doctor's instruments on notebook with muscular dystrophy written on it
Mary Parker

E22: Brother Helping Brother

A conversation with Rich Horgan and Karen Morales about their personal odyssey to cure Duchenne muscular dystrophy 

What would you do for your family if they were affected by a rare disease? If you are Rich Horgan, who has seen three generations of his family affected by Duchenne muscular dystrophy, you set up a nonprofit biotech to rewrite not only your family’s story, but also your brother’s genes.

In 2017 Rich Horgan founded Cure Rare Disease in order to help his younger brother Terry and patients like him. The biotech is committed to finding cures for rare disease patients who are not covered by existing drugs. Terry, for example, was too old to participate in clinical trials for other Duchenne treatments, so Rich had to help by creating his own.

Years of effort are about to pay off. This year, Cure Rare Disease will begin trials of their CRISPR/Cas9 based therapy for Terry and a few other patients that share the same mutation. The drug, developed with the help of Dr. Timothy Yu from Boston Children’s Hospital, will be tested in mice before entering clinical trials. If it is successful, it could dramatically change the quality of life for Terry and the other patients, while confirming Rich’s lean, efficient, and intensely collaborative model for customized drug development.

“If we're going to paddle across the river, everybody needs to be paddling,” he said.

Along the way Rich has gained valuable help from people like Karen Morales, who guides the marketing campaign for Cure Rare Disease. Karen herself has a rare form of muscular dystrophy and is the founder of the digital marketing company Marketing Magnet. She is one of the many uniquely qualified people that Rich has managed to bring to his cause, and she joins Rich in our discussion of their work in this episode of Sounds of Science.

At Charles River, we have validated the mdx mouse model for Duchenne muscular dystrophy studies using a customizable multi-modal approach including biochemical markers, gait analysis and imaging. In addition, our in vitro expertise in DMD and other muscular dystrophies focuses primarily on cell-based assays in human primary myotubes that are differentiated using an established protocol from myoblasts.