Biobank

The first of its kind on the African continent

The first Biobank for rare metabolic diseases on the African continent was established in 2019. The Biobank stores and provides access to biological samples and clinical data from patients with rare metabolic diseases, which will help researchers to develop new diagnostic tests and treatments for these conditions.

This Biobank for rare metabolic diseases is intended to be a national asset and has already attracted national and international interest – with several research projects already registered. The growing interest in the Biobank for rare metabolic diseases will continue to create more opportunities for students and healthcare innovators alike.

The operational structures of CHM/NMP are designed to establish new collaborations as is evident from our portfolio of both national and international conference contributions. Our goal is to provide a unique resource that will help facilitate important discoveries in the field of rare metabolic diseases.

We care about every rare disease patient that is part of our biobank family. We strive to connect each patients with support groups and actively search for clinicial trials or new treatments that may be of value. If you would like to support the Biobank, do not hesitate to contact us

The CHM Biobank can offer a range of valuable services that contribute to medical research, patient care, and the development of treatments. These include:

Sample Storage & Management

Sample usage

Participant recruitment

Educational Outreach

Ethical and Legal Guidance

Sample Storage & Management

The biobank securely stores and manages biological samples such as blood, tissue, and DNA from individuals with rare diseases. This ensures that the samples, and accompanying data, are preserved properly for future research and analysis.

Sample Usage

Scientists and researchers can access the biobank’s samples and data to conduct studies on rare diseases. This encourages collaboration and helps accelerate research by providing a central repository of valuable resources.

Participant Recruitment

The biobank can help identify potential participants for research and/or clinical trials and connect researchers with patients who are interested in participating in research studies.

Educational Outreach

The biobank can offer educational programs, workshops, and resources to raise awareness about rare diseases, genetics, and the importance of research.

Ethical and Legal Guidance

The biobank can provide guidance on ethical and legal considerations related to the collection, storage, and use of biological samples and data for research purposes.

accelRare® is a pre-diagnostic solution for rare diseases. accelRare® uses the medvir tool, certified as a Class I medical device, for which Medical Intelligence Service is the manufacturer and Sanofi the distributor.

Receive the Form with PDF Attachment

To obtain a copy of this form as PDF attachment for printing, please provide your email address below.

Provide clinical information

Clinical information may greatly assist in the interpretation of metabolic results and additional recommendations. The clinical information can be provided here

Print the test selection form from email and hand to the patient or phlebotomist for sample collection

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The National Metabolomics Platform is a specialized laboratory dedicated to diagnosing rare and inherited metabolic diseases. Located on the Potchefstroom campus of North-West University, the laboratory may occasionally require additional tests, including genetic testing, to confirm a diagnosis. If these tests incur additional costs, the laboratory will seek prior approval from you and/or your clinician. To ensure diagnostic accuracy, clinical information and other reports may also be requested. Such requests are made solely to enhance the precision of the diagnosis. Following a diagnosis, the laboratory may contact you about potential research projects for which you might be eligible. These projects aim to improve the understanding and characterization of rare diseases and offer patients opportunities to participate in international clinical trials. Participation in these projects is entirely voluntary, and there is no obligation to take part if contacted. All research is conducted under the oversight of the NWU Health Research Ethics Committee.

GCxGC-TOFMS Untargeted

Compound list

Spectra identified via comparison with library spectra

NMR Untargeted

Compound list

Spectra identified via comparison with library spectra

LDL Cholesterol Subfractions

Compound list

The LDL subfraction test measures up to twelve lipoprotein fractions and subfractions (VLDL, mid-bands A-C and LDL 1 through 7)

HDL Cholesterol Subfractions

Compound list

Separates and quantifies up to 10 HDL subfractions, classified from large buoyant HDL lipoproteins (HDL-L) to small-dense HDL lipoproteins (HDL-S).