Programme Committee

Kelly Du Plessis

Kelly du Plessis is wife and mother of two children (aged 12 and 13) and the CEO and founder of Rare Diseases South Africa, a registered NPO. Rare Diseases SA was born out of necessity when her oldest child, Juan, was diagnosed with Pompe disease at 11 months old. Pompe disease is a rare, neuromuscular disorder which is fatal if left untreated. At the time, treatment for this rare condition was not available in South Africa, and so Kelly’s personal journey of patient advocacy started.

Having dedicated her life and career to furthering the plight of those impacted by rare diseases in developing countries, Kelly serves on various boards and committees which focus on improving the quality of life for rare patients.

In eight years, Kelly has taken Rare Disease policy and patient advocacy to new heights in South Africa and has presented at various national and international conferences to raise awareness and create a new narrative in terms of treatment and access for rare patients. Understanding the isolation and lack of support surrounding a rare disease diagnosis, providing a safe place for patients as well as families, and improving patient-centred care has become her passion. There are over 6500 patients and families impacted by rare diseases, and Kelly has assisted these individuals and ensured that patients’ voices are not forgotten.

Kelly was awarded the African Leadership Award for healthcare (Dec 2016 – Mauritius) with other recent achievements including the winner of the Best Patient-Led Health Advocacy group by Healthcare and Pharmaceutical Awards, the successful launch of RareX (the first Rare Disease conference in Africa), founding Africa-Rare.org (an African alliance for Rare Diseases), as well as the implementation of International Rare Disease Day in South Africa (The public awareness campaign reached over 17 million South African’s in 2014).

Dr Helen Malherbe

Helen became part of the rare disease community in 2004 when she lost her first child, Madeleine, to Trisomy 18 (Edwards Syndrome), and soon after established a contact point for families in South Africa affected by the condition. As a result of her personal experience and keen to make a difference, Helen completed a PhD at the University of KwaZulu Natal (UKZN) in 2017 investigating the renewed need for the care and prevention of congenital disorders in South Africa. She continued her research work as a post-doctoral fellow for four years at UKZN and a year at the University of Pretoria, and in January 2023 was appointed as Extraordinary Associate Professor at the Center for Metabolomics, North-West University. Simultaneous to her research work, Helen has been continually involved as a patient advocate, initially leading Genetic Alliance South Africa NPO (2014-2019) and as a Director of Rare Diseases South Africa (RDSA) since April 2019, overseeing Research and Epidemiology.

Dr Tumelo M Satekge

Dr Tumelo M Satekge is a medical practitioner and completed his MBChB degree at the University of Witwatersrand and qualified as a Chemical Pathologist through the College of Medicine of South Africa. His MMed was obtained through the University of Pretoria, focused on the selective screening of classical galactosaemia at the NHLS, Steve Biko Academic Hospital. He has a special research interest in paediatric laboratory medicine with an emphasis on rare diseases, particularly inborn errors of metabolism and medical genetics. Dr Satekge has presented at numerous international congresses and published papers on various aspects of rare diseases. He is at the forefront in the provision of paediatric laboratory services focused on rare diseases in the Limpopo Province.

Ms Malebo Malope

Malebo is a registered genetic counsellor and is currently employed at Stellenbosch University as a lecturer. She is responsible for coordinating the teaching activities for the Clinical Genetics and Genetic Counselling Unit within the Division of Molecular Biology and Human Genetics. Malebo provides clinical genetic counselling and training and has a special interest in making genetic counselling accessible and diversity and inclusion within the field of human genetics and genomics. Malebo is currently a member of the Southern African Society of Human Genetics (SASHG) and Genetic Counsellors South Africa (GC-SA) executive committees.

Prof Colleen Aldous

Prof Colleen Aldous is a Professor of Clinical Research at the University of KwaZulu-Natal's School of Clinical Medicine. Her specific area of research focuses on all aspects of genetics, including rare diseases. With a contribution of over 170 scholarly articles, her extensive research has spanned various facets of medical science.

Her background in diverse research techniques and her communicative abilities showcases her collaborative spirit in interdisciplinary studies. As a dedicated mentor, she has supervised several postgraduate research projects, ensuring the next generation of scientists is well-prepared and guided.

Professor Aldous has presented at numerous local and international conferences, often as a keynote or invited speaker. A fervent advocate for personalized medicine, her interests delve deep into epidemiology, doctoral studies, and pharmacogenomics. With an unwavering mission, she believes in the profound impact of research on patients, echoing her philosophy: "My health care research must effect meaningful change for patients, their families, and the health care professionals serving them."

Dr George Rebello

George Trained as a Cytogeneticist in the then South African Institute of Medical Research (SAIMR) in Hillbrow.  He worked in Diagnostic Cytogenetics in Johannesburg and then moved to St Mary’s Hospital, London where he completed his MPhil In Human Genetics on Early Amniocentesis.  His PhD was gained from University College London and was on the mapping of a small part of the short arm of Chromosome 9 as part of the Human Genome Project.  George has worked in Molecular Genetics at UCT since 1997.  His interests include Bioinformatics, Databases, Inherited Retinal Diseases, Cancer, and Pharmacogenomics.   

George has a particular interest in precision medicine and believes we are on the cusp of a paradigm shift in medicine to realise the promises of personalised medicine. 

George is the current chairman of the Southern Africa Society of Human Genetics and is a member of Clinical Pharmacogenetics Implementation Consortium (CPIC) and the African Pharmacogenomics Network (APN).