New strategies identify important genetic indicators of ACL rupture susceptibility

Professor Alison V. September is a distinguished academic with nearly 25 years of experience in Human Biology. Trained as a geneticist, she earned her PhD in Human Genetics from the University of Cape Town in 2003. Her research contributions are widely recognized, with an impressive h-index of 32 on Google Scholar and over 4,277 citations to date. She is regarded as an international leader in her field, evidenced by her B2 rating from the South African National Research Foundation, being a member of ASSAf, invitations to present at international conferences, several invitations as a visiting professor, an honorary professorship at the University of Stirling, Scotland, and her fellowship with the European College for Sports Science (FECSS). Additionally, she co-leads the GenOmics of soft tissue INjuries (GOINg) consortium, further solidifying her influence in the research community at a global level. Professor September’s research primarily focuses on the aetiology of musculoskeletal injuries, a significant health concern worldwide. These injuries are prevalent across all populations, with their incidence expected to rise due to aging physically inactive populations and the increasing prevalence of non-communicable diseases such as diabetes, cardiovascular disease, and cancer. In South Africa, musculoskeletal injuries are among the top 20 causes of disease burden. Despite the critical importance of physical activity for health and wellness, soft tissue injuries remain common, whether from leisure activities, daily life, or workplace incidents. The causes of musculoskeletal soft tissue injuries are not fully understood, though both intrinsic and extrinsic factors are implicated. An individual’s genetic profile is recognized as a significant risk factor. Professor September has applied her expertise in molecular genetics to advance our understanding of the genetic underpinnings of common injuries, including anterior cruciate ligament (ACL) ruptures, Achilles tendon injuries, and more recently, shoulder injuries in breast cancer survivors. Her groundbreaking work includes 93 publications, with several notable firsts in the field, such as the application of whole exome and whole genome sequencing in these injuries and the development of a biomedical knowledge graph for tendon and ligament injuries. One of her recent papers, Feldmann (2022b), represents the first large-scale study examining the genes within the angiogenesis pathway and their association with ACL injury risk, using samples from South Africa, Sweden, Poland, and Australia. Her research has also identified key functional loci within the pro-inflammatory pathway, offering new insights into the susceptibility to these injuries and paving the way for further exploration of the functional mechanisms at these loci. Professor September’s research is not only at the forefront of global scientific inquiry but also plays a crucial role in training the next generation of researchers in bioinformatics and genomics. Her commitment to scholarship extends beyond her research. At the University of Cape Town (UCT) and other African universities, she is dedicated to mentoring students, supervising over 48 postgraduate students to date, including doctoral and postdoctoral fellows. Her mentorship and leadership have fostered numerous international exchange programs, enabling South African students and research fellows to collaborate with global partners. Notably, she leads a collaborative effort between UCT and several other South African universities, including Fort Hare, Walter Sisulu, and Sefako Makgatho, through the UK-SA DHET Doctoral Training Programme. Her dedication to nurturing future leaders in the field is further reflected in her active engagement in scholarship at various educational levels, from graduate studies to school and community outreach, as highlighted in the SA-MRC news.