Two UKZN PhD candidates, a PhD graduate and their supervisor participated in the 14th International Congress for Human Genetics in Cape Town.
The two students and PhD graduate, Mrs Sarah Walters, Mrs Heidi du Preez and Dr Thirona Naicker presented posters, whilst Professor Colleen Aldous was invited as a speaker. All four presented novel research including a study on cleft lip and palate genes, the epigenetic effects on a genetic skin disorder, healthcare practitioners’ lack of genetics knowledge, and collaboration between lay support communities and research groups for rare disease research.
According to Aldous, ‘The most important reason patients and lay patient support groups should be considered research partners is that such collaboration will contribute most effectively to evidence-based medicine for those who need it. Without support group involvement, isolated pockets of academic research occur depending on available expertise, funding, and access to research participants. The diagnostic odyssey for a patient with a rare disease is 7.5 years. The only way this can be reduced is through collaboration across institutional as well as political borders, with patients as partners. Lay support groups are composed of individuals with lived experience or individuals who care for someone with a particular medical condition and often have comprehensive expert knowledge of the disease.’
Walter’s research examined healthcare practitioners’ (HCPs) knowledge of genetics. The study, which was based in Gauteng, found that 70% of HCPs who participated reported poor knowledge of genetics whilst the majority expressed keen interest in learning more. Walters recommended genetics educational programmes offered through Continuing Professional Development (CPD) accredited workshops, journal articles and webinars on a regular basis.
Naicker, who graduated with her PhD last year, presented work from her thesis which assessed whether there are novel cleft variants in the Durban population. She identified 10 variants with five identified as rare, novel variants that were classified as pathogenic or likely pathogenic according to the American College of Medical Genetics and Genomics classification. ‘These findings are interesting for KwaZulu-Natal and South Africa, as it is the first study to look at cleft genes in our population. Once we know more about the South African cleft genes, one can offer an orofacial clefts (OFC) gene panel to our patients for early diagnosis which will allow us to better counsel them on the modes of inheritance of certain genes and possibly prevent OFCs in future generations using prenatal testing for these genes,’ said Naicker.
Du Preez presented a case study of a young girl with a type of skin cancer called anaplastic large cell lymphoma (ALCL) that appeared all over her body after swimming in chlorinated pools. She had a genetic mutation that made it harder for her body to process sulfur. Chlorine in the pool water also made it harder for her body to use sulfur properly. This led to problems with her cell surfaces, which may have contributed to her cancer. The cancer cleared up when she took a supplement that helped her body use sulfur better and avoided swimming in chlorinated water.
Genetics research plays a vital role in precision medicine. According to the Precision Medicine Initiative, precision medicine is ‘an emerging approach for disease treatment and prevention that considers individual variability in genes, environment, and lifestyle for each person.’ This approach allows doctors and researchers to predict more accurately which treatment and prevention strategies for a particular disease will work in which groups of people.
The UKZN geneticists’ research has contributed to an improved understanding of the various gene variants, thereby supporting disease treatment with a more individualised approach.
Words: MaryAnn Francis