Researchers from South Africa are leading the way in genetic research to find the answer as to why a small percentage of people living with Human immunodeficiency virus (HIV) are leading healthy lives without using antiretrovirals (ARVs).
Acquired immunodeficiency syndrome (AIDS) occurs at the most advanced stage of infection, targeting the body's white blood cells and weakening the immune system.
According to the latest survey by the Human Sciences Research Council, in 2022, there were approximately 7.8 million people living with HIV in South Africa, the highest number of people living with HIV globally.
Of particular interest in the global investigations into HIV is “elite controllers” (ECs), a rare group of HIV‐1‐positive individuals whose immune systems appear to suppress the infection from developing without taking antiretrovirals.
For every 200 people living with HIV, around one is an elite controller, which equates to 0.5% of those affected by the disease.
In South Africa, with its high rate of HIV infection, the prevalence of ECs also appears to be higher.
Despite having the largest genetic diversity in the world, African human genome sequences represent the lowest of all the human genomes that have been sequenced worldwide.
Dr Vernon Ramsuran, an associate professor at the University of KwaZulu-Natal (UKZN) is the principal investigator of the HIV Host Genome project, and a leading researcher in HIV human genetics.
His groundbreaking research on the role of Human Leukocyte Antigen (HLA) genes in HIV and tuberculosis (TB) disease, has garnered him numerous accolades.
His research is dedicated to understanding the genetic factors that influence the progression of HIV to AIDS and developing new treatment strategies.
Driven by the urgent need to address the HIV epidemic in South Africa, Dr Ramsuran's research focuses on identifying the human genes responsible for the progression to AIDS.
In order to identify the polymorphism and mutations within individuals of African descent, and understand how they are associated with HIV disease progression, Dr. Ramsuran started working with the South African Medical Research Council (SAMRC), and local South African clinics in 2019 to research EC to the next level using Whole Genome Sequencing (WGS).
“We've identified new genes and polymorphism that are playing a role with HIV disease through new data generated from Whole Genome Sequencing,” says Dr Ramsuran.
“Traditionally, there is a list of mutations or genes that are known to associate with HIV, yet they are largely based on studies on Caucasian populations. Our HIV research is adding to the general pool of knowledge pertaining to individuals of African descent, which will thereby inform new treatment and new vaccine opportunities.”
“What's important is also understanding how drugs interact with the individual,” added Ramsuran.
“We’ve found in the past that certain polymorphism is associated with drug metabolism in genes. Building on this understanding of drugs in combination with the genetics of the individual, we can develop prediction tools to inform clinicians on drug type or dosage depending on the presence of the polymorphism to facilitate a more rapid metabolism of the drug.”
The HIV Host Genome project was started at the same time as SAMRC launched the African Genomics Centre in Cape Town at a time when there was no real infrastructure for large-scale next generation sequencing in Africa.
The project tracks patients that have the ability to control the HIV virus to ascertain how the disease progresses.
In addition, they have included the families of HIV positive patients in order to help better understand the relationship between paediatric non-progressors and their parents who are also HIV positive, to uncover any genetic differences that may contribute to how the immune system controls HIV.
The study will involve 110,000 participants from South Africa, with the aim of understanding more about their genomic diversity, and pave the way for personalised medical solutions.
By unmasking the genetics of ECs through research, clues can be revealed, and new therapies potentially developed to benefit broader groups of people living with the disease.
The data collected will be incorporated into a national population database, enhancing research outcomes and giving researchers a deeper understanding of the disease for Africans.
IOL Lifestyle