Cure Rare Disease’s Rich Horgan Pioneers Customized Medicine to Treat Brother with DMD
By Hawkin Miller – January 20, 2020
Rich Horgan’s younger brother, Terry Horgan, is the inspiration behind Cure Rare Disease, a Boston-based nonprofit Rich established in 2017 to help scientists develop personalized therapies for people with rare diseases.
Terry, 24, has Duchenne muscular dystrophy (DMD), which is the organization’s first focus. Besides Terry, three other patients are in line to receive customized medicine.
Cure Rare Disease is “on the cusp of a major breakthrough,” said Rich, 28, a recent graduate of Harvard Business School.
Scientists partnered with Cure Rare Disease will insert CRISPR activation into the harmless adeno-associated virus (AAV) delivery system early this year. The CRISPR/Cas9 system is a gene editing tool that can be used to modify or correct genetic mutations in patient cells.
The approach will be tested in mice bred with the mutated human version of DMD — the altered gene in people with Duchenne. If all goes well, the next step is getting the therapy to Terry, which the nonprofit says would be the first in vivo, or in the body CRISPR activation ever performed in the United States.
“It’s a cool thing to think about the first part of this journey’s first finish line in dosing Terry,” Rich said. “To be able to give him a bit more independence would be really powerful and give him a lot more joy.”
Two exon-skipping therapies, Exondys 51 (eteplirsen) and Vyondys 53 (goloirsen), both developed by Sarepta Therapeutics, have been approved by the U.S. Food and Drug Administration (FDA) for Duchenne patients with mutations in specific exons — the tiny bits of DNA that contain information to make proteins. In this case, that protein is dystrophin, which is needed for muscles to function properly but is missing or found in very small amounts in people with Duchenne.