New Developments

The North-West University’s (NWU) Centre for Human Metabolomics (CHM) in Potchefstroom is proud to announce the launch of a rare diseases biobank, focusing on collecting information and samples for rare birth defects, including inborn errors of metabolism (IEM). Many of these disorders are extremely rare and collecting samples may take a long period of time.

The CHM Biobank will be the first rare inborn disease biobank in South Africa and Africa. Furthermore, the complex genetic variability of the African population in general, as well as that most participants have not received any treatment for their disease, provides added value to the rare disease biobank for researchers at a global level.

Mission statement of the CHM Biobank
The mission of the CHM Biobank is to provide quality analytical, research and consultancy service in order to promote the understanding of congenital anomalies and to protect the personal information of individuals and communities, uphold transparency, promote communication, promote respect and accountability throughout all research studies generated from the use of the CHM Biobank. The management and staff of CHM undertake to ensure that all ethical guidelines and principles set forth by the WMA, NHREC, HREC, national and international standards/legislation pertaining to the governance of a biobank and health research be adhered to, as well as institutional requirements (HREC_SOP_Ethics_1.9).

Vision and goals of the CHM Biobank
The vision of the CHM Biobank is to be the first rare inborn disease biobank in South Africa and Africa, and one of the first globally to focus exclusively on rare inborn diseases; to foster a quality relationship with every person who consents to donate specimens in this initiative; to obtain ISO 20387 accreditation and to become the first biobank operational training centre in the country and the continent.

The goals of the CHM biobank is to provide protected samples and information that will help researchers to:

  • Improve what is known about these diseases
  • Develop quicker, faster and cheaper diagnostic methods
  • Better understand how these (and other) diseases work
  • Develop potential treatments
  • Provide a national and international reference resource for studies on rare IEMs

The CHM Biobank has been approved and registered by the NWU-HREC ethics committee of the Faculty of Health Sciences (approved ethics number: NWU-BB001-19-A1). Phase 1 and 2 of the project is currently underway, focussing on infrastructure procurement and participant recruitment in 2019-2020. The use of the biobank’s resources for research is expected to start early in 2020 and construction of state of the art infrastructure is expected to begin by the end of 2020. The biobank should be fully operational by the end of 2021 at the latest.

For more details please contact Dr Elne Conradie,

Funding for research in metabolic disorders is limited in Africa due to primary focus on infectious diseases. Consequently, limited options for diagnosis of and research in rare metabolic disorders are available. Several studies have proven an increased prevalence in lysosomal storage diseases (LSDs) and the same trend is observed in South Africa. Increased awareness, specialized biochemical testing and advances in therapeutic intervention of LSDs, led to efficient diagnosis and monitoring of these diseases in most 1st world countries. Therapeutic options have now become available to patients in 3rd world countries such as South Africa, demanding efficient diagnosis and continuous monitoring of patients with LSDs.

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