PUBLISHER'S NOTE: In a post yesterday I announced a 'brief break' to permit me to finalise preparations for my new blog 'The Selfless Warriors.' So here I am'breaking the break' already. I have been following Kathleen Folbigg's case for years. This case is obviously way too important to put on hold. I will keep an eye out for reaction. (And interrupt the break accordingly).
Harold Levy: Publisher: The Charles Smith Blog.
QUOTE OF THE DAY: "Professor Schwartz told the ABC: "I have no idea whether Kathleen Folbigg is innocent or guilty, but I think that she was sentenced on the basis of incomplete evidence and of incorrect opinions. "A fair judicial system would acknowledge this and look again at the case on the basis of the novel evidence. "Then, it is entirely possible that the Court will confirm the original sentence, but without ignoring the new facts."
PASSAGE OF THE DAY: "The new scientific findings lend weight to the theory that, for all four of Folbigg's children, the underlying causes of death may lie in rare and hitherto undiscovered genetic variants, or mutations. The announcement builds on medical and scientific evidence which was presented to last year's judicial inquiry into Folbigg's convictions, and flies in the face of the inquiry's conclusions. In 2003, Folbigg — from NSW's Hunter Valley — was convicted of murdering three of her children, Patrick, Sarah and Laura, and the manslaughter of her firstborn, Caleb. The judge who headed a judicial inquiry into her convictions last year concluded the evidence he had heard "reinforces her guilt". Folbigg has consistently denied harming her children, and the case continues to divide public, scientific and legal opinion."
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STORY: "Kathleen Kolbigg conviction questioned after scientists discover mutation which likely killed two children," by reporter Quentin McDermott, published on August 19, 2020.
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KEY POINTS:
- Scientists say the new discovery shows a "strong possibility" Folbigg's daughters died a natural death
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Some experts say the new evidence points to a genetic mutation -
Folbigg has always denied killing her children Sarah, Laura, Patrick and Caleb
GIST: "Fresh genetic evidence which raises new questions about the conviction of Kathleen Folbigg for killing all four of her children has been unveiled.
The new genetic findings, by an international team of 27 scientists from Australia, Denmark, Italy, Canada, the United States and France, have been peer-reviewed and published today in top international cardiology journal, Europace.
The scientists say they have examined the presence of a novel, never-before reported, genetic mutation in Folbigg's children Sarah and Laura that they inherited from her.
Scientists in Denmark, who have carried out biochemical experiments say the results show the mutation, known as the CALM2 G114R variant is "likely pathogenic" and "likely" caused the girls' deaths.
While not the focus of their experiments, the international team also reported a different genetic mutation found in Folbigg's two boys, Patrick and Caleb, that could explain their deaths too.
The scientists found that both Folbigg boys carry two mutated copies of a gene which, when defective, causes early onset lethal epilepsy in mice.
Folbigg's second child, Patrick, had epilepsy for four months before he died.
The scientists say the investigations into the boys' variants are still in the preliminary stages, unlike the variant in Sarah and Laura, which has now been studied in detail.
The new scientific findings lend weight to the theory that, for all four of Folbigg's children, the underlying causes of death may lie in rare and hitherto undiscovered genetic variants, or mutations.
The announcement builds on medical and scientific evidence which was presented to last year's judicial inquiry into Folbigg's convictions, and flies in the face of the inquiry's conclusions.
In 2003, Folbigg — from NSW's Hunter Valley — was convicted of murdering three of her children, Patrick, Sarah and Laura, and the manslaughter of her firstborn, Caleb.
The judge who headed a judicial inquiry into her convictions last year concluded the evidence he had heard "reinforces her guilt".
Folbigg has consistently denied harming her children, and the case continues to divide public, scientific and legal opinion.
Carola Vinuesa, a Professor of Immunology at the Australian National University (ANU), and Fellow of the Australian Academy of Science, revealed the scientists' findings in a speech this afternoon to a symposium hosted jointly by the Australian Academies of Science and Law.
