Heart disease breakthrough
‘Greatest since Chris Barnard’s epic transplants’
IT’S BEEN described as the biggest breakthrough in South African cardiology since Dr Chris Barnard’s heart transplant almost 50 years ago, but the three women behind the discovery of the gene called CDH2 admit that making the new finding was not easy.
On Thursday, University of Cape Town researchers announced that, through global collaboration, they have finally pinned down the gene that is responsible for sudden death among young people and athletes. The CDH2 gene causes Arhythmogenic Right Ventricle Cardiomyopathy (ARVC), a genetic disorder that predisposes young people to cardiac arrest.
The discovery 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 – a 30-yearold PHD student Dr Maryam Fish, a 35-year-old Dr Sarah Kraus, and 43-year-old Dr Gasnat Shaboodien, deputy director of the Cardiovascular Genetics Unit at UCT, who supervised Fish along 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, says it was no walk in the park, the researchers often having to work long hours, sacrificing family time, and sometimes working throughout the night and at weekends.
Shaboodien, a married mother of three, said the hard graft had paid off in the end.
“We are excited because this scientific milestone holds great promise for other patients with this particular heart disease. What I take from this is that even though we are little fish in a big pond we are more than capable of holding our own… we make a difference in people’s lives, and that feels great,” she said.
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 a cutting-edge technology called whole exome sequencing (WES) to look for the genetic defect with 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 thoroughly investigated in a laboratory.
This is where the star of the project and finder of the gene, Fish, came into it. She started working 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 the heart disease. In the end she worked on the project for just over five years.
But she takes no credit alone for the discovery, saying it would not have been possible without the others.
“It was definitely a team effort. This work could not have been accomplished without the hard work of many UCT researchers, notably Professor Mayosi, Dr Shaboodien and Dr Kraus, as well as other members of the Hatter Institute for Cardiovascular Research in Africa.”