Supporting the LCA and rare retinal disease community
We see a cure for blindness.
What is Leber Congenital Amaurosis (LCA)?
LCA is a rare inherited retinal disease characterized by severe vision loss at birth. While some children are born with little or no vision, others may have significant vision loss in the first few years of life, stable vision for a period of time, and then eventually complete vision loss as the retina deteriorates into total blindness.
What We Do
Founded in 2014, Sofia Sees Hope is a nonprofit 501(c)3 patient advocacy organization dedicated to generating awareness, raising funds for research, and providing support, education and outreach to the LCA and rare inherited retinal disease community.
Thank You to These Organizations
for their Ongoing Commitment to Sofia Sees Hope.
Let’s Get Social!
Our quarterly newsletter is out! Read and download it here: https://t.co/A9j33GIRxw Please sign up to receive our newsletter, & email updates: https://t.co/BjQnLEk8Pc @fightblindness #LCA #IRD https://t.co/JBaqtlZm7U
Big news from @Editasmed: "The LCA10 (CEP290 gene) program is on track to be the first in vivo CRISPR-based genome editing medicine with patient dosing expected in the second half of 2019.” #LCA #IRD #genetherapy #CRISPR https://t.co/vKlIlKBTEo
We would be grateful if you were able to donate today - 100% of money raised by our year-end appeal will provide families access to free genetic testing and counseling. Thank you for your support. We are grateful for the community we have created here. https://t.co/PWfeDX0gk3
Our quarterly newsletter is out! In this issue, meet Mikayla Larson, a 30-year-old mother of 3 young children living with a rare form of Leber congenital amaurosis. Our young adult columnist Jack McCormick tackles the question, "Should You Tell Others About
Your Vision Loss?" Ben Shaberman of Foundation Fighting Blindness provides insight into the elusive genes research effort, and a complete calendar of upcoming conferences and seminars!
Read and download it here: bit.ly/2WaGdjU
Please sign up to receive our newsletter, and our email updates (you can also read back issues of the newsletters): sofiasees.org/resources/newsletter/
More very big news for the LCA community, coming from Editas Medicine, presented at the J.P. Morgan Healthcare Conference in Cambridge, Mass., earlier this month:
"The LCA10 (CEP290 gene) program is on track to be the first in vivo CRISPR-based genome editing medicine with patient dosing expected in the second half of 2019. EDIT-101 is an experimental CRISPR genome editing medicine being investigated for the treatment of Leber congenital amaurosis 10 (LCA10). It is set to be the first in vivo, or editing inside the body, CRISPR-based medicine administered to people anywhere in the world. In the Phase 1/2 clinical trial, Editas Medicine and Allergan plan to initiate patient screening mid-year and begin patient dosing in the second half of 2019, enrolling 10-20 patients in the U.S. and Europe.
“At Editas Medicine, we are pioneering the possible by harnessing the power of genome editing, engineered cell therapy and AAV gene delivery to develop a pipeline of genomic medicines for people living with serious diseases,” said President and CEO Katrine Bosley. “With our recent successes, including the FDA’s acceptance of our IND for EDIT-101, we are entering 2019 with strong momentum towards achieving our EM22 goals. We look forward to entering the clinic later this year, and we hope to transform the lives of people living with LCA10.”
Learn more here: www.editasmedicine.com/pipeline/
editasmedicine.com
We are working to translate the promise of genome editing into a broad class of genomic medicine that have the potential to transform lives.