The ACMG's Five-Teared Scale - Pathogenic or Not?

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Both teams started with a big picture approach, using bioinformatics tools to scan the genomes for rare variants. These alone are not a reason for concern or a sign of disease. The Sydney team found 279 among the five Follbig's. By filtering for genes linked to cardiac diseases, respiratory disorders or sudden death, they whittled the list down to just nine. Within that list was the variant in Calm 2 that VINU-SAR had identified. It was present in Follbig and her two daughters, Laura and Sarah. But when the teams issued their reports in March 2019, they differed in how they classified the rare variants. Although the Canberra team suggested both the

Kathleen Folbigg has spent nearly 20 years in prison after being convicted of killing her four children. But in 2018, a group of scientists began gathering evidence that suggested another possibility for the deaths — that at least two of them were attributable to a genetic mutation that can affect heart function. A judicial inquiry in 2019 failed to reverse Folbigg’s conviction, but this month, the researchers will present new evidence at a second inquiry, which could ultimately spell freedom for Folbigg.

This is an audio version of our Feature: She was convicted of killing her four children. Could a gene mutation set her free?

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