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Principal Investigator: Dr Oluwafemi Gabriel Oluwole, M.sc., Ph.D.
University of Cape Town, South Africa.
Complex traits are known not to behave according to simple Mendelian inheritance disease. More specifically, their inheritance cannot be explained by the genetic segregation of a single gene. They are believed to result from variation within multiple genes and their interaction with behavioral and environmental factors.
Mission of the project
Mission of the project
The mission of this project is to investigate a significant number of individuals from underrepresented populations to determine the contributions of genetic influences in some of the known complex traits.
The focus of the project is to study the genetic architecture of a population including statistical analysis of disease-susceptibility genes in a community and evaluating the association of common or rare SNPs/mutations with genetic relatedness and mapping epigenetic modification in different cases.
Hence, the areas that we are planning to investigate includes:
Genetic architecture
Identification and annotation of pathogenic variants
Functional analyses using wet lab and computational multiomics methods
The project currently seeks collaborations and funding opportunities.
Genetics of Parkinson's Disease
Genetics of Parkinson's Disease
The prevalence of Parkinson’s disease (PD) is increasing in sub-Saharan Africa, but little is known about the genetics of PD in these populations. Due to their unique ancestry and diversity, sub-Saharan African populations have the potential to reveal novel insights into the pathobiology of PD.
Dr Oluwafemi has successfully investigated the genetics of PD in small cohorts of South African and Nigerian populations, and found that several rare variants were deleterious in these populations which were not known initially. However, further studies are required to determine the biological effects of the genetic variants.
Genetics of Hearing Impairment
Genetics of Hearing Impairment
Hearing impairment or hearing loss or deafness is one of the world’s oldest health conditions. Presently, close to 500 million individuals are affected globally. This number is expected to increase to 630 million by the year 2030 and over 900 million in the year 2050. In most populations, genetic factors contribute to about half of cases of congenital Hearing Impairment, of which about 70% are nonsyndromic hearing impairment (NSHI). Dr Oluwole is tailoring research to unravel the mysteries behind hearing impairment in African patients. In one of his studies, they used whole exome sequencing (WES) to investigate variants in selected novel human-mouse ortholog hearing impairment genes, associated with HI in an autosomal recessive manner, among individuals affected with NSHI from Cameroon and South Africa. They identified novel variants in heterozygote and homozygotes forms believed to contribute to the disease.
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