Auburn University Researchers Working on Gene Therapy to Cure Two Genetic Diseases Fatal to Children

Two Auburn researchers are making a breakthrough in finding a cure for two genetic diseases.

The diseases: Tay-Sachs and gangliosidosis, or known as GM1, are fatal in children and currently there’s no cure.

These researchers are using their gene therapy on cats and now sheep and have seen tremendous results.

They are now nearing human trial and families who’ve lost loved ones due to these diseases are ecstatic with the next step.

“You never think you’ll be in that situation,” said Sara Heatherly, who lost her son Porter to GM1.

Porter was diagnosed when he was four months old and passed away when he was four.

“We went from thinking our son had a vision problem to realizing that he had a serious genetic disease in a span of a few hours,” said Michael Heatherly.

It’s an inherited disorder where overtime it destroys nerve cells in the brain and spinal cord and only gives these kids 3 to 5 years to live.

There’s also no signs during pregnancy and currently no cure.

“I remember we sat in that doctors office and someone hands you a piece of paper and says hey, this is what your son has and go home and watch him die. You are telling me this is 2013 and there’s nothing you can do and nowhere you can go? And they said no,” said Sara Heatherly.

But researchers at Auburn University’s College of Veterinary Medicine are trying to change that.

“It’s due to a lot of innovation and development in the gene therapy field that allows us to get to this point right now,” said Dr. Doug Martin, Professor at Auburn University’s College of Veterinary Medicine.

Dr. Henry Baker, a graduate of Auburn University and director of the Scott-Ritchey Research Center, started testing the cats that were affected with the disease in the 1970s. But, could never nail down a way to make them better.

But, then Dr. Martin and Dr. Heather Gray-Edwards came along and within the past couple of years, they found something that worked.

“Then we started gene therapy and the results in treated cats were good, very good. They were living 4 to 5 times longer than untreated cats and their quality of life was much better. So, we knew at that point that we had something that we should translate into humans,” said Dr. Martin.

Now, they are testing it on sheep and are close to getting their gene therapy to human trial.

“We never really expected it to be as successful. You never do. So, we figured it would have a modest affect on life span. We never thought animals would be living 7 years after treatment when it’s usually fatal in animals in just a few months,” said Dr. Gray-Edwards.

Their goal is to cure the disease so other families don’t have to go through the same pain as the Heatherly’s did.

“We know lots of these kids and lots of these families and we just want to cure ourselves out of a job and never worry about these diseases every again,” said Dr. Gray-Edwards.

“A lot of parents would say just give us a few more months with our kids. If its not a cure, if it doesn’t make them dramatically better, if it gives us a few more months, that’s all we care about. But, we are hoping it will be more effective than that. We don’t want to just prolong their lives in a prolonged state, we want to make them better and according to what we’ve seen in our animals, that’s a possibility,” said Dr. Martin.

They are banking on getting their gene therapy in to human clinical trial by next summer.

Porter’s Facebook Page:

More information on GM1 and the researcher’s efforts:


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