The second inquiry into the convictions of Kathleen Folbigg, who is serving a 30-year sentence in New South Wales for the murders of her children Patrick, Sarah and Laura, and manslaughter of son Caleb, between 1989 and 1999, resumes in Sydney on Monday.
Folbigg was jailed in 2003. Her non-parole period is scheduled to end in 2028.
The inquiry, which began in November last year, has been reviewing new research into a gene variant called CALM2 G114R, which might have caused Sarah and Laura’s deaths. Tests on their DNA samples showed this mutation was inherited by the girls from their mother.
The inquiry is being led by the state’s former Supreme Court Chief Justice, Tom Bathurst KC.
Witness lists for this three-week block of proceedings show the inquiry will hear from leading Australian and international scientists who will provide their perspectives on previous evidence and recent studies into G114R. Other experts in the fields of psychology, neurology and forensic pathology are listed to appear in the second hearing block.
Folbigg has always maintained her innocence, although the NSW Court of Appeal and the High Court rejected applications to examine elements of the case. There are now two inquiries into her convictions.
The first, completed in 2019, heard from genetics experts who decoded the children’s DNA and discovered they had several gene variations. Among them was the G114R variant, which impacts heartbeat regulation.
More: Timeline of genetic research
But after hearing that and other aspects of the case, former NSW District Court Chief Justice Reginald Blanch KC concluded “somebody intentionally caused harm to the children” and that Folbigg was the only person who could have done so. She remained in jail.
One of the genetics teams, collaborating internationally, then analysed the G114R variant in greater detail. They concluded it might cause spontaneous death, which convinced the Australian Academy of Science to petition the NSW Governor for another examination of the case.
Why is this mutation so important?
The second review, under Bathurst, began in November with an examination of calmodulin (which stands for calcium-modulated protein).
Calmodulin is created by three separate CALM genes and performs several roles throughout the body. One of these is to regulate the movement of calcium, sodium and potassium ions in and out of heart cells. This process creates the electrical pulse of your heartbeat.
CALM mutations have been known only for the last decade. The gene is incredibly well conserved – meaning there is no variation – among vertebrates and other animals. At one point, it was believed any variation in a CALM gene was “incompatible with life”. Scientists now know it might be possible for entire families to possess a mutation, or that some members of a family may survive with a CALM variant while others die.
Studies into calmodulinopathies – diseases caused by changes to these genes – are a recent and emerging field. Researchers believe the G114R mutation disrupts ion regulation and could cause sudden cardiac arrythmia – an irregular heartbeat – including in young children.
When the inquiry opened in November, the Danish professors Michael Toft Overgaard and Mette Nyegaard gave evidence of a functional assay – a test to determine the role of proteins in biological processes – they performed on G114R.
They found G114R impedes calmodulin properly binding to a specific sodium ion channel, as well as calcium ion channels in heart cells.
These Danish scientists lead the roll call of expert witnesses at the hearing starting on Monday. They will be followed by several scientists who presented at the 2019 inquiry and new experts.
They include professors Carola Vinuesa, Matthew Cook and Todor Arsov, who were co-authors with Toft Overgaard and Nyegaard on the G114R research. They have publicly expressed the view that the mutation explains the sudden deaths.
Professor Peter Schwartz, who founded the first register of calmodulinopathies and concluded the “accusation of infanticide might have been premature and not correct” at the time of the first inquiry, is scheduled to appear, likely via video link.
Clinical geneticist Professor Edwin Kirk gave evidence at the first inquiry and is scheduled to appear again. At that inquiry, he and another group of experts firmly classified G114R as a variant of unknown significance – in contrast to Vinuesa and Cook who found it to be likely pathogenic (or disease causing).
In addition, Professor Arthur Wilde – a world-renowned cardiologist specialising in clinical heart failure and arrythmia – will appear. A report he submitted indicated his concerns of a “mismatch” between the Folbigg mutation’s phenotype – or observable traits – and what functional assays in the 2020 research predicted.
Dr Calum MacRae will appear at the end of the week. He is a professor of medicine affiliated to Harvard Medical School, and recently contributed to preprint research into using variant mapping to understand and interpret the function of gene variants.
These experts will likely be asked to provide their views on the functional assays performed by Toft Overgaard and Nyegaard when they appear.
They will be followed in the second week by experts psychologists, neurologists – including sitting federal MP Monique Ryan – and forensic pathologists.
It’s unlikely Bathurst will make any decisions on the case at the end of this three-week hearing block.
The hearing resumes at 10:00am on Monday with the NSW Department of Communities and Justice’s official YouTube live streaming the inquiry.
Originally published by Cosmos as Second inquiry into Folbigg’s conviction to resume in Sydney
Matthew Agius is a science writer for Cosmos Magazine.
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