Professors Michael Toft Overgaard and Mette Nyegaard outside the Folbigg inquiry in Sydney on Tuesday.

Professors Michael Toft Overgaard and Mette Nyegaard outside the Folbigg inquiry in Sydney on Tuesday.Credit:James Alcock

Former NSW chief justice Tom Bathurst,KC,is heading an inquiry into Folbigg’s convictions and is considering whether there is reasonable doubt about her guilt. New research suggesting the genetic variant may cause cardiac arrythmias – irregular heart rhythms – and sudden unexpected death is a focus of the inquiry.

Folbigg’s DNA was sequenced and analysed after her conviction,along with DNA samples from her four children. That work revealed Folbigg and her daughters had a novel variant in a gene that produces the calmodulin protein,CALM2. The variant,known as G114R,was not found in Caleb or Patrick.

Calmodulin plays a role in heart function as well as other functions in the body,the inquiry has heard.

Kathleen Folbigg gave evidence at the 2019 inquiry but is not expected to appear in the new inquiry.

Kathleen Folbigg gave evidence at the 2019 inquiry but is not expected to appear in the new inquiry.Credit:Nine News

A March 2021 article in the journalEP Europace –co-authored by Danish research scientists Professor Michael Toft Overgaard and Professor Mette Nyegaard,among othersexamined the Folbiggs’ genetic variant.

It concluded that calmodulinopathy,a life-threatening arrhythmia syndrome,“emerges as a reasonable explanation for a natural cause” of the deaths of Sarah and Laura.

“I take it as co-authors you agree with that conclusion?” counsel assisting the inquiry,Julia Roy,asked Overgaard and Nyegaard on Tuesday.

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“That’s correct,” Overgaard replied. Nyegaard agreed.

Folbigg inquiry

  • Under NSW law,the governor may direct a judicial officer to conduct an inquiry into a conviction where it “appears that there is a doubt or question as to the convicted person’s guilt ... or as to any part of the evidence in the case”.
  • This is the second inquiry into Kathleen Folbigg’s 2003 convictions for the murder of three of her children,Patrick,Sarah,and Laura,and the manslaughter of her first child,Caleb.
  • Former NSW chief justice Tom Bathurst,KC,is heading the inquiry. He will consider whether there is a reasonable doubt about Folbigg’s guilt. If so,he may refer the case to the Court of Criminal Appeal to consider whether her convictions should be quashed.

“To be clear,you do not say that these girls in fact died by reason of calmodulinopathy?” Roy asked.

“No,” Overgaard said.

“Would you say ... it was likely that the girls died by reason of the variant?” Roy asked.

“From what we know,yes,” Overgaard said. “Definitely,yes,with the impact we see. As we write,we think that it is likely that this mutation can have caused the death.”

Nyegaard said “it looks like a bad variant”.

Roy asked whether they would have predicted the variant would have caused the deaths of Sarah and Laura in infancy if they did not know they had died.

“You would perhaps not predict very early death,” Overgaard said.

“So is it inherent,then,in your conclusion that it is likely to have caused their deaths the fact that they died?” Roy said.

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“Yes,” Overgaard said.

“To be clear,have you placed any weight at all on the fact of the death of their two brothers?” Roy asked.

“No,” Overgaard said.

The 2021 article said the genetic variant was “associated with sudden death in infancy and childhood”. Asked if mutations in the CALM2 gene were “particularly associated with sudden death in infancy and childhood as against other age categories”,Overgaard said,“not that I’m aware of;I believe there are a range of ages”.

Nyegaard led a study that identified the first CALM gene variant in a large Swedish family. That research,published in 2012,concluded that “calmodulin mutations can cause severe cardiac arrhythmia”,or irregular heart rhythms.

The inquiry adjourned on Tuesday and will resume in February to allow other experts time to consider new research by Overgaard.

Each of the children died suddenly in the family’s Hunter Valley home,aged between 19 days and 18 months. Their deaths occurred over a 10-year period from February 1989 to March 1999.

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