Multidisciplinary approach to genomics research in Africa: the AfriCRAN model

Butali, Azeez; Mossey, Peter; Tiffin, Nicki; Adeyemo, Wasiu Lanre; Eshete, Mekonen; Mumena, Chrispinanus; Audu, Rosemary; Onwuamah, Chika; Agbenorku, Pius; Ogunlewe, MO; Adebola, Adetokunbo R; Olasoji, Hecto Oladapo; Aregbesola, Babatunde S.; Braimah, Ramat Oyebunmi; Oladugba, Abimibola Victoria; Onah, Ifeanyichukwu Igwilo; Adebiyi, Ezekiel; Olaitan, Peter B; Abdur-Rahman, Lukman O.; Adeyemo, Adebowale

doi:10.11604/pamj.2015.21.229.7380

Cited by 7 publications

(5 citation statements)

References 33 publications

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“…The African Craniofacial Anomalies Network (AfriCRAN) was established to recruit and investigate factors contributing to the risk of craniofacial anomalies within the African population. 9,21 Using the protocol designed by AfriCRAN, case-parent trios were recruited for this study. In some cases, recruitment also included the affected child and mother (dyads) in situations where the father was not available, as well as other family members.…”

Section: Methodsmentioning

confidence: 99%

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

Awotoye

Mossey

Hetmanski

et al. 2022

The Cleft Palate Craniofacial Journal

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Novel or rare damaging mutations have been implicated in the developmental pathogenesis of nonsyndromic cleft lip with or without cleft palate (nsCL ± P). Thus, we investigated the human genome for high-impact mutations that could explain the risk of nsCL ± P in our cohorts. We conducted next-generation sequencing (NGS) analysis of 130 nsCL ± P case-parent African trios to identify pathogenic variants that contribute to the risk of clefting. We replicated this analysis using whole-exome sequence data from a Brazilian nsCL ± P cohort. Computational analyses were then used to predict the mechanism by which these variants could result in increased risks for nsCL ± P. We discovered damaging mutations within the AFDN gene, a cell adhesion molecule (CAMs) that was previously shown to contribute to cleft palate in mice. These mutations include p.Met1164Ile, p.Thr453Asn, p.Pro1638Ala, p.Arg669Gln, p.Ala1717Val, and p.Arg1596His. We also discovered a novel splicing p.Leu1588Leu mutation in this protein. Computational analysis suggests that these amino acid changes affect the interactions with other cleft-associated genes including nectins (PVRL1, PVRL2, PVRL3, and PVRL4) CDH1, CTNNA1, and CTNND1. This is the first report on the contribution of AFDN to the risk for nsCL ± P in humans. AFDN encodes AFADIN, an important CAM that forms calcium-independent complexes with nectins 1 and 4 (encoded by the genes PVRL1 and PVRL4). This discovery shows the power of NGS analysis of multiethnic cleft samples in combination with a computational approach in the understanding of the pathogenesis of nsCL ± P.

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Section: Methodsmentioning

confidence: 99%

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

Awotoye

Mossey

Hetmanski

et al. 2022

The Cleft Palate Craniofacial Journal

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“…The corresponding advances in genomics and bioinformatics at the international level provided a new era of scientific applications and societal benefits; as could be seen from the assembling of scientists and policy makers in the conceptualisation of the Human Genome Project (Making & Hanna, 1991) and the Earth BioGenome Project (Lewin et al, 2018) which aims to understand human health and the world's biodiversity respectively. In Africa, similar efforts have been directed to understand the African genetic populations, build scientific capacity of African scientists, and ensure that the African continent benefits from this genomic revolution (Adebamowo et al, 2018;Azeez et al, 2015;Bah, et al, 2018;Karikari, et al, 2015;Mulder et al, , 2016Munung, et al, 2018;Shaffer et al, 2019). For instance, amongst others, several African human genetic and biodiversity population studies are being carried out by the Human Hereditary and Health in Africa (H3Africa) (Mulder et al, 2016), Biosciences eastern and central Africa -International Livestock Research Institute (BecA -ILRI) Hub (https://hub.africabiosciences.org), and the Alliance for Accelerated Crop Improvements in Africa (ACACIA) (Entfellner, 2018) respectively.…”

Section: Background To the Conferencementioning

confidence: 99%

First Nigerian Bioinformatics Conference (FNBC): Towards a dynamic bioinformatics community

