South Africa

RareMD is very honored to inform you that the ‘National Metabolomics Platform (NMP), hosted at North-West University’s Centre for Human Metabolomics and The Nngwe Project, led by Professor Chris Vorster and Associate Professor Ilse du Preez, PhD, have invited RareMD Inc. to partner with these highly reputable institutions. This collaboration marks an important step in our shared mission to support medical professionals and reduce the burden on patients living with undiagnosed rare diseases across South Africa.

Apply for Free Access to RareMDx-ZA

Our Partners

The Rare-DDx Access Program is made accessible through collaboration with the following leading institutions committed to improving outcomes for rare and undiagnosed patients in South Africa: North-West University (NWU), the Centre for Human Metabolomics (CHM), and The Nngwe Project. The Nngwe Project is an initiative of Diplomics (Distributed Platform in OMICS).

  • NWU
  • National Metabolomics Platform
  • The Nngwe Project

Partnership in South Africa

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. 

The Partnership offers

  • Free, unrestricted access to RareMDx for all medical professionals registered and practicing in South Africa.
  • Rare-disease–inclusive differential diagnostic (DDx) thinking for complex or atypical cases.
  • RareMDx enables clinicians to generate a case-specific Referral Report that include selected clinical features, biomarkers, the associated differential diagnosis (DDx), and space for additional longitudinal patient data. Clinicians can send the report directly to NMP to activate the national metabolomics workflow and accelerate diagnostic refinement. Before sharing, clinicians must save the report locally on their own devices, as RareMD is designed to not store these reports in compliance with Protection of Personal Information Act, POPIA in South Africa, HIPAA in the US and GDPR in EU.

Support for Patients, Parents, and Caregivers

Free Access to RareLook™

Many patients, parents, and caregivers turn to “Dr Google” when faced with an undiagnosed condition. To support them, RareMD offers RareLook™, a layperson-friendly version of RareMDx™.

RareLook™ provides structured, symptom-based insights that can be shared with treating physicians, who may then apply for free access to RareMDx™ to complement and expand diagnostic exploration.

A Shared Commitment to Earlier Identification and Diagnosis

We believe this partnership between NMP, Nngwe, and RareMD advances equity, access, and excellence in rare-disease diagnosis across South Africa. Such partnership can be replicated in other countries and regions in the near future.

Together, we are working to shorten the diagnostic odyssey and support clinicians, patients, parents and caregivers who have waited far too long for meaningful answers.