EMPOWERING AFRICAN GENOMICS

Inqaba Biotec, in partnership with CERI and Radboud University Medical Center, hosted a three-day workshop on next-generation sequencing for rare genetic disorders, uniting global experts and African researchers to advance genomic research and collaboration across the continent.

text: Katrine Anker-Nilssen photos: Maambele Khosa

TInqaba Biotec, in collaboration with CERI and Radboud University Medical Center, held a workshop titled “Analysis and interpretation of NGS data for rare genetic disorders” from October 27 to 29, at the CERI Data Centre. The three-day event featured expert presentations from Prof Christian Gilissen and Prof Alex Hoischen, focusing on exome and genome data analysis, variant interpretation in medical genetics, and the utility of long-read sequencing.

Established in 2022 and rooted in Sub-Saharan Africa, Inqaba Biotec is a unique African genomics company whose name, meaning “rare and precious” in IsiXhosa, reflects its South African origins.

Dr Oliver Preisig, Executive Director and Co-founder, noted that Inqaba has facilitated various workshops for over 20 years. “We are a technology provider, and we recognize the need for hands-on teaching with experienced researchers in the field,” he said. “It’s wonderful to see so many people attending as this was the first workshop of its kind focused on rare diseases. Given the turnout, I can definitely see the need for more, possibly one in Gauteng next time for broader accessibility.”

Dr Preisig emphasised that the attendance of participants at a free workshop signifies true interest. “It takes time and experience to set something like this up, and most importantly, we need good, experienced speakers. We were fortunate to have Alex and Christian,” he added.

Prof Christian Gilissen, one of the speakers, studied computer science and obtained his PhD from the Department of Human Genetics at Radboud University Medical Center, focusing on identifying novel disease genes through next-generation sequencing (NGS).

He has worked on developing computational methods for analysing high-throughput sequencing data and identifying genetic causes of rare diseases and intellectual disability.

When asked about strategies for promoting genomic research and awareness of rare diseases, he mentioned the value of rare disease hackathons, where multidisciplinary teams – including clinicians, molecular geneticists, and bioinformaticians –collaborate intensively to solve long-unsolved patient cases.

Prof Gilissen appreciated the engaged participants, noting their good knowledge level. “I hope they can apply what they’ve learnt in their work and think ahead about new technologies that can aid their research or resolve patient cases,” he remarked.

Prof Alex Hoischen, leading the research group ‘Genomic Technologies and Immuno-Genomics’ at Radboud University Medical Center, was the second workshop speaker. His group made significant discoveries, including identifying disease-causing dominant de novo mutations via exome sequencing.

He emphasised that technological advancements have revolutionised the interpretation of genetic variants in rare diseases. “Our previous assessments were never complete, but we can now examine nearly all variants in a genome, which is crucial for patients with rare diseases,” he noted.

Prof Hoischen expressed enthusiasm for the interactive nature of the workshop, highlighting the participants’ engagement and insightful questions. He encouraged inquiries of all types, asserting that no question is naïve or irrelevant. “Engaging discussions make the event exciting, and if you can achieve that, it’s usually very gratifying,” he said.

A total of 35 motivated participants attended the workshop, eager to learn, share knowledge, and foster collaboration. Rafeeqah Jacobs from A-Plus Clinical Laboratories shared her excitement about applying new skills for optical genome mapping, stating that the workshop helps lay a foundation for future testing and patient data interpretation.

Marelize Immelman from the University of Cape Town (UCT) and National Health Laboratory Services (NHLS) noted the increasing reliance on NGS in public health diagnostics, emphasising the workshop’s value in teaching how to prioritise and interpret findings.

“Connecting with people from UCT, NHLS, Inqaba, and PacBio is invaluable because we’re all working towards the same goal,” she explained.

Brent Potter from UCT found that the workshop exceeded his expectations, pointing out that the knowledge and intuitive tools gained would be invaluable in his lab. Lisa Roberts, also from UCT, expressed her eagerness to learn from the renowned speakers, intending to share the knowledge gained with her students.

NHLS’s Shrinav Dawlat cherished the opportunity to listen to and meet both speakers, appreciating the insights into their work in Europe and the connections fostered through Inqaba.

The Rare Diseases Workshop successfully brought together participants eager to expand their knowledge and skills in genomic research. The collaboration between Inqaba Biotec, CERI, and Radboud University Medical Center not only facilitated knowledge sharing among experts and attendees but also laid the groundwork for continued engagement and collaboration in advancing the understanding of rare genetic disorders in Africa.

OPPOSITE: The full Rare Disease Workshop team; participants, Dr Oliver Preisig and speakers Prof Christian Gilissen and Prof Alex Hoischen.

BELOW, LEFT: Prof Tulio de Oliveira with Inqaba Executive Director and co-founder, Dr Oliver Preisig.