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CU Anschutz intern searches for a cure to a rare genetic disorder

Elijah Johnson spent the summer as an intern at CU Anschutz looking for an answer to Li-Fraumeni Syndrome, a rare hereditary disease that affects his family.

AURORA, Colo. — A student researcher at the University of Colorado Anschutz Medical Campus is looking for a cure for a rare genetic disorder that increases the risk of cancer.

Elijah Johnson, a junior at Colorado Christian University in Lakewood, spent his summer as part of a small group of student interns on the CU medical campus in Aurora researching a cure for Li-Fraumeni syndrome, or LFS.

“LFS is a mutation or a genetic change in a gene in your body called TP53 that is known as the guarding of the genome,” Johnson said. “It has a very big role in preventing cancer, so when this change takes place, like I have in my cells because of LFS, then my cells are worse at preventing cancer and thus they can become cancerous in faster fashion.”

According to the Li-Fraumeni Syndrome Association, people with LFS have an approximately 50% chance of developing cancer by age 40 and up to a 90% by age 60.

Nearly 100% of women with LFS will develop cancer in their lifetime due to their markedly increased risk of breast cancer, and 40% of children with LFS will develop at least one cancer by the age of 18.

The hereditary cancer syndrome affects family members from generation to generation due to a mutation in a tumor suppressor gene known as TP53. Johnson said his family started looking for answers after his mom Noelle was diagnosed with multiple cancers.

Credit: Byron Reed
Elijah Johnson (right) and his mom, Noelle

“My mom has had three different cancers as of now, and my mom’s mom passed away from a cancer at 50 … and great-grandfather also passed away from a tumor pretty early in his life,” Johnson said. “It’s been a trend in our family, but we were only diagnosed with [LFS] 10, nine years ago, so knowing we have it now is a good thing.”

Johnson, his mom and his younger brother Simon were diagnosed with LFS when he was in seventh grade. He said it was stressful trying to deal with the problems of being a teenager and worried about his family.

“It was just upsetting throughout that experience of being a middle schooler and trying to find out who I was and what I was supposed to do and everything about myself, and on top of it, I had to worry about my physical health and my brother’s and my mom’s,” Johnson said. “I was very upset, angry, just confused mainly because my youngest brother was diagnosed with it as well, and he was probably 7 at the time.”

Johnson’s motivation to find a cure eventually lead him to an internship as part of a small group of students from across the United States in the Cancer Research Experience for Undergraduates (CREU) at the University of Colorado. He spent the summer working with Matthew Witkowski, assistant professor in the Department of Pediatrics at CU Anschutz.

Witkowski said that working alongside Elijah shifted his team’s focus.

Credit: Byron Reed
Elijah Johnson (right) works alongside CU Anschutz assistant professor Matthew Witkowski (left)

“Our lab studies childhood leukemia,” Witkowski said. “And we started to work on the gene TP53 … we actually shifted so much of our focus of the lab toward that because we spoke to Elijah about what he had been through.”

Witkowski said working with Elijah and hearing about his family’s disposition to cancer was a first in his career.

“All of the sudden you’re faced with someone that has to live that reality so what can we do to understand it in our own little way,” Witkowski said. “He’s come in and changed the whole course of our research.”

Johnson said the diagnosis has made his family grow closer through their experience. Johnson said he gets screened regularly and so far, he and his brother are cancer-free.

Credit: Elijah Johnson

“I receive ultrasounds and blood work quarterly, every year, and then annually I do a full body MRI scan,” Johnson said. “Screening is crucial. Screening is what allows us to catch a cancer before it’s too developed to treat.”

Credit: Elijah Johnson
Elijah Johnson (left) and his mom Noelle

Johnson said he’s grateful for the opportunity the CREU program gave him and the time he has to help find a cure.

“I know that it might not be forever, it might not be for as long as I want, or I might not do or achieve as much as I want in life,” Johnson said. “So, I know that’s a possibility with LFS, but I know that in order for me to cope with that, I need to keep trying despite the fear of that.”

To find out more about LFS, click here: www.lfsassociation.org.

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