By James, Michael Igiri
Identifying the loci associated with clefts, as well as modifying nucleotide sequences using genetic engineering, and understanding the various contributing factors are initial steps in finding ways to decrease the prevalence of orofacial cleft.
This was revealed in an inaugural lecture delivered by Prof. Wasiu Adeyemo on Wednesday 18th October, 2017 at the J.F Ade Ajayi Auditorium, University of Lagos, Lagos.
The renown professor of Oral and Maxillofacial surgery who lamented the poor state of oral and facial studies in Nigeria stated that available prevalence studies on cleft lip and palate in the country are either single-centred or multi-centred hospital based studies which are not a good representation of the severity of cleft burden in Nigeria. He therefore suggested there is a need for the federal government through its many agencies to sponsor a nationwide prevalence study of cleft lip and palate in Nigeria.
While explaining some basic surgical procedures in cleft surgery, he however revealed that cleft hip or cleft palate can be repaired potentially using genome editing tool. He further stated that the purpose of genome editing is to use molecular pair of scissor to cut DNA at the site with the ultimate aim of effecting a change in phenotype.
“Rather than molecular pair of scissors, Surgeons use surgical scissors and surgical blade to effect the change in phenotype (outlook/outward appearance) of the these patients,” he said.
As a ‘Surgeon-scientist’, Prof Adeyemo who works largely in a research team based at the college of medicine, University of Lagos highlighted some of his achievements including the identification and isolation of certain genomes as novel IRF6 Mutations in families with Van Der Woude Syndrome and Popliteal Pterygium Syndrome from Sub-Saharan Africa, discovery of rare Functional Variants in Genome-Wide Association Identified Candidates Genes for Non-syndromic Clefts, provision of evidence that as in Caucasian populations, mutations in GRHL3 contribute to the risk of non-syndromic CPO in the African population, as well as other novel discoveries.
“Our group was the first to publish study on genetics/genomics aetiology of cleft in Africa, one other study also demonstrated that there is a low burden of aetiology coding variants in GERM1, suggesting that variants in regulatory elements may account for the association between this locus and OFCs.
“Our team was part of consortium of 13 countries across five continents to report the results of a GWAS of non-syndromic Cleft palate only (CP) in a multi-ethnic sample. We further examined this variant in a zebrafish model and cell-based transactivation assays and conclude that it is an aetiologic variant for non-syndromic Cleft Palate. We also conducted a multi-ethnic GWAS Cleft Lip and Palate (CPL), and successfully conducted the first GWAS for OFC in Africa. Our group is the leading craniofacial genomics/genetics researchers in Africa, we have published more articles on genomics of orofacial clefts than any other research groups and are most cited in Africa. ”
The Surgeon-Scientist, who has also explored many other areas of Oral and Maxillofacial Surgery such as on molecular basis of jaw augmentation revealed that his work was the first to establish the fact that cell death by apoptosis is a fundamental component of osteoblastic phenotypic differentiation during healing of cortico-cancellous bone graft.
“As a Maxillofacial Surgeon, I developed a technic to repair bilateral cleft of the lip, where the lateral components of the prolabium are excised. With this technique, we avoided unsightly scar and excessive scar formation. My clinical expertise and research is not only limited to cleft lip and palate surgery and cleft genomics. I have also contributed significantly to knowledge in the areas of maxillofacial reconstructions, maxillofacial traumas, maxillofacial oncology, Dento-alveolar surgery, Orthognathic surgery and jaw augmentation.”
Looking at the socio-psychological and economic peculiarity of Nigeria, he reckoned that since Cleft lip and palate is a common congenial anomaly in the country , the quality of life of family/caregivers should be improved, as well as organising individual-focused counselling sessions for caregivers soon after birth as a way of providing an opportunity to discuss laid-out plans for supportive care and addressing the social issues by health professionals and counsellors.
Prof Adeyemo who berated the poor data availability and statistics on people with cleft and palate conditions in Nigeria harped on the need for a true Nigerian population study. “This a big budget research endeavour and there is an opportunity for academia, governmental and non-governmental organisations to make a big difference because epidemiology is an essential prerequisite for studies into aetiology and prevention- we can not afford to miss this opportunity.
“The Nigerian government should establish regional centres of excellence in orofacial cleft care to cater for the training, research and treatment of children with orofacial cleft. Also, genomics research and technology as well as precision medicine is changing the world, therefore I recommend the creation of Centre of Excellence in Human Genomic Research in Nigeria,” he concluded.