Dr. Laura Heathfield
October 20, 2020 | Human ID and Forensics

Laura Heathfield on identification of human remains

Young Investigator Laura Heathfield on using genetic variants to explain a sudden death as well as for forensic identification of human remains
October 20, 2020
Laura talks about MPS analysis and its benefits to the families of deceased persons
The new Investigator blog shines a personal spotlight on young scientists and graduate students as they talk about the exciting early stages of a career in human identification and forensics. The passion and commitment revealed in their stories are an inspiration to all in our community.

This new Investigator blog introduces Dr. Laura Heathfield, a researcher in the Division of Forensic Medicine and Toxicology at the University of Cape Town. Laura’s current work on methods for identification of severely decomposed human remains builds on her achievements investigating genetic explanations for unexplained death in infants.

1. Tell us about your background and how you became interested in forensic science?

I grew up in Cape Town, South Africa and I now work at the University of Cape Town in the Division of Forensic Medicine and Toxicology. My interest in forensic science was sparked during my B.Sc. Honors degree, where I took a module in forensic genetics. I furthered my studies by pursuing a M.Sc. in Forensic Science at the University of Strathclyde and I recently completed my Ph.D. in Human Genetics back at the University of Cape Town. I am particularly interested in forensic genetics in a post-mortem context and maintain close links with the provincial Forensic Pathology Services.

2. Can you provide a summary of the project you are working on?

My PhD research explored the concept of a ‘molecular autopsy’ to investigate genetic variants which could explain sudden unexpected death in infants. In this project I used both targeted genetic screening of candidate mutations, as well as massively parallel sequencing, to investigate variants in over 200 infants who demised suddenly and unexpectedly. We were able to uncover known and novel variants which were able to explain the deaths of several infants, and this information has been fed back to their families. In some instances, family members who were at-risk were also screened and then linked with medical care and interventions. Due to my involvements in the post-mortem setting, I have also become acutely aware of the burden of unidentified human remains at forensic mortuaries in South Africa. Therefore, one arm of my research also focuses on identification methods of severely decomposed human remains.

3. Please describe your typical day in the lab.

My typical day in the lab often involves library preparation for massively parallel sequencing. I also spend a lot of my time in the lab showing students how to carry out new techniques. My research also involves time at the mortuary, where I am either speaking to families or assisting the forensic pathologists with DNA sample collection.

4. What do you find most interesting about your project? Have you seen any surprising results?

The aspect of my research that I enjoy the most is translation into forensic practice, particularly when it helps to provide a family with closure and/or medically actionable results which might be meaningful to other family members. A case which sticks out was I found a homozygous mutation causing galactosemia in a deceased infant. The disease was undiagnosed yet is treatable. The results were fed back to the family in the hope that it would benefit the management of future babies. Another case that sticks out to me was when we received two sets of severely decomposed human remains which washed up from the sea three days apart. The smaller of the human remains still had an intact hand which yielded a fingerprint match to a known person who had been reported missing. Using QIAGEN’s Investigator DNA extraction kit as well as Verogen’s ForenSeq DNA Signature Prep kit, we were able to successfully link the hand to the rest of the body, and provide closure to the family.

5. What are the benefits of your project?

The benefits of this project are that it has an impact on people – either by providing them closure or detecting a severe mutation in the deceased which has the potential to save lives of other family members.

6. What are the major challenges faced while working on your project and how do you overcome them?

Working in a post-mortem mortuary environment can be emotionally draining at times. Debriefing is really important in this regard, as it helps to develop coping mechanisms. Feeding positive findings back to families is also rewarding and is a reminder of why we do what we do.

7. Which QIAGEN products do you use and what do you like about the products?

I almost exclusively use QIAGEN's Investigator DNA extraction kits, and I like how there are other projects and equipment which can easily be integrated into the DNA extraction workflow such as the TissueLyser II to prepare hard tissue for DNA extraction. I also make use of QIAGEN's DNA profiling kits, and I like that they include the Quality Sensor as it helps to differentiate between PCR inhibition and degraded DNA.

8. Outside of forensic science, what are your hobbies?

In my spare time, I enjoy gardening and painting. I love playing with my two ginger cats and spending time with my family. I also like cooking and trying out new recipes. Equal to cooking, I enjoy eating good food with a glass of wine.

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