In 2013, Auburn alumni Michael and Sara Heatherly received a GM1 gangliosidosis diagnosis for their four-month-old son Porter. For more than four decades, Scott-Ritchey researchers have sought a cure for GM1, a rare neurodegenerative disease found in animals and humans.
Porter Heatherly died on Nov. 10, 2016, but the work at Scott-Ritchey Research Center continues.
An event to benefit Porter’s Fund, a Cure for GM1, will be held this Saturday to pay tribute to Alabama’s first known case of the rare genetic disease, and raise money to support a cure being led by scientists at the Auburn University College of Veterinary Medicine.
Doug Martin, a professor in the college’s department of anatomy, physiology and pharmacology, and a team of Scott-Ritchey Research Center scientists have found a cure for the disease.
His research, and that of an international consortium, is a gene therapy to produce enzymes found missing in GM1 and Tay-Sachs-related diseases.
Martin and his team have successfully extended the life expectancy of cats by more than five times compared to non-treated GM1 cats with the use of gene therapy, a non-harmful viral vector to produce enzymes missing in GM1 and Tay-Sachs-related diseases.
"There is no question the disease can be treated successfully," Martin said. "We have seen how it has worked in cats with the disease and how it is has extended their lives as healthy animals."
The goal is human clinical trials, slated for 2018, at the National Institutes of Health and the upcoming event at the Auburn University Club will provide the funding needed to pay for final tests.