Ebenezer¹,

Isewon²,

Oladipo³

et al. 2019

Preprint

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The human genome project, which was completed in 2003, ushered in a new era of scientific applications in medicine and bioscience, and also enhanced the generation of high-throughput data which required laboratory and computational analytical approaches in fields known as genomics and bioinformatics respectively. Internationally, specific advances have been achieved which involved the formation and emergence of strong scientific communities to sustain these technological advancements. On the African continent and regionally, the Human Hereditary and Health in Africa (H3Africa), Biosciences eastern and central Africa - International Livestock Research Institute (BecA - ILRI) Hub, and the Alliance for Accelerated Crop Improvements in Africa (ACACIA), are helping to push some of these advances in human health, biosciences, and agriculture respectively. In Nigeria, we believe that significant advances have also been made by various groups since the human genome project was completed. However, a scientific gathering platform to sustainably enable scientists discuss and update these progresses remained elusive. In this article, we report the First Nigerian Bioinformatics Conference (FNBC) hosted by the Nigerian Bioinformatics and Genomics Network (NBGN) in collaboration with the Nigerian Institute of Medical Research (NIMR). The conference was held from 24th - 26th June, 2019, with the theme: “Bioinformatics in the era of genomics in Africa”. Quantitatively, the conference recorded 195 online registered participants, and up to 186 actual participants; comprising of 8 keynote speakers, 6 invited speakers, 25 oral presenters, 83 poster presenters, and up to 73 non-presenting participants. Attendees with national (up to 179) and international (up to 16) affiliations also participated at the conference. Qualitatively, broad scope of bioinformatics, genomics and molecular biology presentations in biomedicine, health, and biosciences were featured at the conference. We discuss the conference structure and activities, lessons learned, and way forward for future bioinformatics conferences in Nigeria. We further discuss the relevance of the conference which presents an increased visibility for the Nigerian bioinformatics community, positions Nigeria as a dynamic community player within the African bioinformatics space, and provides a platform for national impact through the application and implementation of the benefits of bioinformatics.

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“…For example, an oral pathology research consortium known as the African Oral Pathology Research Consortium has worked as a leverage for multicentre oral cancer study in Nigeria [ 42 ]. Similarly, the African Craniofacial Anomalies Network has supported the capacity building and research in genomics and genetics of craniofacial anomalies through funding from the NIH and Wellcome Trust [ 43 ].…”

Section: Obstacles To Training and Retention Of Dentist-scientist In mentioning

confidence: 99%

The dentist-scientist career pathway in Africa: opportunities and obstacles

Adeola¹,

Adefuye²,

Soyele³

et al. 2018

Korean J Med Educ

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The future of evidence-based dentistry in developing Africa heavily depends on a sustainable establishment of a vibrant dentist-scientist workforce. A dentist scientist is saddled with the responsibility of carrying out robust cutting edge research projects that are inspired by clinical experience. Currently, there are no pipelines in place to systematically train such dentists, neither are there programs in place to allow trained African dentists choose such a career pathway. A dentist-scientist is a person who studied oral, dental, maxillofacial (or craniofacial) diseases, prevention, and population sciences (obtaining a medical degrees such as bachelor of dental surgery [BDS] or BChD) alone; or in combination with other advanced degrees such as doctor of dental surgery (DDS)/doctor of philosophy (PhD) or BDS/PhD. This situation has resulted in overdependence of African clinical practice on research findings from technologically advanced Western countries and a decline in clinical research capacity building. The career path of a dentist-scientist should involve research along the spectrum of basic biomedical sciences, translational, clinical and public health sciences. There are several factors responsible for the ultra-low count of dentist-scientist in the heterogeneous African communities such as: poor biomedical research infrastructure; lack of funding; absence of structured dentist scientist career pathways; lack of personnel, inter alia. Hence, this review hopes to discuss the opportunities of setting up a dentist-scientist training pathway in Africa (as obtains in most developed world settings), identify opportunities and prospects of developing an African dentist-scientist workforce, and finally discuss the challenges involved.

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Multidisciplinary approach to genomics research in Africa: the AfriCRAN model

Cited by 7 publications

References 33 publications

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

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

First Nigerian Bioinformatics Conference (FNBC): Towards a dynamic bioinformatics community

The dentist-scientist career pathway in Africa: opportunities and obstacles

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