Maple Grove Alum Seeks Funding for Rare Genetic Heart Research

Just a year ago, Claire Stern’s life changed forever with the diagnosis of a rare genetic heart condition. Since then, the Maple Grove basketball alum turned that diagnosis into a passion by striving to fund research that could change others’ lives for the better.

Stern was at home last June after finishing her first year playing a successful season of Division I basketball at North Dakota State University. She began having what she later learned were a series of heart attacks.

At the hospital, doctors determined her heart was damaged. In an instant, her basketball career was over. She later received a diagnosis of a PPA2 mutation.

PPA2 is a rare genetic defect. It affects the mitochondria, which transform nutrients into energy within cells. Both of Claire’s parents learned that they carry the mutation. 

Claire and her mom, Sheila, started the Rare DNA Foundation this fall. Their goal is to raise awareness of PPA2 and help fund research. The Stern family says they’re fortunate — there are researchers willing to get started at the University of Minnesota.

“I think when you get something that’s so ultra-rare, you anticipate as a family that your long-term care, your research care, all of that potentially is either going to be nonexistent, or perhaps states away,” Sheila Stern said. “We’re just really fortunate that by raising funds, that we will be able to give hope to patients like Claire and her family, but also other families who might face this in the future, too.”

Claire still goes to school at North Dakota State University. She’s also still a part of the team, serving as a student assistant rather than a player. She still travels with and gives encouragement to her teammates.

Claire and Sheila Stern at a booth for RareDNA Foundation.

Claire’s New Team

Though she wasn’t playing basketball anymore, Claire began to form a team of her own.

“If you came into the ICU, and you met Claire and she liked you and you were going to impact her care — she was like: welcome to the team,” Sheila said.

On that team? Dr. Forum Kamdar, a University of Minnesota researcher. Kamdar wasn’t her main physician that day, but brought Claire into the lab for testing. She and Claire bonded over being Maple Grove High School grads. Kamdar knew she had the tools in her lab to help.

“I was really invested in understanding after having met Claire, and just saying we need to find some answers,” Kamdar said. “This is really something that we can help with. Our lab is set up to understand how gene mutations in the heart can result in heart failure.”

Kamdar said there are only 60 to 70 documented cases with even fewer survivors. Claire is one of the oldest. Many who lose their lives with PPA2 are babies. There’s also very little research on the subject.

Kamdar’s lab has the ability to take stem cells and allow them to mimic the function of the heart. That work will allow them to study the way they function. With that knowledge, her team could eventually discover ways to treat or even cure PPA2. Claire, whose health is currently stable, is able to help.

“We’ve already had the real benefit of Claire and her family, who are real invested in this process. They’ve come in and actually donated blood cells — which we’ll be able to make into the human IPS cells,” Kamdar said.

A postdoc in Dr. Kamdar’s lab looks at stem cell samples. He said the cells actually beat — just like a heart — so they can research the way they work.

Bringing Hope

Kamdar said getting involved with this lab is a great way to get involved with community and gives hope to families that could face the rare disease in the future. Claire’s biggest concerns were the lack of information and the lack of treatment options. This could change that.

“I think that’s the most important part for me, is bringing hope to families and patients — that there’s something that can be done,” Kamdar said.

While Kamdar’s lab is equipped to do the work, it needs funding to sustain its research. If you’re interested in helping donate to PPA2 research, you can at the RareDNA Foundation’s Support page. The University of Minnesota Foundation also has a fund set up on its website.

Maple Grove Senior High School

Maple Grove