Top scientist stands by Kathleen Folbigg findings

World-leading scientist Carola Vinuesa has defended her objectivity over her role in unravelling the DNA of convicted child killer Kathleen Folbigg.

Kathleen Folbigg in 2019. Picture: AAP

World-leading scientist Carola Vinuesa has defended her objectivity over her role in unravelling the DNA of convicted child-killer Kathleen Folbigg, revealing new aspects of the children’s genetics which could have led to their deaths from natural causes.

In the third day of an inquiry which could see Folbigg exonerated of killing her four children, Professor Vinuesa said the genetic evidence she had provided “could not be manipulated” in response to suggestions that she had developed an “unconscious sympathy” to Kathleen Folbigg, who has served 20 years in prison for smothering her children Caleb, Patrick, Sarah and Laura.

Professor Vinuesa said it was her responsibility as a scientist that the research was heard, after a series of social media posts and articles in which she discussed the case were tendered in the inquiry.

“The evidence I have provided cannot be manipulated; you can test it, you can find these mutations,” she said.

Professor Vinuesa told the inquiry that in addition to the mutation on the calmodulin or CALM2 gene that Folbigg and her daughters carried and the “rare” variant on the BSN gene that affected the boys, all four children carried a newly discovered gene associated with epilepsy.

“Only last year there has been a new gene associated with epilepsy, CELSR3,” she said.

“Now the four Folbigg children have an ultra-rare variant in this gene, there is only one other individual in the world found to carry this variant … It has been shown in a large project as a probable cause of febrile seizures and epilepsy with antecedent febrile seizures.”

Professor Vinuesa said Patrick, who had been diagnosed with epilepsy before he died at eight months old, carried another rare variant of another gene called SEH1L which was also linked to seizures.

“It is a variant which has not been inherited from the mother so is assumed to be from the father, but it might not be, so it could be de novo,” she said.

The children’s father, Craig Folbigg, has refused to provide DNA evidence to the inquiry.

Professor Vinuesa said the CALM2 gene had only eight known variants, none of which had been found to be benign.