While cardiovascular disease and Type 2 diabetes surge in South Africa, the genetic underpinnings of these conditions within the country’s diverse populations remain largely unexplored. Professor Alisa Phulukdaree’s groundbreaking work at the University of Pretoria is changing that!
Pretoria, South Africa (25 February 2025) – Many of us may know a loved one affected by Cardiovascular disease and Type 2 diabetes. These two health challenges have become two of South Africa’s most pressing and prevalent ones. Yet, much of the global research that informs treatment and prevention strategies has been conducted in populations that don’t reflect our genetic diversity.
This is according to the University of Pretoria’s (UP), Professor Alisa Phulukdaree from the Department of Physiology who shed light on the genetic and epigenetic factors influencing these diseases, particularly focusing on their impact in South Africa.
Her work not only explores why some population groups are more vulnerable to these conditions but also points to the potential for personalised medicine, an approach that could allow people to make informed health choices based on their genetic predisposition.
“We know that heart disease and diabetes are on the rise in South Africa, but the genetic factors driving these conditions in our population remain largely understudied,” says Prof Phulukdaree.
“By uncovering how genetic and environmental factors interact, we can develop more precise strategies for prevention, early detection and treatment.”
The hidden genetic triggers of disease
In recent decades heart disease has become one of the leading causes of death in South Africa. Similarly, Type 2 diabetes, often linked to lifestyle factors, is rising sharply.
But what if the risk is written into one’s DNA? This is a key question posed by Prof Phulukdaree’s research which delves into how genetic variations and environmental factors interact to influence the development of coronary artery disease (CAD) and diabetes.
She studies genetic markers that regulate oxidative stress, inflammation and blood clotting – all of which contribute to the progression of these conditions.
Her findings are particularly relevant to South Africa’s Indian population, who experience significantly higher rates of CAD.
However, this trend extends beyond South Africa – Indian populations in countries like Canada, England and Singapore also show disproportionately high rates of heart disease, underscoring the need for genetic research that accurately reflects their unique risk factors.
“We’ve seen that genetic predisposition plays a role, but the real challenge is that the majority of genetic studies have been conducted in European populations. This means we’re applying solutions that might not be as effective for African and South Asian populations,” Prof Phulukdaree explains.
Why existing research doesn’t always apply to South Africa
Most of what we know about the genetic basis of diseases comes from research conducted in developed countries.
This means that many of the genetic insights driving global healthcare may not accurately reflect the needs of
diverse populations, including those in South Africa.
Prof Phulukdaree’s research aims to close this gap by investigating how genetic and epigenetic changes influence disease progression in South Africans. Epigenetics, which refers to changes in gene expression caused by environmental and lifestyle factors, could provide insights into why some individuals develop severe disease while others don’t.
Her research team has studied specific genetic markers that affect how the body responds to stress and
inflammation.
One key factor is oxidative stress, a process where unstable molecules called free radicals damage cells, contributing to the hardening of arteries. Some people carry genetic variations that make them less efficient at managing this process, putting them at higher risk of heart disease.
Another focus is blood clotting, particularly the role of Factor XIII-A, a protein that stabilises blood clots. Individuals with certain genetic variations may form clots that are denser and harder to break down, increasing their risk of heart attacks and strokes.
“These conditions don’t develop overnight,” Prof Phulukdaree explains.
“They’re the result of a long interplay between genetics, lifestyle and environmental exposures.
What this means for prevention and treatment
The ultimate goal of this research is to move towards precision medicine; healthcare that is tailored to an
individual’s genetic makeup. By identifying high-risk individuals before symptoms appear, interventions can be more targeted, whether through lifestyle changes, medication, or personalised treatment plans.
“We need data from diverse South African populations to develop effective public health strategies,” says Prof
Phulukdaree.“If we can understand the genetic differences in how diseases progress, we can design more
effective screening tools and treatments that actually work for our population.”
To this end, she is working towards establishing a comprehensive genetic database that includes individuals from
different ethnic backgrounds.
This will not only improve disease prediction and prevention but also provide insights into the historical and socio-economic factors that shape health outcomes in the country.
Sources: University of Pretoria
Don’t ever miss the Good Things. Download the Good Things Guy App now on Apple or Google.
Do you have something to add to this story? Please share it in the comments or follow GoodThingsGuy on Facebook & Twitter to keep up to date with good news as it happens, or share your good news with us by clicking here or click the link below to listen to the Good Things Guy Podcast with Brent Lindeque – South Africa’s very own Good Things Guy. He’s on a mission to change what the world pays attention to, and he truly believes there’s good news around us. In the Good Things Guy podcast, you’ll meet these everyday heroes & hear their incredible stories:
Or watch an episode of Good Things TV below, a show created to offer South Africans balance in a world with what feels like constant bad news. We’re here to remind you that there are still so many good things happening in South Africa & we’ll leave you feeling a little more proudly South African.
by 