Sofia Sees Hope, a nonprofit dedicated to finding treatments and cures for people with Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs), has made a $100,000 donation to the Foundation Fighting Blindness to support therapy development and genetic testing.
Sofia Sees Hope was founded in 2014 by Laura Manfre and Charles Priebe, whose daughter Sofia has LCA, a rare genetic retinal condition characterized by severe vision impairment or blindness at birth. The nonprofit organization generates awareness, raises funds for research, and provides outreach, support and education to those affected by LCA and other IRDs.
“Since we founded Sofia Sees Hope at our kitchen table more than five years ago, our goal has always been two-fold,” says Manfre. “We have always wanted to support research for LCA and inherited retinal diseases, and to save other families the struggle we went through in pursuit of a genetic diagnosis. It took us seven years to secure Sofia’s genetic diagnosis. That shouldn’t happen to anyone.”
“Sofia Sees Hope’s efforts have had so much impact in such a short amount of time,” says David Brint, chairman of the Foundation. “It’s truly amazing work by Laura Manfre and her organization. We look forward to sharing the scientific achievements from this supported research soon.”
The grant to the Foundation will support research for the following projects:
Gene therapy for LCA caused by RPGRIP1 mutations
Eric Pierce, MD, PhD, Mass. Eye and Ear, is conducting lab studies in preparation for a clinical trial of a gene therapy for people with LCA caused by mutations in the gene RPGRIP1.
Development of AON therapies for LCA and IRDs
Rob Collin, PhD, Radboud University Medical Center, Netherlands, is leading a team of scientists to investigate defects in messenger RNA (mRNA) that can lead to inherited retinal disease, and potential therapeutic approaches, such as antisense oligonucleotides (AONs), to correct mRNA defects. AONs work like genetic tape to mask the mutations.
Non-viral gene delivery systems
Krishanu Saha, PhD, University of Wisconsin-Madison, will generate nanocarriers of gene editing machinery. These non-viral delivery strategies sidestep the potential safety issues with viral delivery. His approach will leverage nanoscale assembly of CRISPR-Cas9 components to promote precise gene correction.
Genetic testing through the Foundation’s My Retina Tracker Registry
Patients and families with IRDs who register at www.MyRetinaTracker.org are currently eligible for no-cost genetic testing and counseling.