Last year, with other geneticists, she gave evidence to a judicial inquiry into Folbigg's convictions, after being asked to do so by her legal team.
Professor Vinuesa told close to 700 registered participants at the symposium she had been asked to analyse the genomes of Kathleen and her four children in early 2019.
She described the process of sequencing entire genomes from the children's neonatal heel-prick blood cards that were over 20 years old as an "incredible" achievement.
The children's father, Craig Folbigg, declined to provide DNA to the scientists.
"Despite this disadvantage, we found a novel, never-before reported mutation in Sarah and Laura that had been inherited from Kathleen," Professor Vinuesa said.
"The variant was in a gene called CALM2 [that encodes for calmodulin]. Calmodulin variants can cause sudden cardiac death."
Girls 'died a natural death':
Professor Peter Schwartz, senior author of the paper published today and a world-leading authority on genetic causes of cardiac arrhythmias and sudden, unexpected death, said: "The significance of our evidence is that there is a strong possibility that the two female Folbigg children died a natural death, due to a lethal arrhythmia favoured by the presence in these two children of a disease-causing mutation inherited from the mother.
"This mutation causes a 'Calmodulinopathy' — an extremely severe arrhythmic disease that can manifest in three main clinical variants, all predisposing to sudden cardiac death in infancy and childhood, or also later in life."
Professor Schwartz added: "The two girls with the Calmodulin mutation fit the pattern well known in genetic disorders and — more likely than not — they both died a natural arrhythmic death due to their disease.
"It goes without saying that this important finding does not explain the death of the two boys.
"That's another story and I cannot comment on it."
As part of the new research, scientists conducted experiments to establish whether the CALM2 G114R mutation found in Folbigg's female children was pathogenic.
Professor Michael Toft Overgaard, Head of Chemistry and Bioscience at Aalborg University in Denmark, led some of the experiments which probed how the mutation affects the heart.
He said their findings show "the Folbigg mutation significantly impairs the function of the calmodulin protein to the same degree as two other calmodulin mutations, that are recognized as severely arrhythmogenic, predisposing to sudden cardiac death in infancy and childhood, including during periods of sleep."
"If the heart cell was a car, the Folbigg car has a partly dysfunctional brake," he said.
"This works out fine for most situations, and you might adapt to this in your driving style.
"But if you end up in a critical situation, where you need the full potential of normal brake, this will be catastrophic."
Professor Toft Overgaard's analogy alludes to the evidence given by the forensic pathologists during last year's inquiry, that Laura's death could be attributed to myocarditis.
Myocarditis is an inflammation of the heart muscle which, in rare cases, causes sudden death.
In their paper, the international team said: "Both Sarah and Laura suffered from respiratory infections immediately prior to their deaths and Laura also suffered from myocarditis, which may have triggered the lethal event ... myocarditis is thought to be a major cause of sudden cardiac death in the first two decades of life".
Only one cardiologist — Professor Jonathan Skinner — appeared at last year's inquiry.
The scientists, in their paper, say that their new evidence "challenges" his position the G114R variant found in the girls was unlikely to be pathogenic because it would be "very unusual to have a disease causing variant responsible for deaths at such young ages also present in a healthy person in her 50s".
Professor Skinner also suggested that calmodulin-related sudden deaths occurring during sleep in young children had not, to his knowledge, been reported at the time.
Professor Schwartz, who wrote to last year's inquiry but was not invited to give evidence in person, said Professor Skinner's statements "incorrectly but effectively reduced the possibility that the [inquiry] would consider that the two Folbigg girls had died a natural death, related to their genetic defect."
Professor Schwartz told the ABC the understanding of inherited cardiac arrhythmias must impact on the way legal systems react to the occurrence of multiple infant and child sudden deaths in one family.
"Whenever someone dies suddenly, without obvious explanations, and a molecular autopsy identifies a mutation known to cause sudden death, then this is sufficient to diagnose that particular disease," he told the ABC.
