Friday, November 22, 2024

Uncovering a 20 Year Old Family Murder Mystery With Genetics



In 1999, Kathleen Folbigg was convicted of murdering her four children over a ten year period. The first three children were all originally found to have died in their sleep, due to natural causes; however, the fourth death caused suspicion. Even though the fourth child, Sarah, had evidence of passing away from myocarditis (from a respiratory infection), the forensic pathologist stated that Sarah's death was undetermined after hearing about the three previous deaths. After misinterpreting her grieving diary entries, Kathleen's husband incriminated her and she was sentenced to 40 years of prison, four years later.

In 2018, Dr. Carola Vinuesa, immunologist/geneticist working at Australian National University, was contacted by a former student who wanted to discuss Kathleen. Immediately, Vinuesa was intrigued that all four children had evidence of epilepsy, myocarditis, and respiratory infections before their deaths and knew that murder may not have been the cause of their untimely death, but rather a rare genetic mutation. After taking a saliva sample from Kathleen, Vinuesa found a mutation in the CALM2 gene, which leads to heart arrhythmia and infant death. Two of the children were also found to have inherited the mutation from their mother. The other two children were found to have a rare pathogenic missense variant on a different gene (Bassoon), found to lead to cause early-onset lethal epilepsy in mice.  

In her time she spent in the courtroom, Vinuesa learned that many pieces of genetic evidence are ignored in our legal system, for they want to be entirely sure that a cause of death was from genetics alone. However, in a case where there was no actual evidence of foul play (only suspicion and strange circumstances), genetics must be taken higher into consideration. 

After five years and two legal inquiries from Vinuesa, Kathleen Folbigg was finally released from prison in June of 2023.

This discovery is incredibly fascinating and is a prime example of how important genetics is, in all areas in life. I also found this article intriguing because we have been discussing the discovery of DNA fingerprinting in the world of forensics in class the past couple weeks. There are many examples of genetics-solved-murders on television shows and movies, but to read about a real life example is truly breathtaking. 



 
SOURCES:

https://www.the-scientist.com/searching-for-the-rare-variants-in-a-genetic-haystack-72009

https://pubmed.ncbi.nlm.nih.gov/27100291/

https://www.science.org/content/article/how-geneticist-led-effort-free-mother-convicted-killing-her-kids

3 comments:

  1. It's fantastic to hear that a misjudged woman, Kathleen Folbigg, was freed thanks to the development of genetic reading technology. Being able to determine a mutation in the CALM2 gene was the cause of her children's deaths, and not her own doing must have been a relief off of Kathleen's shoulders. With further development of genetic technology, especially in the police field, will be able to help many people.

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  2. It's surprising to realize that genetics isn't consistently utilized in the legal system or regarded as entirely reliable. This woman would be in prison right now if it wasn't for genetics. I'm glad that the truth was found and that she was freed. This story is such a powerful reminder of how advances in genetics can reshape our understanding of justice. Kathleen Folbigg’s case highlights the tragic consequences of misinterpreted evidence and the importance of incorporating scientific findings.

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  3. This kind of news it is why I watch forensic files religiously. The advancing in technology in the genetic field have made it possible to solve cases like this one and to give freedom to people that were imprisoned unjustly. It would be great to know what methods Dr. Vinuesa used to solve this case

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