Page 136 - SAMRC Annual Report 2023-24

Precision and Genomic
Medicine Research Unit

Unit director:
Prof. Raj Ramesar

Prioritising responsive research patients from the total colorectal cancer patient
through impactful interventions burden, and (ii) developing a technology based
on cell free (circulating) RNA/DNA to potentially
The objectives of the Precision and Genomic Medicine replace colonoscopies to identify neoplasm-linked
Research Unit were: (1) to expand our work into the biomarkers.
indigenous population of the Eastern Cape, notably
with regards to large scale psychiatric genomics Equitable capacity development
research of schizophrenia in that community. This is a
neglected community and stands to remain distal to for empowering communities
the advancements coming out of the major progresses Our capacity development initiatives in the unit
being achieved in first world populations that are are driven by a commitment to training and
being researched using this powerful technology. promoting equity in health research. The Human
We have established a research infrastructure with Genetics Division is focused on creating sustainable
colleagues in the Eastern Cape and have recruited capacity development programmes that align with
approximately 4000 cases and controls and we are our research translational goals. Our BSc Hons
busy doing Whole Exome Sequencing and Whole programme, which consists of four mandatory
Genome sequencing on these. (2) to improve the modules, including two on bioinformatics and data
diagnostics of inherited retinal diseases (IRDs), for analytics, alongside two electives and a laboratory-
which we are a national centre of excellence, by based research project is key. This programme
making a concerted effort to work in our indigenous serves as an entry point for students into our research
communities. (3) having worked on the genetics of projects and provides a pathway for our illustrious
hereditary colorectal cancers extensively amongst MSc and PhD studies. While we are inundated with
the rural communities of the Northern and Western applicants from historically advantaged institutions,
Cape Provinces, and shown the power of precision/ we have been successful in attracting postgraduate
personalised medicine to (a) identify the genetic students from underrepresented institutions and
basis of disease in affected patients, and (b) to keeping our student profile as diverse as the peoples
afford predictive genetic testing in their first degree of this country.
relatives, and presymptomatic clinical surveillance,
which has resulted in improved both morbidity and Another of our significant achievements is the
mortality, and (c) be a major cost saver (in a formal internationally recognised MSc programme in
cost-benefit health economics study. Genetic Counselling. This programme emerged
from our research into hereditary diseases,
Our ongoing work for 2023/2024 has focused on: (i) specifically Inherited Retinal Diseases and Familial
developing a regression scoring tool, (and turning Colorectal Cancer. These studies identified extensive
this into an app available on our mobile phones), familial lineages with high rates of these disorders,
to be used by the managing multidisciplinary emphasising the need for genetic counselling to
team to ascertain the familial colorectal cancer help affected families understand diagnostic and

134 SAMRC ANNUAL REPOR T 2023-24