​Stellenbosch University (SU) graduate Samantha Bayley celebrated with friends and family this week when she received her MSc degree in Genetics after completing her ground-breaking research to develop a diagnostic test for patients suffering from the rare disease of Hyperphosphatemia with Mental Retardation Syndrome (HPMRS).

She graduated during the virtual SU December graduation ceremony on Tuesday (15 December).

“I celebrated my degree with my loved ones who are proud of me and have supported me through all the challenges I have faced. I am also excited as graduation represents the beginning of the next chapter in my life," she said. HPMRS is a rare genetic condition of intellectual disability, developmental delay and distinct facial dimorphism, amongst others. These symptoms can be present at patients in different levels of severity. It is also referred to as the Mabry syndrome.

Her hard work and research in HPMRS culminated in the development of a diagnostic test approved by the National Health Laboratory Services. This test shortens the diagnostic odyssey that encompasses the time between the first symptoms of a rare disease being noted to the time when a final diagnosis is made.

“Shortening the time of diagnosis and providing answers to the patients and their families has motivated me and encouraged me throughout this research," said Bayley.

Bayley's research originally involved the diagnosis of a boy with this genetic disease. The research expanded until multiple children with the disease were diagnosed. Through these tests, Bayley has identified a novel pathogenic variant in ten patients with this syndrome and determined this rare variant to be a possible founder effect.

“I am truly grateful that I was able to be involved in this research as it had a real-life impact, which holds a lot of importance for me," she said.

Future plans

Bayley is an aspiring genetic counsellor, who is eager to help and support individuals through their genetic testing and diagnosis. “From a young age, I have always wanted to have a career that would allow me to help others."

Next year, she plans to study towards an MMedSc in Genetic Counselling at the University of Cape Town. “This degree, followed by an internship, will qualify me to practise as a genetic counsellor. I have been passionate about this career for many years, and I am excited about the next part of my journey," she said.

Her experiences and knowledge gained at SU will always form part of her life, said Bayley, describing her time at SU as a “well-rounded experience", filled with diligence, hard work and incredible friends with whom she could experience many adventures. “In my time at Stellenbosch University, I have had the opportunity to work with passionate and diligent supervisors and students, which has been a great motivator as they inspired me to work that much harder.

 “The past six years here have been some of the best years of my life and this graduation was a representation of that."