Recognizing Rare Disease Day at Spark Therapeutics

Recognizing Rare Disease Day at Spark Therapeutics

Rare Disease Day is traditionally held on the last day of February every year to raise awareness of rare diseases. In celebration of Rare Disease Day 2017, Spark Therapeutics employees gathered to hear from an inspirational panel of members from our patient family community. Laura Manfre, one of the panelists, shared her journey of becoming an advocate for the blind after learning that her daughter, Sofia, was diagnosed with Leber congenital amaurosis (LCA), an inherited retinal disease (IRD), with a defect on the IQCB1 gene.

“I co-founded a non-profit, 501C3, organization called Sofia Sees Hope. It is inspired by my daughter, but our hope is really to bring awareness of inherited retinal disease and LCA, and then really pull together the LCA and inherited retinal disease community. The only way you really have a clear diagnosis of LCA is to know your gene(s). So, the very first step is getting tested. The more we can pull together and drive awareness of the importance of genetic testing and research, the better—hopefully—it will be,” Laura said.

Find out more about Laura’s story at aSharedVision, and check out www.rarediseaseday.org to learn about Rare Disease Day around the world.