2018 LCA Family Conference Presentations

 In Blog

On October 5-6, 2018, Sofia Sees Hope held its first Family Conference for LCA and IRD families and caregivers. Thank you to all who attended and thank you to our sponsors, who made it all possible!

This event was the culmination of our first five years of work and fulfills our mission to connect LCA  and IRD patients and families to researchers, industry experts and others who are keenly interested in LCA and and rare inherited retinal diseases. The goal of this conference was to get you excited about advances in research, deepen your understanding of the roles various organizations play in developing treatments, and provide insight into how an active patient community can support and accelerate treatment.

Below is the description of the panels and included are the presentations given by some of the speakers.

IRD Milestones: Reasons to Be Excited

Dr. Brian Mansfield, Senior Vice President of Research, Foundation Fighting Blindness

At no time in history has there been more promising research applied to genetically inherited eye disease.
Hear from our partners at the Foundation Fighting Blindness about how much easier it is today to access
genetic testing and genetic counseling and the exciting research and trials that are underway.

Download the presentation.


The Road to Treatment: Understanding How Therapies Are Developed

Moderator: JEFFREY FINMAN, Jupiter Point Pharma Consulting, LLC, Board Member, Sofia Sees Hope
Panelists: • DR. WILEY CHAMBERS, Supervisory Medical Officer in the Office of New Drugs at the FDA
• JENNIFER HUNT, Vice President of Clinical Operations, Editas Medicine
• TAMI MOREHOUSE, Phase 1 RPE65 Trial Subject RPE65 genetic therapy trial

From research to federal approval, what does it take to develop and approve a new treatment for rare disease? We’ll explore the regulatory, clinical, and industry aspects so you have a deeper understanding of what is involved in developing treatments, including how rare disease is different.

Download Dr. Chambers’ presentation.

Download Editas presentation.


Thank You to these speakers and organizations for their participation!

  • Kristen Angell, Associate Director, Advocacy, National Organization for Rare Disorders (NORD)
  • Beth Borysewicz, TVI for State of Connecticut and Sofia Sees Hope Board Director
  • Dr. Wiley Chambers, Supervisory Medical Officer in the Office of New Drugs at the U.S. Food and Drug Administration
  • Michael & Sela Cornell, Father and daughter from Chicago
  • Jill Dolgin, Head of Patient Advocacy, AGTC
  • Jeffrey Finman, Jupiter Point Pharma Consulting, LLC and Sofia Sees Hope Board Member
  • Jennifer Hunt, Vice President of Clinical Operations, Editas Medicine
  • Dr. Brian Mansfield, Senior Vice President of Research, Foundation Fighting Blindness
  • Tami Morehouse, Phase 1 RPE65 Trial Subject RPE65 genetic therapy trial
  • Jamie Ring, Head of Patient Advocacy, Spark Therapeutics