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National Science and Technology Forum (NSTF)

Prof Michèle Ramsay

For her pioneering genomic medicine approaches in Africa and leading the transcontinental study on factors that contribute to African diseases.

The 2019/2020 NSTF-South32 for Lifetime Award was won by Prof Michèle Ramsay, Professor: Human Genetics; Director: Sidney Brenner Institute of Molecular Bioscience; and Chair: DSI/NRF SARChI: Bioinformatics and Genomics of African Populations, University of the Witwatersrand. She received this award for her pioneering genomic medicine approaches in Africa and leading the transcontinental study on factors that contribute to African diseases.

Precision medicine can be understood as working out the best approach to prevent or treat disease based on a person’s genetics, environment and lifestyle.

“It’s a bit of a buzzword in the health sciences; however, few consider what precision medicine means in an African context,” says Professor Michèle Ramsay. “Will our diverse African populations fully benefit from medical advances made in populations of European origin?”.

The distinguished and highly awarded Ramsay is Director of the Sydney Brenner Institute for Molecular Bioscience (SBIMB), Professor of Human Genetics, and the Department of Science and Innovation and National Research Foundation’s South African Research Chairs Initiative (SARChI) Chair in Bioinformatics and Genomics of African Populations. All these are based at the University of the Witwatersrand (Wits). Added to this, she is also President of the International Federation of Human Genetics Societies.

Leading a transcontinental genomics project

Ramsay has a deep understanding of the field of human genetics and how this knowledge can be applied in a South African and African context. This can be seen in a transcontinental genomics project that Ramsay leads. The aim is to uncover the genetic and environmental factors that contribute towards obesity, hypertension, diabetes and kidney disease in Africans.

“This project will provide prevalence data and inform prevention and treatment approaches to improve the lives of affected people in Africa,” explains Ramsay. Here the definition of an African refers to genetically indigenous people — race is defined as a biological construct.

The genomic project is called AWI-Gen (Africa Wits-INDEPTH Partnership for Genomic Research). Research is conducted across four African countries: South Africa, Ghana, Burkina Faso and Kenya. It’s the largest African cohort that includes genomic data among other information (such as health, education, behaviour and socioeconomic circumstances).

The project falls under the Human Heredity and Health in Africa (H3Africa) Consortium, which is funded by the US National Institutes of Health and UK Wellcome Trust.

Findings continue to reveal unique genetic associations with common diseases that are exacerbated by lifestyle changes. “This work lays a foundation from which to understand the potential implementation of precision medicine and precision public health approaches in African populations,” says Ramsay.

The professor notes that “African genetic diversity in a global context” is the single most important research topic in human genetics today: “Genomic variation underlies susceptibility to disease, including non-communicable diseases and host susceptibility to infections.” However, African populations remain under-represented in large global genomic databases.

H3Africa began in 2012 with the aim of developing genomic research, and that includes capacity development for the field. “It’s a big group now, about 500 members,” says Ramsay. “We share research and collaborate, and there is a lot of mentoring and training.”

The breadth of this project, including the collaborators and international associations, shows the level of influence and significance accorded to Ramsay. She is considered a pioneer in the field of human molecular genetics in South Africa and Africa. Ramsay’s work has spanned three decades, developing alongside the extraordinary growth of human genetics and molecular technologies over this period.

Creating novel diagnostic tests

While doing her PhD, Ramsay set up a genetic diagnostic laboratory at the South African Institute for Medical Research (SAIMR) in the early 1980s. In 2001, the SAIMR merged with other entities to become the National Health Laboratory Services, a national government institution.

In line with this, she developed the first prenatal diagnosis tests using DNA technology in 1985. These enabled families to make important reproductive choices. With her students and collaboration partners, Ramsay continued creating diagnostic DNA-based tests.

 

Her research has led to the discovery of several disease-causing genes and mutations in South African families. These included thalassaemia, sickle cell anaemia, muscular dystrophies, albinism and several skin and eye diseases. This work has enabled genetic testing and counselling of affected families.

The Human Genome Project

In the late 1990s, Ramsay was part of the international Human Genome Project, a worldwide project to sequence the first human genome. While doing a postdoctorate degree in London, she was invited to chair a committee on the Y chromosome. The whole human genome sequence was published in 2003.

In 2010, Ramsay jointly led the Southern African Human Genome Programme. Her responsibilities ranged from co-ordinating community engagement to sample collection, data generation and finally publication in Nature Communications in 2017. Since then she has continued to build capabilities for large genomics projects in Africa.

Finding the knowledge gaps is a speciality of hers. In 2001, she partnered with a computer scientist to develop the discipline of bioinformatics at Wits. Ramsay was also a member of the development team and steering committee of the South African National Bioinformatics Network from 2003 to 2009.

Debates on gene editing

Human germline genome editing describes a process that makes the change in the DNA heritable. Germline editing for reproductive purposes is illegal in countries with legislation on the topic, but many legal systems are silent about this new technology. However, since 2015 scientists in China have been using the gene editing technique CRISPR/Cas9 on non-viable embryos. Then, in November 2018, a Chinese researcher announced that he had created the first human genetically edited babies.

This sparked international debate around the science, concerning its safety, accuracy and ethical implications. It was the driver behind two international commissions with the goal of developing guidelines on human gene editing. Ramsay serves on one of these: the International Commission for the Clinical Use of Human Germline Genome Editing.

Sydney Brenner Institute for Molecular Bioscience

In early 2000s, Ramsay was part of the team that conceived of SBIMB, which is now based at Wits. She became the founding director and still holds this position.

The SBIMB has grown in reputation and is now a preferred institution for the study of genomics in Africa. The broad research focus areas are around understanding African population genetics and the molecular basis of human disease to gain a better understanding of health and susceptibility to disease in sub-Saharan Africa.

A major focus of Ramsay’s current research programme is understanding the way in which genomic variation can be mined to get a better understanding of the early demographic history in Africa. This type of work can lead to hypotheses on when humans were exposed to specific infectious diseases, and how this led to selection for existing genetic variants that provided some protection to the diseases. Malaria is a good example; people who carry a mutation for sickle cell anaemia are much less likely to get malaria, so the frequency of this mutation goes up in areas with a high malaria infection rate.

The work of Ramsay and her team is also contributing to using genetic data toward reimagining our history over the past 5 000 years in sub-Saharan Africa. Papers have already been published in the prestigious scientific journals Nature, Nature Communications and Nature Reviews Genetics.

SBIMB has other active research programmes including cancer genomics, bioinformatics, pharmacogenomics and the previously-mentioned AWI-Gen. There is also a biobank, operated according to international good practices and that stores over 20 000 DNA samples. Another important research resource is the large genome database, much of it from African populations.

Beyond her pioneering work, Ramsay has a significant academic publishing record and continues to be a strong voice concerning the need for ethical and fair resource sharing — both DNA samples and data — with the aim of maximising their value. — Debbi Schultz

To read the full Mail & Guardian supplement of articles about the work of all the 2020 Award Winners, click here.

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