africa Bioinformatics Training and Education Node project, called WASLITBRe, at KNUST, as well as a Consultant on an H3ABioNet Bioinformatics project at KCCR, KNUST. He was a Fellow of Human Hereditary and Health (H3Africa) Consortium. In addition, he has attended and presented abstracts at several international conferences and workshops, including McKusick Short Course in Human and Mammalian Genetics and Genomics at Jackson Laboratory, USA, American Society of Human Genetics, H3Africa Consortium, American and International Association for Dental Research, etc. He is also a Visiting Research Scholar to the Butali Lab, Craniofacial Anomalies Research Center (College of Medicine) and Iowa Institute for Oral Health Research (College of Dentistry), The University of Iowa, Iowa City, USA. Dr. Gowans is a member of several professional societies in dentistry/oral health sciences, genetics, genomics, developmental biology and science in general. As a member of the Ghana Cleft Foundation, Dr. Gowans serves as the Geneticist and Genetic Counselor in the Cleft-Craniofacial Team at Komfo Anokye Teaching Hospital (KATH), Kumasi. He is also a member of American Society of Human Genetics (ASHG), The Global Genomic Medicine Collaborative (G2MC), African Society of Human Genetics (AfSHG), International Association for Dental Research (IADR), American Association for Dental Research (AADR), American Cleft Palate-Craniofacial Association (ACPA), African Craniofacial Anomalies Network (AfriCRAN) and Ghana Science Association (GSA). Dr. Gowans is a well-funded researcher, having obtained several subawards from the University of Iowa, USA, as well as serving as Co-Investigator (Co-I) and Principal Investigator (PI) on a number of National Institutes of Health (NIH)-funded projects. He is currently the PI on the following NIH grants: Dr. Gowans is also a Co-I on the following NIH research grants:

Research Summary

(inferred from publications by AI)

The researcher's overall research focus is centered on advancing our understanding of complex clefts, dental anomalies, and related health issues across multiple domains. Their work integrates genetics, oral health, and other specialized fields to explore genetic loci and pathways contributing to these conditions. For instance, rare variants in the peridermopathy syndromes (Van der Woude syndrome) are investigated for their functional impact on facial features, while efforts also address missing linkages between genetic variations and cleft-related phenotypes. Additionally, the researcher explores the interplay of environmental factors with c left development, such as dietary patterns and maternal nutrition, in Ghana. Their work emphasizes the importance of rare variants in explaining syndromic traits and their distribution across populations. Furthermore, they examine the role of epigenetic modifications like RNA changes in genetic disease causation, particularly linking them to conditions such as heart health in North wandering African adults. Through these diverse approaches—genetics, genetics, oral health, genetics again, dental health, rare variants, environmental factors, syndromes, and diseases—the researcher contributes to a holistic understanding of complex clefts and their management. Their work also highlights the potential for improving healthcare outcomes by better addressing genetic risk factors in populations with conditions like malnutrition or lipoprotein disorders.

Research Themes

All (51 Papers)

Life Sciences (48 Papers)

Health Sciences (3 Papers)

All Papers

Genomic analyses in African populations identify novel risk loci for cleft palate(2018)

Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate(2016)

Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations(2016)

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate(2022)

Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome(2020)

Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus(2021)

Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate(2017)

Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation(2019)

Variant analyses of candidate genes in orofacial clefts in multi‐ethnic populations(2021)

Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate(2023)

Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P)(2021)

Shared genetic risk between major orofacial cleft phenotypes in an African population(2024)

Rare variants analyses suggest novel cleft genes in the African population(2024)

Multi-ancestry Genome Wide Association Study Meta-analysis of Non-syndromic Orofacial Clefts(2024)

The prevalence, penetrance, and expressivity of etiologic<scp>IRF</scp>6variants in orofacial clefts patients from sub‐Saharan Africa(2017)

Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate(2018)

Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes(2021)

The Rule Of “10’s” in the Management of Unilateral Cleft Lip Children: The Komfo Anokye Teaching Hospital Experience(2019)

Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts(2023)

Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa(2024)

Perceptions and beliefs of community gatekeepers about genomic risk information in African cleft research(2024)

Genome-wide study of gene-by-sex interactions identifies risks for cleft palate(2024)

Craniofacial Surgery in a Low-Resource Setting: The Successes, Challenges, and Prospects(2024)

Whole-genome Sequencing Reveals De-novo Mutations Associated with Nonsyndromic Cleft Lip/Palate(2021)

Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate(2022)

Investigating the relationship between cancer and orofacial clefts using GWAS significant loci for cancers: A case-control and case-triad study(2022)

Assessing the Psychosocial Impacts of Whole-Genome Sequencing Outcomes on Orofacial Cleft Caregivers in Nigeria: A Mixed-Methods Study(2025)

Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts(2018)

Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate(2021)

Non-Random Distribution of Human Orofacial Clefts in Ghana: Gene-Environment Interactions(2018)

Genomic analyses in African populations identify loci for cleft palate(2019)

Variant Analyses of Candidate Genes in Orofacial Clefts in Multi‐Ethnic Populations(2021)

Role of Rare Variants in Craniofacial Enhancer Regions in the Etiology of Non‐Syndromic Orofacial Clefts(2021)

Author response for "Variant analyses of candidate genes in orofacial clefts in multi‐ethnic populations"(2021)

Genome-wide analysis refines the genetic architecture of orofacial clefts and identifies novel risk loci in the african population.(2018)

Author response for "Variant analyses of candidate genes in orofacial clefts in multi‐ethnic populations"(2021)

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy(2025)

Variants inCALD1,ESRP1, andRBFOX1are associated with orofacial cleft risk(2025)

Pharmacogenomics in Orofacial Clefts Care: Insights From Whole Genome Sequencing of Case-Parents Trios(2025)

Maternal Dietary Patterns, Food Security and Multivitamin Use as Determinants of Non-Syndromic Orofacial Clefts Risk in Ghana: A Case–Control Study(2025)

Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk(2025)

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios(2025)

Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus(2019)

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy(2025)

A mutational hotspot in <scp>AMOTL1</scp> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature(2023)

The Oral Health Status of Person with Special Needs in Kumasi(2024)

Using PCR and RCA Techniques to Investigate the Variants of Cassava Mosaic Virus and Their Distribution in Ghana(2024)

Novel Association of rs17111557(T) in PCSK9 with Higher Diastolic Blood Pressure in Northern Ghanaian Adults: Candidate Gene Analysis from an AWI-Gen Sub-Study(2025)

Pharmacogenomics in Orofacial Clefts Care: Insights from Whole-Genome Sequencing of Case-Parents Trios(2025)

Pathogenic FANCC Variants are Associated with Accessory Breasts in a Sub-Saharan African Multiplex Family(2025)

Pathogenic FANCC Variants Are Associated with Accessory Breasts in a Sub-Saharan African Multiplex Family(2025)

Collaboration Network

c52aa5b6-262c-4378-b9fa-b2f95738ab4e

Research Collaboration Map

Collaboration Frequency

Less

About This Profile

This profile is generated from publicly available publication metadata and is intended for research discovery purposes. Themes, summaries, and trajectories are inferred computationally and may not capture the full scope of the lecturer's work. For authoritative information, please refer to the official KNUST profile.

Back to Search