Kathleen Folbigg is in jail for killing her children as infants between 1990 and 1999.
[Recently] her supporters released a petition signed by 90 scientists, including leading global experts of rare genetic disorders, which argued that rare genetic mutations could explain the children’s sudden deaths.
The chance that one family would be so unlucky as to lose four babies from natural causes is slim. But, as one of the researchers pushing for Folbigg’s freedom said, “in genetics, one-off events are commonplace”.
The crux of the petition is a study based on the full genomic sequencing of Folbigg and her four children – the latter of which were pulled from the tiny bit of blood recorded on hospital heel-prick cards at birth. It found that Folbigg had a previously unreported mutation to the CALM2 gene designated G114R. The CALM2 gene encodes for calmodulin, a calcium-modified protein, and mutations of this gene have been linked to sudden cardiac death.
Caleb and Patrick’s genomes showed a separate rare genetic variant in the BSN gene, which in studies in mice had been linked to early lethal epileptic fits.
Folbigg’s friend Tracy Chapman said Folbigg was “thankful that the focus is now on solid evidence-based, peer-reviewed science in relation to this case, rather than on subjective coincidence and circumstantial evidence”.