For decades, South Africa has demonstrated exceptional clinical leadership in rare-disease care through pioneers in the field of lysosomal storage disorders, including Dr Louisa Bhengu, Dr Trevor Gerntholtz, Dr. Jack Goldblatt, Dr Kenny (K.) Govendrageloo, Dr René Heitner †, Dr Bertram Henderson, Dr Alison Krause, Dr Lawrence Mubaiwa, Dr Paul du Toit, Dr Sheeba Varughese and others.
This legacy has been further strengthened by leaders such as Helen Malherbe, MSc, PhD, whose contributions to rare-disease epidemiology, policy frameworks, and patient advocacy have shaped South Africa’s national landscape since the early 2000s.
In parallel, Ms Kelly du Plessis has played a vital role for more than a decade in advancing patient support, public awareness, and public-policy engagement for rare diseases across the country.
RareMD’s founder met with some of the clinical experts for the first time in 1992 during the 1st International Gaucher Symposium in Amsterdam where Genzyme introduced the first FDA approved enzyme replacement therapy for Gaucher disease.