A grandfather’s struggle leads Northeastern student to a co-op studying neurodegenerative prion disease.
Sophie “Sofi” Gandsas helped coordinate three studies of neurodegenerative prion disease at Massachusetts General Hospital during her co-op.
Northeastern student Sophie “Sofi” Gandsas was inspired to study neuroscience after watching her grandfather struggle with Parkinson’s disease.
So, when presented with a co-op opportunity that focused on research of a similar group of neurodegenerative disease – rare and fatal prion disease – Gandsas was eager to contribute.
“It’s very difficult to work in a field where there aren’t a lot of cures and treatments available,” said Gandsas, who is on the pre-medical track. “So being involved in research has been really amazing.”
Gandsas is a third year student studying behavioral neuroscience and Spanish for healthcare. During a co-op last spring, she worked with researchers and nurses with Massachusetts General Hospital (MGH) to help coordinate clinical trials for prion disease. Her tasks included scheduling and interacting with participants, drawing and processing blood samples and handling cerebrospinal fluid samples, performing some cognitive tests, and more.
Prion disease is a group of fatal disorders affecting humans and other animals that are caused by proteins that misfold into abnormal shapes called prions. These prions prompt other proteins to “misfold” – meaning that the protein fails to fold into its correct three-dimensional shape. This can damage nerve cells and create tiny, sponge-like holes in brain tissue that lead to dementia, inability to walk or communicate, and death, according to the Centers for Disease Control and Prevention.
“When one protein misfolds, it changes its shape and therefore changes its function,” Gandsas said. “That then causes all of the proteins around it to change their shape as well.”
Prion disease is rare, with around one to two cases per million people occurring each year worldwide, according to the Cleveland Clinic. Perhaps the most well-known prion disease is bovine spongiform encephalopathy, or mad cow disease. But it is especially uncommon. According to the CDC, since 1996, approximately 233 people have contracted mad cow which can spread to humans by eating infected nervous tissue.
Another 5% to 15% of prion cases can be passed down in families, due to a mutation in a prion protein gene, the CDC said.
But generally, not a lot is known about the condition, Gandsas said, as prions were not identified until the 1980s.
“Before that, it was often misdiagnosed as Parkinson’s disease,” Gandsas said. “So we see a lot of patients who actually have a very strong family history of prion disease, but they didn’t realize it because their parents or grandparents were diagnosed with Parkinson’s.”
Perhaps the greatest unknown is the cause of about 85% of cases, which the CDC considers a “sporadic” form of the disease.
But research is ongoing, including at MGH.
Gandsas was helping coordinate three ongoing studies involving prion disease.
The first was an observational study of asymptomatic patients, most with a family history of prion disease, which has been ongoing since 2017. Each year, the study participants come in for cognitive testing and give blood and cerebrospinal fluid samples to see if they have measurable molecular signs of the disease.
The other studies were drug trials, both aiming to reduce the amount of prions in the brain by stopping the prion protein from replicating itself, but each using a different method to do so.
“If we are able to, in general, find a way to lower that protein amount, that could have really significant applications not just to this disease, but to a lot of other neurodegenerative diseases that function similarly in their biological mechanisms,” Gandsas said, citing Alzheimer’s Disease as an example.
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Gandsas said that the co-op provided her not only with skills like drawing and processing blood samples and handling cerebrospinal fluid samples, but it also taught her that “there is no role too small to have an impact.”
“No matter what you’re doing when you’re involved in medicine – when you’re involved in clinical research, or even if you’re only seeing the patient for 5 minutes and bringing them into a room – you still have the ability to impact the trajectory of their visit,” Gandsas said.
Alison McManus, a clinical research nurse manager of MGH’s Clinical Research Translational Unit where the studies were conducted, said Gandsas stood out for both her lab experience and skills and her ability to connect with patients.
“She’s very calming and she doesn’t get rattled easily,” McManus said, adding that such a temperament will serve Gandsas well in medical school.
Gandsas, meanwhile, plans to continue working part-time with the researchers this fall.
“There’s a lot we don’t know about the brain and there’s huge room for research and developments that I hope to see in my lifetime but, unfortunately, were not available to my grandfather,” Gandsas said.
