Sofia Sees Hope Donates $72K+ For Genetic Testing and Research into Inherited Retinal Disease Treatments

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Ledyard, CT (January 13, 2021) — Sofia Sees Hope will donate $72,000 to support research into treatments for inherited retinal diseases (IRDs), including Leber congenital amaurosis (LCA), and to provide free access to genetic testing for those with IRDs.

“Despite having to cancel Dinner in the Dark, our flagship fundraiser, in 2020, we’re grateful that we still had a pretty successful year,” said SSH co-founder and board president Laura Manfre. “The global pandemic made fundraising challenging for all nonprofits, but we were able to pivot with the help of our terrific team, made up of staff, volunteers and our Board of Directors. This allowed us to continue our commitment to funding research into treatments for inherited retinal disease.” 

Manfre noted, “Our contribution this year to research is considerably lower than in the past. While so much funding globally is being diverted due to COVID-19, the need to develop treatments for rare retinal disease is just as urgent as ever. By designating our contribution through Foundation Fighting Blindness, we’re keeping our own operation lean and efficient, allowing us to rely on their vast scientific and research expertise and earmark funding specifically for Leber congenital amaurosis projects, while freeing us up to focus on the other side of our mission of outreach and support for our rare disease community.”  

In addition to supporting research, Sofia Sees Hope continues to fund free genetic testing for individuals with inherited retinal disease through the My Retina Tracker® program, an open access, no-cost genetic testing program for individuals with a clinical diagnosis of an IRD.

The 2020 donation to Foundation Fighting Blindness includes:

  • Development and optimization of AON-based therapies for selected splice defects, Rob Collin, Radboud University Medical Center, the Netherlands – $20,000
  • AAV-Sponge-mediated modulation of microRNA-181a/b: a potential therapeutic approach for Inherited Retinal Disease, Sandro Banfi, Fondazione Telethon, Italy – $20,000
  • Enhancing Metabolism in Photoreceptors with a Modified Arrestin to Treat Retinal Degeneration, W. Clay Smith, University of Florida – $20,000 
  • My Retina Tracker program – $12,000 (making the 2020 total donation slightly more than $20,000)

“This year, we chose to continue contributing to the projects we had previously funded through the Foundation Fighting Blindness, one of our most important partners,” Manfre said. “Given that our raise this year was considerably lower than in the past, although we would have liked to, we did not contribute to anything new.” 

Sofia Sees Hope has supported Dr. Collin’s work for the last few years. Dr. Collin is working with 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.

Dr. Banfi is evaluating inhibition of microRNAs 181a/b as a therapeutic approach (prevention of cell death) in several mouse models of inherited retinal disease. The approach may be beneficial to people with a broad range of retinal degenerative conditions.

Dr. Smith’s goal is to boost glycolysis in photoreceptors to slow degeneration. He is working to accomplish this by delivering a modified arrestin1 protein to photoreceptors in various animal models. This approach is designed to work independent of the disease-causing gene mutation, so it has the potential to help people with a broad range of inherited retinal diseases.

About Sofia Sees Hope

Sofia Sees Hope was founded in 2014 by Elisse Rosen, Laura Manfre and Charles Priebe. Manfre’s and Priebe’s daughter Sofia has Leber congenital amaurosis (LCA). This rare genetic retinal condition is characterized by severe vision loss at birth and leads to total blindness.

The mission of Sofia Sees Hope is to transform the lives of those affected by blindness caused by rare inherited eye disease. The nonprofit organization generates awareness, raises funds for research, and provides outreach, support and education to those affected by LCA and other rare retinal diseases.

About Foundation Fighting Blindness

Established in 1971, the Foundation Fighting Blindness is the world’s leading private funding source for retinal degenerative disease research. The Foundation has raised more than $750 million toward its mission of preventing, treating, and curing blindness caused by the entire spectrum of retinal degenerative diseases including: retinitis pigmentosa, age-related macular degeneration, Usher syndrome, and Stargardt disease. Visit www.FightingBlindness.org for more information.