Webinar 9: December 09th, 12.00-13.00 (SAST); 11.00-12.00 (CET)

First talk:- Integration of genomics in precision medicine in Africa: Status, opportunities and challenges

Speaker: Dr. Victor Mobegi

Abstract: The advent of next generation sequencing (NGS) technologies has reduced the time and cost of sequencing genomes. Genomics has revolutionized clinical practice by making precision medicine a possibility. Having a “one-fits -all” treatment means that some patients benefit from the treatment while a large number also either have no benefit or have serious adverse events. Delivering targeted therapies will improve efficacy while also reducing adverse events. In precision medicine treatments are tailored based on the genetic profile of patients. Africa has the highest genetic diversity globally hence it is important to focus on understanding how genetic differences in African populations influence disease development and treatment outcomes. Genomics research is important to identify genomic variations that may affect effectiveness of therapies and also screening for predictive genomic markers. Genomic testing can help identify individuals at higher risk of certain diseases.

Second talk:- Nanopore-based DNA sequencing of the CFTR gene: first results from Moroccan cystic fibrosis patients

Speaker: Dr. Nada EL Makhzen

Abstract: Cystic fibrosis (CF) is an autosomal recessive disease resulting from pathogenic CF transmembrane conductance regulator (CFTR) gene variants. While CF's impact varies among ethnicities, its epidemiology, and mutational profiles in Africa still must be explored due to the absence of a comprehensive public health strategy. The objectives of this project are: (1) to demonstrate the interest and feasibility of applying long-read sequencing methods using the Oxford Nanopore Technology (ONT) products to identify variants responsible for CF in the African population, and (2) to study the biophysical and biochemical properties of the African-specific identified CFTR variants. To do so, we first designed 10 primer pairs allowing amplification of 25Kb-long PCR fragments covering the whole CFTR gene, barcoded libraries were prepared and sequenced on ONT flow cells (R10.4.1) using an Mk1C device. We anaylsed our data with our bioinformatical pipeline and assesed variant pathogenicity. With sequencing data obtained from 7 individuals, we identified the six variants. The previously uncharacterised CFTR variants p.(Ser364Pro) and p.(Phe1078Ser) exhibited diminished expression in HEK293 cells, substantiating their pathogenic nature, application of CFTR modulator drug treatment on those variants, has demonstrated improved function in the CFTR variant p.(Phe1078Ser). This study demonstrates the potential of long-read sequencing using ONT as an efficient means to detect CF-causing variants in African populations. Given the significant genetic heterogeneity in Africa, this technique can serve as a pivotal molecular screening tool for CF, especially in areas with constrained access to genetic screening.

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