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Distinguished Research Professor Collen Masimirembwa in the Sydney Brenner Institute for Molecular Bioscience to receive award for research in pharmacogenomics.

Pharmacogenomics (also known as pharmacogenetics) is the study of how our genes affect the way we respond to medications.

The PMWC Pioneer Award recognises Masimirembwa's contributions to pharmacogenomics, in understanding genetic factors affecting drug response in diverse populations.

Masimirembwa is a pioneer and champion of pharmacogenomics research in Africa, according to the PMWC. He was born in Zimbabwe and studied at the University of Zimbabwe and the Karolinska Institute in Sweden, where he focused on drug metabolism and pharmacokinetics [the study of processes such as absorption, distribution, metabolism, and excretion of a drug].

He worked at AstraZeneca in Sweden before founding the African Institute of Biomedical Science and Technology, in Zimbabwe.

His achievements include establishing the African Pharmaco-genomics Research Network, under which he is conducting the first multinational study on the implementation of pharmacogenomics-guided treatment in Africa.

His work, which includes over 130 peer-reviewed papers, focuses on understanding the genomic diversity of African populations which is significantly impacting global health, particularly in enhancing drug efficacy and safety.

Understanding side effects of HIV drugs on Africans

In his research, Masimirembwa showed that side effects of the HIV drug Efavirenz (EFV), which include rashes, depression, and even suicidal tendencies, are more commonly observed in African patients on a standard dose of 600mg/day.

Many people in Zimbabwe and Botswana also have a gene variant that increases the metabolism of EFV and renders the standard dose toxic when it is administered.

Following this discovery, lower doses led to increased compliance and better viral control. In Botswana, too, genomic studies showed that about 13.5% of the population would be unable to effectively utilise EFV-based therapies, leading to a change in the country’s HIV management policy in favour of dolutegravir.

Masimirembwa is currently also working on similar studies to look at the effects in African populations of the breast cancer drug Tamoxifen as well as certain tuberculosis and malaria drugs. Ramsay hopes that the practical application of some of this research could be as close as two or three years away.

Masimirembwa’s contributions have also earned him the Bill & Melinda Gates Foundation Calestous Juma Science Leadership and the African Academy of Sciences fellowships, as well as South Africa’s National Research Foundation’s 2022 Science Team award, along with colleagues in the Sydney Brenner Institute for Molecular Bioscience (SBIMB) Professors Michèle Ramsay, Chris Mathew, Scott Hazelhurst, and Dr Ananyo Choudhury.

Precision medicine and pharmacogenomics for African diversity

According to the National Institutes of Health (NIH) National Library in Medicine, precision medicine focuses on identifying which approaches will be effective for which patients based on genetic, environmental, and lifestyle factors.

Pharmacogenomics (or pharmacogenetics) is a part of precision medicine. Precision medicine focuses on identifying which approaches will be effective for which patients based on genetic, environmental, and lifestyle factors.

The relatively new field of pharmacogenomics combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that are tailored to variations in a person’s genes.

Sydney Brenner Institute for Molecular Bioscience focuses on sub-Saharan African populations

Advances in genetics research make precision medicine a very real possibility – which is why it’s a research focus of the SBIMB, which is currently investigating some of the biggest and most compelling questions in modern science, with the aim of contributing to one or more of the following research goals, with a focus on sub-Saharan African populations:

  • Uncovering African genomic diversity
  • Delineating the molecular epidemiology and evolutionary biology of diseases
  • Understanding disease by studying the life-course of individuals
  • Discovering the molecular basis of host defence mechanisms

Professor Michèle Ramsay, Director of the SBIMB, says: “At the moment, the most broadly effective drug for any given condition is usually prescribed to most patients. So, if there are five drugs available for a condition, doctors prescribe the one that usually works for the majority. But people are very different – some will respond well, others will see little effect, and others could suffer serious side effects.”

Pharmacogenomics aims to take the guesswork out of prescribing medicine “for the majority”, by looking at genetic variants that determine how a person will metabolise and respond to a drug.

This is especially important locally, adds Ramsay. “We need more data to apply precision medicine in African populations. There’s a lot of data available on European and Asian populations, but these studies wouldn’t necessarily be relevant in an African context.”

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