On February 15th Sally Aldrich spoke to us about her daughter Claire who was born healthy in April 2019 but died of a random genetic mutation before her first birthday.
The mutation was not carried by either parent and caused Claire’s brain to atrophy within eight months.
Testing showed she had a rare HIVEP2 genetic mutation which resulted in seizures, and a possible second rare mutation which led to the deterioration of her brain and ultimately her death. The precise nature of this second mutation could not be confirmed, leaving scientists unable to provide answers to the family. “That lack of closure was so hard to live with as a parent,” Sally said.
The tragedy prompted Sally to form The Claire Aldrich Legacy, a fund set up at Otago University’s Genetics Otago Research Centre that is being used to teach the next generation of young scientists about the importance of genetic research.
Donations to the fund help to establish “Claire’s kit,” a carry-on-size suitcase, filled with material that teaches high school students across New Zealand how genetic mutations are found and how much remains unknown. The kits show students how to read “artificial human” DNA and detect alterations.
Sally’s hope is that students who use the kit and hear Claire’s story, will go on to study genetics, and perhaps do research that will give better knowledge of genetic mutations and new therapies.
With these kits, and Claire’s story, students appreciate that this is not just science in a laboratory, but very important research that affects the lives of real families.
For more information and to help fund Claire Kits visit https://alumni.otago.ac.nz/donate/the-claire-aldrich-legacy
