Cleft Lip and Palate Study Results in Doctoral Degree for Paediatrician

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The first genetics study in South Africa on cleft lip and palate was funded by the Smile Train and titled: The Genetics of Orofacial Clefts in the African Setting.

Research work was conducted by Dr Thirona Naicker - a paediatrician in medical genetics, based at the Inkosi Albert Luthuli Central Hospital (IALCH) in Durban - securing her a Doctor of Philosophy in Paediatrics and Child Health (Medicine) degree.

According to Naicker, orofacial clefts (OFCs) represent one of the top five birth defects in South Africa. The cause of OFCs is multifactorial and includes interactions between genes and environmental factors. ‘Our study, which investigated the genetic aetiology of OFCs in KwaZulu-Natal (KZN), included 100 patients and their parents who were recruited at two Durban hospitals.’

Naicker’s study identified five rare, novel variants. Additionally, five of the 10 variants were classified as pathogenic or likely pathogenic according to the American College of Medical Genetics and Genomics classification. ‘These findings are interesting for KZN and South Africa as the study is the first to examine cleft genes among our population,’ she said. ‘Once we know more about South African cleft genes, we can offer an OFC gene panel to our patients for early diagnosis which will allow us to provide better counselling for them on the modes of inheritance of certain genes and possibly prevent OFCs in future generations using prenatal testing for these genes.’

Naicker hails from Pietermaritzburg and completed her Grade 12 at Raisethorpe Secondary. A wife and mother of two young children, Naicker experienced many challenges during her studies. ‘I am relieved to have completed this daunting and challenging task. The COVID-19 pandemic stopped saliva sample collection in 2020 and I was also unable to travel to the research lab at the University of Iowa to process samples,’ she said. ‘Professor Azeez Butali, my co-supervisor, and his students in Iowa worked on my samples. I eventually travelled to the USA this year to consolidate the lab work.’

‘UKZN is my alma mater as I completed my Medical degree in 2002 as well as my Paediatric diploma, fellowship and Master of Medicine through the prestigious Institution - this year marks our 20-year class reunion! UKZN has supported all my academic endeavours. Professor Colleen Aldous is an excellent supervisor, overseeing both my master’s and doctoral degrees. UKZN collaborated with the University of Iowa while Professor Butali was instrumental in guiding me through the project,’ said Naicker.

Said Aldous: ‘Dr Naicker has shown her dedication to both her patients and to science. She was passionate about her topic throughout her doctoral journey because she is one of those special people who sincerely want to make a difference. She exercised the same diligence in her master’s degree work, looking at the toll of haemophilia on the mothers of sons with the condition. Her diligence towards the integrity of the science she practices is unwavering. I am looking forward to her future scientific endeavours that most certainly will continue to move science in paediatrics and genetics forward for the good of her patients and our country.’

Words: MaryAnn Francis

Photograph: Supplied