It is difficult to imagine a more devastating misfortune than that experienced by Kathleen Folbigg. The Australian mother lost her four children, who died one by one before reaching the age of eighteen months. She subsequently spent twenty years in prison, convicted of a crime she did not commit. When she was finally exonerated, Folbigg publicly acknowledged the role of science — and, in particular, the contribution of Carola Vinuesa from the Francis Crick Institute in London, who visited GIMM to teach doctoral students and to present this extraordinary case in a seminar.

Carola Vinuesa’s visit formed part of GIMM’s doctoral training programme, yet it also became a broader reflection on the social impact of scientific research. Beyond technical findings, her presentation illustrated how fundamental genetic research can intersect with medicine, ethics, and the legal system, with direct consequences for an individual’s life.

It was by chance that Carola got involved in this case.  Approached by a former student at her lab, presently a lawyer, that was convinced there was a genetic cause for the children´s deaths. “He had struggled to find anyone interested to help. From a research perspective, I thought I could help”, she told

 “We discovered a novel genetic variant in the gene COM2 that encodes for a protein called calmodulin that regulates the heartbeat. And we were able to show that this particular mutation caused arrhythmia, irregular heartbeat, that was likely the cause of the death of the daughters. And eventually this led to Kathleen’s exoneration in 2023.”

This previously unknown genetic variant provided a biologically plausible explanation for the children’s deaths, undermining the hypothesis of homicide that had sustained Folbigg’s conviction for two decades.

From basic research to a forensic breakthrough

Vinuesa did not initially set out to work on a forensic case. Her research group had been developing methodologies to identify rare genetic variants associated with immune disorders in children.

“We had been establishing a pipeline to identify rare genetic variants that could explain immune diseases in children so that we could understand mechanisms. And with that, we had the tools to discover potential variants that could be important.”

The investigation that followed was neither quick nor straightforward. It involved extensive experimental work, peer review, expert testimony, and participation in multiple legal hearings.

“When I started working in this case, I never expected it was going to turn into a five-year long journey to legal inquiries, hearings, many reports. It was a hard time. It was challenging. We met quite a lot of problems and obstacles, but it’s also been enormously rewarding, I think, as a scientist, to be able to do something that changes, even if it’s one person’s life.”

Engagement with GIMM doctoral students

Beyond the seminar, Vinuesa’s visit included direct interaction with GIMM’s doctoral cohort, which she considers a crucial aspect of scientific training.

“The invitation originally was to participate in these students training course of a PhD. I think it’s a very important part in the career of a student. So I like doing those things. I like to chat with students.”

She was particularly impressed by the level of engagement and maturity of the students:

“It was a wonderful talk. I think you’ve got actually a very, very talented cohort of students and quite mature as well. So we’ve had a wonderful 2 hours of conversations.”