The North-West University's Centre for Human Metabolomics (CHM) is in the process of
establishing the first rare disease (RD) biobank in South Africa and Africa. The CHM …

The high burden of infectious diseases and the growing problem of noncommunicable and
metabolic disease syndromes in South Africa (SA) forces a more focused research approach …

Biobanks are organized collections of biospecimens and associated data from large number
of individuals for the purpose of health research. The number of biobanks has expanded in …

Rare diseases (RD) refer to a collection of approximately 5,000–8,000 individual diseases
that have a low prevalence and are often genetic in origin. While RD can manifest …

Access to biological materials is a key prerequisite for scientific research in any medical field
and in particular for research into rare diseases (RDs), for which obtaining high-quality …

The rich and diverse genomics of African populations is significantly underrepresented in
reference and in disease-associated databases. This renders interpreting the Next …

Background. Biobanks are highly organized infrastructures that allow the storage of human
biological specimens associated with donors' personal and clinical data. These …

The establishment of Human Heredity and Health in Africa (H3Africa. www. h3africa. org)
has catalyzed collaborative research across national boundaries, building on existing …

Abstract Background Rare diseases (RDs) are often neglected because they affect a small
percentage of the population (6–8%), which makes research and development of new …

Background Biorepositories archive and distribute well-characterized biospecimens for
research to support the development of medical diagnostics and therapeutics. Knowledge of …