CRISPR could change the lives of people with rare diseases


NEW HAVEN, Connecticut – Terry Horgan is a 26-year-old who works at Cornell University. He is very tech-savvy. Currently, he uses a motorized wheelchair due to a rare condition called Duchenne muscular dystrophy.

Linda Horgan is Terry’s mother.

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

Muscular dystrophy is characterized by the progression of muscle weakness throughout life. According to National Organization for Rare Diseases, it is estimated that muscular dystrophies as a whole affect nearly 250,000 people in the United States.

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

It was because of Terry that his brother, Rich Horgan, was inspired to start Cure a rare disease, a non-profit biotechnology that has brought together renowned academic researchers and world-class clinicians to develop personalized therapies to treat Terry’s disease and other related conditions.

“My family, like many others who have been affected by a rare disease, learned that there was no cure,” Rich said. “‘Go home and spend the time you have with Terri and love him.’ For us and my family, that just wasn’t a sufficient response.

Over the past two years, Cure Rare Disease researchers have developed gene treatments for rare diseases. The specialized treatment for Terry involves CRISPR.

Monkel lek, an assistant professor at Yale University School of Medicine, says CRISPR has revolutionized much genetic research.

“CRISPR is a medium 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 where the mutation is or near the mutation to do something corrective.”

With CRISPR, they are able to modify a person’s DNA to correct the genetic mutation. Lek says he has a bit of “skin in the game” because he also suffers from a form of muscular dystrophy called girdle muscular dystrophy.

“I understand the urgency of patients and their families, rather than just seeing it as an academic pursuit or something to be completed between 9am and 5pm because I am living with this disease 24/7,” said Lek. “I fall regularly so that I can fully understand some of the kinds of struggles and challenges that patients and their families go through.”

Rich says these genetic treatments are now very specialized for each individual. However, throughout the process, they will create a library of mutation-specific therapies.

“In addition to my brother, we are working with a number of other Duchenne patients,” Rich said. “Different mutations than Terry’s, as well as different diseases. So we are working on forms of girdle muscular dystrophy, as well as neurodegenerative disease in the same setting to answer the question, can we extend that to more of Duchenne’s patients for other diseases? And how robust is the framework? “

They also try to get insurance on board so that these treatments can be covered. Until there, private donations are essential to sustaining research, manufacturing and dosing for individuals like Terry.

“We believe that at the end of the day everyone deserves a cure regardless of their socioeconomic status, regardless of where they live or where they know they are,” said Rich.

For Terry, Duchenne is fatal because it affects critical organs like the heart and the 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 children, Rich expects treatment to make them feel like they’ve never had the disease.

“These illnesses used to be death sentences, and now they’re very slowly becoming chronic illnesses like diabetes, we’re not there yet,” Rich said. “But the tools and the technology are there to do it, and now we just need to put them together and open the road to make it easier for the families who come after.

Over the next few months, they will be submitting 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 effects after six to eight weeks of treatment.

“It’s a miracle for us,” said Linda. “We have waited many years for hope.”

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