Cape Town - It has been described as the biggest breakthrough in South African cardiology since Dr Chris Barnard’s heart transplant almost 50 years ago. But the “hidden figures” behind the discovery of the gene called CDH2, who are all women, admit that making the new finding was no child’s play.
On Thursday, UCT researchers announced that, through global collaboration, they had finally pinned down the gene responsible for sudden death among young people and athletes. The CDH2 gene causes Arrhythmogenic Right Ventricle Cardiomyopathy (ARVC), a genetic disorder that predisposes young people to cardiac arrest.
The discovery, which is the first in the world, is now expected to permit the diagnosis and possible targeted treatment of heart muscle disease in the future.
Behind the discovery are three young women - 30-year-old PhD student Dr Maryam Fish, 35-year-old Dr Sarah Kraus and 43-year-old Dr Gasnat Shaboodien, deputy director of the Cardiovascular Genetics Unit at UCT, who also supervised Fish with Professor Bongani Mayosi, Dean of Health Sciences at UCT.
Shaboodien, who has been part of the project since it started about 20 years ago, admits that it has been no walk in the park, with the researchers involved often having to work long hours, sacrificing family time, and sometimes working throughout the night and weekends.
Shaboodien, who is a mother of three children, said her family often spent time without her, but the research project had paid off in the end.
“We are excited because this scientific milestone is not only great news for the family, but it holds great promise for the other patients with this particular heart disease,” she said.
The gene called CDH2 responsible for sudden death among young people and athletes.
Fish, who worked with Shaboodien and Kraus to find the new gene, said the discovery was made through the study of two members of a South African family affected by ARVC. They used cutting-edge technology called whole exome sequencing (Wes) to look for the genetic defect of this family. Wes is a technique for the speedy sequencing of all the expressed genes in a genome. Instead of taking years to scan one gene, this technology allows scientists to screen genes in a matter of hours - a gene screening on steroids. As the technology was not readily available in South Africa, local researchers teamed up with researchers from Italy and Canada who scanned thousands of genes and gave local researchers a narrowed list that needed to be investigated thoroughly in a laboratory.
This is where the star of the project and the founder of the gene, Fish, came. She started working tirelessly on the project in 2011 as her main research subject, trying to find the final piece of the puzzle. She spent months trying to figure out how this gene, CDH2, played a role in the development of heart disease - a project she worked on for just over five years.
But she’s not taking credit for making the discovery alone - she says it would not have been possible for her to have found the gene on her own.
“This work could not have been accomplished without the hard work of many UCT researchers, notably Professor Mayosi, Dr Shaboodien, Dr Kraus as well as other members of the Hatter Institute for Cardiovascular Research in Africa. Many long hours were spent working on this project,” she said.
Kraus, who is a specialist physician and cardiomyopathy clinical research fellow at UCT, said she joined the project in 2014 as it was nearing its end.
“By the time I got involved, Gasnat (Shaboodien)and Maryam (Fish) had already dedicated much of themselves to the project and were at a dead end. I remember sitting down with the two of them one day and it became clear that we really needed to go back to the drawing board. I went back to the family and Maryam went back to the original exome data that was generated by Italians and Canadians.”
As the family being researched was not based in Cape Town, there were challenges in collecting data.
“Family screenings take commitment and patience. It requires time to develop a relationship with the family so that they feel comfortable participating.
“One has to take the time to address their fears and expectations in addition to collecting information.”