CHM Biobank – Advancing Rare Disease Research in South Africa

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CHM Biobank – Advancing Rare Disease Research in South Africa

The CHM Biobank at North-West University was Africa’s first biobank dedicated to rare diseases. Established in 2019 as part of the National Metabolomics Platform (NMP), it builds on work started in 1983 at the Potchefstroom Laboratory for Inborn Errors of Metabolism (PLIEM). It began with just three samples and today holds samples from more than 834 participants, making it a key contributor to rare disease research on the continent.

Its focus has always been on rare diseases, especially inborn errors of metabolism. The biobank collects blood, urine, and DNA samples, primarily from individuals affected by rare genetic disorders, with the majority of samples linked to inborn errors of metabolism. These samples support a wide range of research, including genetic testing, the development and optimisation of diagnostic methods, understanding disease patterns, and participation in genome studies such as Whole Exome and Whole Genome Sequencing.

What makes the CHM Biobank unique is that it’s the first of its kind in Africa focused on rare diseases. It holds broad consent for research and is working toward ISO 20387 accreditation. It also aims to become a training hub for biobank operations in Africa, sharing its expertise with others on the continent.

The biobank plays an important role in making advanced diagnostics more accessible. In collaboration with DIPLOMICS and the NMP, it supports a national study to bring genetic testing capabilities into South Africa. This reduces the need to send samples overseas and speeds up diagnosis for patients.

The CHM Biobank also stores the South African samples for the International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) study. It receives research requests from local and international researchers, including partners like the Mayo Clinic.

As part of the MBirSA network, the biobank benefits from shared expertise, improved infrastructure, and national visibility. This helps it to expand sample collection across all provinces, strengthen ethical and data standards, and increase its impact through new collaborations.

Future plans include more research on rare diseases, increased public awareness, and further support for international partnerships. With help from MBirSA, the CHM Biobank is growing its contribution to both local and global research — and helping to make sure African patients are part of the future of precision medicine.

MBirSA Membership

1. Introduction

This document sets out the governance framework for membership to the Medical Biorepositories of South Africa (MBirSA). It defines membership categories, eligibility criteria, the application process, rights and responsibilities, and terms of membership. This governance structure aims to ensure inclusive, equitable, and transparent participation in MBirSA’s activities, in alignment with its mission to support ethical, effective, and sustainable biorepositories in South Africa.

2. Categories of Membership

MBirSA offers four categories of membership:

  1. Biorepository membership
  2. Institutional membership
  3. Individual membership
  4. Associate members
  5. Observer status

2.1 Biorepository Membership

Biorepository membership is open to any biorepository operating within South Africa that supports and aligns with MBirSA’s principles and objectives.

Rights of membership

  • Eligibility to nominate representatives to MBirSA working groups and committees.
  • Opportunity to comment on and vote on any MBirSA consensus statements or other MBirSA policies developed.
  • Access to MBirSA resources, training, and capacity-building activities.

Responsibilities:

  • Commitment to MBirSA’s Code of Conduct
  • Timely payment of membership fees (if applicable).
  • Appointing a designated representative to engage with MBirSA on behalf of the biorepository.
  • To indicate their membership of MBirSA and inclusion of the MBirSA logo on the biorepository website.

2.2 Institutional Membership

Institutional membership is open to South African institutions (e.g., universities, research councils, hospitals) that oversee or house multiple biorepositories.

Becoming a member:

  • The institution applies as a single entity and designates a primary liaison.
  • All biorepositories under the institution’s auspices automatically fall under the membership.

Rights of membership:

  • Eligibility to nominate representatives to MBirSA working groups and committees.
  • Access to MBirSA resources, training, and capacity-building activities.

Responsibilities of membership:

  • Commitment to MBirSA’s Code of Conduct.
  • Timely payment of membership fees (if applicable).
  • Oversight of affiliated biorepositories’ compliance with MBirSA principles
  • Facilitation of internal coordination and communication with MBirSA.
  • To indicate their membership of MBirSA and inclusion of the MBirSA logo on the institution’s website.

2.3 Individual Membership

Individual membership is open to professionals, researchers, ethicists, policy experts, or community advocates with a demonstrated interest in medical biorepositories in South Africa.

Rights of membership:

  • Eligibility to nominate themselves to MBirSA working groups and committees.
  • Access to MBirSA resources, training, and capacity-building activities.

Responsibilities:

  • Commitment to MBirSA’s Code of Conduct.
  • Timely payment of membership fees (if applicable).

2.4 Associate Membership

Associate membership is open to individuals or institutions located outside South Africa who support the aims of MBirSA and wish to collaborate or contribute to its work.

Rights of membership:

  • Eligibility to nominate themselves to MBirSA working groups and committees.
  • Access to MBirSA resources, training, and capacity-building activities.

Responsibilities:

  • Commitment to MBirSA’s Code of Conduct.
  • Timely payment of membership fees (if applicable).
  • To indicate their membership of MBirSA and inclusion of the MBirSA logo on the website.

2.5 Observer status

A biorepository and/or institution that may be considering membership, can join as an observer for one year only.

Rights of observer status:

  • Access to MBirSA resources, training, and capacity-building activities.

Responsibilities:

  • Commitment to MBirSA’s Code of Conduct.
  • Timely payment of observer status membership fees (if applicable).
  • To indicate their membership of MBirSA and inclusion of the MBirSA logo on the website.

3. Application and Admission Process

  1. Applicants must complete the official MBirSA membership application form and submit any supporting documentation as required.
  2. All applications are reviewed by the MBirSA Steering Committee for decision.
  3. Successful applicants will receive formal notification and a welcome package, including the MBirSA Constitution and any applicable membership fees.

4. Duration and Renewal of Membership

Membership remains valid until such time as either the member or MBirSA chooses to terminate it, subject to continued eligibility, active engagement, and payment of membership fees (if applicable).

5. Termination or Suspension of Membership

Membership may be suspended or terminated if:

  • The member is found to be in serious breach of MBirSA’s Constitution or Code of Conduct by the Steering Committee.
  • The biorepository or institution is no longer operational.
  • The member voluntarily withdraws from MBirSA in writing.

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