Researcher and Patient Work Side-by-Side on Rare Disease Research

16-year-old Aimee Milota stands in the shadows, as her mom Michele measures the levels of ultraviolet light in the room. 

“Nope, this room isn’t safe,” Michele announces, and leaves with her handheld UV meter to check another. 

Aimee lives with a genetic disorder known as Xeroderma pigmentosum, or XP. Any ultraviolet exposure could potentially lead to premature skin cancer or third-degree burns. She has to cover herself head to toe every single day of her life when she is outside or in the path of UV light, often wearing special gloves and a hat that protects her from the UV light.

But soon there will be one room inside Nils Hasselmo Hall Aimee will not have to worry about covering up in- the lab where she will spend the summer as an intern researching and studying the very disorder she has.

One in a million

Xeroderma pigmentosum is a rare disorder. Approximately one in one million people in the US and Europe are affected by it. People with XP have a decreased ability to repair DNA damage such as that caused by UV light and because of that are UV-sensitive and have an 10,000-fold increased risk of skin cancer. Many people with XP will die at an early age from skin cancer if they are unprotected from sunlight and don’t visit their dermatologist for check-ups at least four times per year.

Aimee was diagnosed with skin cancer at 16 months old, and shortly after that, her mother was told Aimee had XP. From then to the age of three, Aimee had to have 26 skin cancers removed.

“It can be difficult,” said Michele, Aimee’s mom. “You have to be very careful. You can’t stop at a rest stop for example, you always have to think, what about the windows? There are limitations, but you have to figure it out.”

Michele, who founded the nonprofit organization "XP Family Support Group,” says that’s what Aimee has been doing her whole life. “She won’t let anything stop her.”

And now she is taking that even a step further- traveling from her home in California to the University of Minnesota for a summer internship to study XP with researcher Laura Niedernhofer, MD, PhD, Director of the Institute on the Biology of Aging and Metabolism, University of Minnesota Medical School, and Professor, Biochemistry, Molecular Biology and Biophysics in the College of Biological Sciences.

“I know I can’t go outside without getting third degree burns or skin cancer, but now I will actually get to learn more about the genetics behind it,” said Aimee.

Leading the way for the future

“I know nothing other than living with this condition,” Aimee said. She is used to wearing protective gloves and a hat, which has a screen that also covers her face. But this is not conducive to a lab environment where she will be working with small tools and needing to look into microscopes.

Therefore, every window in the lab was installed with UV blocking film, donated by 3M and Sun Control of Minnesota.

“I never thought I would be doing this,” said Aimee. “I never thought I would have the opportunity to learn the genetics behind my condition. I’m really grateful.”

Dr. Niedernhofer is also grateful for this opportunity and what it might teach her.

“I have always studied DNA damage and how it is repaired in the body,” explained Niedernhofer. “I think it’s really important for all of us to understand this rare disease, and therefore skin cancer, better.”

As she told KARE 11 in an interview which ran at the end of May, "We've learned everything that we know about skin cancer, which affects so many people in the United States, because of children with XP."

Aimee’s internship starts early June.

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