"This means that, should there have been only one child dying in the Folbigg family, and with the evidence of such a mutation, this would be an 'open-and-shut' case with the diagnosis of 'sudden death due to a lethal arrythmia related to a Calmodulin mutation'.
"This makes it absolutely necessary to perform a molecular autopsy searching for genes associated with sudden death, before almost automatically assuming that the children have been smothered.
"In addition, it would be wise not to rely on just one 'expert witness'."
The ABC invited Professor Arthur Wilde, Head of the Department of Cardiology at the University of Amsterdam, and a member of the European Reference Network GUARD-Heart, to comment on the scientists' paper, and their challenge to Professor Skinner's evidence.
He said Professor Skinner may not have had access to all the necessary data from the International Registry for Calmodulinopathies, and to all the data published in the manuscript, before suggesting that the G114R variant was unlikely to be pathogenic.
He added: "Caution should be taken to use expert witnesses in sensitive cases like this one without full disclosure of all information."
A potential problem — and one of Professor Skinner's concerns with identifying the CALM2 variant as the cause of death — was that Kathleen Folbigg showed no clear cardiac abnormalities.'
However, the paper's authors note that there are several reports of families with lethal CALM variants that have asymptomatic carriers.
"Had the biochemical experiments been performed before Professor Skinner gave evidence, he may have formed a different view about the likelihood the G114R variant was pathogenic," Professor Vinuesa said.
Professor Skinner told the ABC: "I would be interested to review the new evidence."
Professor Vinuesa and her colleague, Professor Matthew Cook, gave their evidence to last year's judicial inquiry jointly.
She was asked to give evidence by Folbigg's legal team and Professor Cook was asked to give evidence by the Crown.
Other medical experts, including Professor Skinner, were engaged to give evidence by the Crown.
Professor Vinuesa told her audience: "I was expecting the points of disagreement between the two genetics teams to have been referred to domain experts.
"But there were no domain experts invited to the hearings.
"There was not a single expert in the genetics of cardiac arrhythmias. And there were no calmodulin experts in the room."
Fresh legal challenge:
Later this month, a date will be set for a new hearing which will review the findings made by Justice Reginald Blanch at last year's inquiry.
Folbigg's legal team is arguing that on multiple counts, in relation to the evidence presented at her trial and uncovered since then, there is reasonable cause for doubt that she smothered all four of her children.
Her lawyers are expected to argue that the fresh genetic evidence presented this week raises further reasonable doubt about her convictions for murdering Sarah and Laura, and strengthens the argument for her case to be referred to the Court of Criminal Appeal.
Professor Wilde told the ABC: "I certainly do believe that the case should be referred back to another court for a further appeal."
In his judgement at the end of last year's inquiry, Justice Blanch conceded that in light of the genetic evidence presented then it was "plausible that Sarah and Laura may have had a cardiac condition and that raises a possibility it caused their deaths".
But he said that this was an "exceptional clinical scenario", and that, when considered "with all the other evidence in the inquiry", including the diary entries and what he judged to be Folbigg's "lies and obfuscation", the "only conclusion reasonably open" was that she smothered Sarah and Laura.
He added: "Even on the basis of accepting the opinion of Professor Vinuesa that it is now plausible that Sarah and Laura Folbigg may have had a cardiac condition, and that that raises a possibility it caused their deaths, I do not consider the Inquiry should be re-opened for the purpose of holding further hearings about the CALM2 variant identified in Sarah and Laura."
The scientists who have published their fresh research disagree.
Professor Schwartz told the ABC: "I have no idea whether Kathleen Folbigg is innocent or guilty, but I think that she was sentenced on the basis of incomplete evidence and of incorrect opinions.
"A fair judicial system would acknowledge this and look again at the case on the basis of the novel evidence.
"Then, it is entirely possible that the Court will confirm the original sentence, but without ignoring the new facts."The entire story can be read at:
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BACKGROUND: (Wikipedia):
https://en.wikipedia.org/wiki/Kathleen_Folbigg
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