Sofia Sees Hope Gives $100K For Research and Genetic Testing for Inherited Retinal Disease Patients

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A $100,000 donation from Sofia Sees Hope will support research into restoring vision for patients diagnosed with Leber congenital amaurosis (LCA). The grant will also provide access to genetic testing for those with inherited retinal diseases.

Sofia Sees Hope is a not-for-profit dedicated to finding treatments and cures for blindness caused by inherited retinal diseases (IRDs), including LCA.

The donation was made to Foundation Fighting Blindness, which will funnel the funding to the following:

  • $15,000 – Eric Pierce, M.D., Ph.D., Mass. Eye and Ear, Boston, MA. Project name: Efficacy, Safety, and Toxicity of AAV-Mediated Human RPGRIP1 Replacement Gene Therapy. Dr. Pierce is conducting lab studies in preparation for a clinical trial of a gene therapy based on an adeno-associated virus for people with Leber congenital amaurosis caused by mutations in RPGRIP1.
  • $20,000 – Rob Collin, Radboud University Medical Center, Netherlands. Project name: Development and optimization of AON-based therapies for selected splice defects. 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. AONs work like genetic tape to mask the mutations.
  • $40,000 – Krishanu Saha, University of Wisconsin-Madison. Project name: Gene Editing Nanomedicines to Correct Pathogenic Mutations in the Retina. Dr. Saha will generate nanocarriers of gene editing machinery. These non-viral delivery strategies sidestep the safety issues inherent in viral delivery. His approach will leverage nanoscale assembly of CRISPR-Cas9 components to promote precise gene correction.
  • $25,000 – Foundation Fighting Blindness, My Retina Tracker program. To provide genetic testing and counseling for families.

The $25,000 donation to FFB to support free genetic testing through the My Retina Tracker program brings SSH’s total support of the program to $105,000 since 2017. This is also the second time SSH has supported Dr. Collin’s work, having provided a grant for his work on LCA 10 (CEP290 gene mutation). This project has now been picked up by ProQR, a clinical stage biotech company based in The Netherlands, and they have begun a clinical trial for QR-110, a potentially life-changing therapy for people living with LCA 10 due to the p.Cys998X mutation in the CEP290 gene. The company reported that 60 percent of subjects in the trial demonstrated improvements in visual acuity and their ability to navigate a mobility course. The treatment was also safe for patients.

“Since we founded Sofia Sees Hope at our kitchen table in Ledyard more than five years ago, our goal has always been two-fold,” said Laura Manfre, who started the nonprofit with her husband Charles Priebe after their daughter Sofia was diagnosed with LCA. “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.”

Manfre noted that since SSH began, research has made great strides forward, and in 2017, the first gene therapy for LCA – for the RPE65 mutation – was approved by the US Food and Drug Administration. Since then, dozens of people have received treatment and had some vision restored.

“We have always seen hope,” Manfre said. “But today, there is so much more hope. There are 23 gene-based clinical trials targeting 13 genes, and more than 20 retinal cell therapy trials in progress. Another 100 genes are under investigation in the preclinical pipeline. To be able to help these projects move forward is so meaningful to the full LCA and IRD community.”

David Brint, chairman of the Foundation Fighting Blindness Board of Directors, thanked Sofia Sees Hope for the latest contribution.

“Sofia Sees Hope’s efforts have had so much impact in such a short amount of time,” Brint said. “It’s truly amazing work by Laura Manfre and her organization. We look forward to sharing the scientific achievements from this supported research soon.”

Sofia Sees Hope was able to make this latest donation because of its successful fundraising in 2018, primarily through its signature gala event, Dinner in the Dark, as well as individual contributions to the organization throughout the year. Its first-ever annual appeal added more than $60,000 to its charitable giving for 2018. Matching corporate gifts and other fundraising proceeds made it possible for the organization to round out the contribution to $100,000.

About Sofia Sees Hope

Sofia Sees Hope was founded in 2014 by Laura Manfre and Charles Priebe, whose 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.