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Revolutionary genetic research could change the lives of those with rare diseases

CRISPR
Posted at 9:38 AM, Sep 21, 2021
and last updated 2021-09-21 11:43:34-04

NEW HAVEN, Conn. — Terry Horgan is a 26-year-old who works at Cornell University. He’s very tech savvy. Currently, he gets around in a motorized wheelchair due to a rare disease called Duchenne muscular dystrophy.

Linda Horgan is Terry’s mother.

“When we found out Terry had this, it’s like life left you," Linda said. "It’s like being in an elevator and it just drops.”

Muscular dystrophy is characterized by the progression of muscle weakness throughout one’s life. According to the National Organization of Rare Disorders, muscular dystrophies as a whole are estimated to affect nearly 250,000 individuals in the United States.

“I broke my right or left leg when I was 18 and walked a little bit after that, but it wasn't the same," Terry said. "I had to keep getting the leg fixed and I would break a different leg or kind of just downhill from there.”

It’s because of Terry that his brother, Rich Horgan, was inspired to start Cure Rare Disease, a nonprofit biotech that has pulled together renowned academic researchers and world-class clinicians to develop customized therapeutics to treat Terry’s disease and other related diseases.

“My family, like many others who have been impacted by rare disease, were told there is no treatment," Rich said. "'Go home and spend what time you have with Terri and love him.' For us and my family, that just wasn't a good enough answer.”

For the past couple of years, the researchers with Cure Rare Disease have been developing gene treatments for rare diseases. The treatment specialized for Terry involves CRISPR.

Monkel Lek, assistant professor at Yale University School of Medicine, says CRISPR has revolutionized a lot of genetic research.

“CRISPR is a means or a protein, a little machine that goes to a particular place in the genome," Lek said. "So for rare disease patients, we want to go to where the mutation is or near the mutation to do something corrective.”

With CRISPR, they’re able to edit a person’s DNA to fix the genetic mutation. Lek says he has some "skin in the game" because he also has a form of muscular dystrophy called limb girdle muscular dystrophy.

“I understand the urgency that patients and their families have, rather than just thinking it as an academic pursuit or something to fill in my time between 9:00 to 5:00 because I live with this disease 24/7," Lek said. "I fall over regularly so I can fully empathize with some of the sort of struggles and challenges that patients and their families go through.”

Rich says that right now these genetic treatments are very specialized to each individual. However, through the process, they’ll be creating a library of mutation-specific therapies.

“Besides my brother, we are working on a number of other Duchenne patients," Rich said. "Different mutations than what Terry has, as well as different diseases. So we're working on forms of limb girdle muscular dystrophy, as well as a neurodegenerative disease all through the same framework to answer the question, can we scale this up to more Duchenne patients to other diseases? And how robust is the framework?”

They’re also trying to get insurance on board so these treatments can be covered. Until then, private donations are critical to maintaining the research, manufacturing and dosing for individuals like Terry.

“We think that ultimately everybody deserves a cure regardless of their socioeconomic status, regardless of where they live or who they may know,” Rich said.

For Terry, Duchenne is fatal since it impacts critical organs like the heart and diaphragm. Rich says the treatment should strengthen his brother’s heart and arms giving him more independence and mobility.

Unfortunately, you can’t turn back time in Terry’s case. But for young kids, Rich expects the treatment will make them feel like they never even had the disease.

“These diseases were previously death sentences, and now they're ever so slowly becoming chronic diseases like diabetes, we aren't there yet," Rich said. "But the tools and technology exist to do that, and now we just need to put those together and pave the road so that it's easier for families who come after.”

In the next couple months, they will present an investigational new drug application to the FDA. If all goes as planned, Terry will be dosed before the end of the year, likely to see positive impacts after six to eight weeks of treatment.

“It's a miracle for us," Linda said. "We've waited many years to have hope.”