About

LAURA MANFRE, CHAIR, CO-FOUNDER

HPE Services – Advisory & Professional Services
Hewlett Packard Enterprise

ELIZABETH BORYSEWICZ, VICE CHAIR

Educational Consultant
State of Connecticut Department of Aging and Disability Services
Bureau of Education Services for the Blind

DANIEL KING, ESQ., SECRETARY

Attorney
Lahan & King Attorneys at Law, LLC

STEPHANIE F. BROWN, TREASURER

Manager
Hoyt, Filippetti & Malaghan, LLC

BILLIE JO DRAKE

Director of Business Operations
Pfizer Inc.

CHARLES PRIEBE, CO-FOUNDER

Project Manager, Campus Planning & Construction
Connecticut College

DAVID SCHULZ

Sr. Director, Retired
Pfizer, Inc.

JEFFREY FINMAN, PH.D.

SVP, Chief of Biostatistics
Cognitive Research Corporation

THOMAS ROBARGE

President
Mystic Financial Group, LLC

ANNETTE TONTI

Managing Director
RIHub

JEAN BENNETT, PH.D., M.D.

University of Pennsylvania

ELIZABETH PITE

Beth Pite Consulting

SUSETTE TIBUS

Owner of Simply Majestic

ELISSE ROSEN

Executive Coach & Management Consultant

BEN SHABERMAN

Vice President, Science Communications, Foundation Fighting Blindness

CHARLES BUNNELL

Chief of Staff and External Affairs for Mohegan Tribe

CRISTINA MANFRE

Senior Associate and Partner at Cultural Practice, LLC

EMILY PLACE, M.S., LCGC

Senior Genetic Counselor
Ocular Genomics Institute, Massachusetts Eye and Ear Institute

DAVID WILLIAMS

President & CEO at Genesys Works

FOUNDERS CIRCLE

Elizabeth & George Adrian, O.D.
Eyecare Expressions
The Manfre Family
Mystic Lions Club
Elizabeth Pite & Paul McCary
Franco & Luigi Simeoni

Silvia Bard
Mary Liz James
Laura Manfre & Charles Priebe
Mystic Aquarium
Ruthmary & Edward Priebe
Susette Tibus & Chuck Sneddon

Patricia & Stephen Coan, Ph.D.
Jeanette Jezick, O.D. & Peter Wilbanks
Beth & Mike Mondello
Nancy & Christopher Nagy, Ph.D.
Elisse Rosen & Paul Turetzky
Paula & Dennis Widstrom

She was a happy and otherwise normal kid, except the more mobile she became, the more she would fall, walk into things, and trip. After countless doctor visits and tests, Sofia was clinically diagnosed with Leber congenital amaurosis (LCA). This rare degenerative genetic condition causes the cones and rods in her retina to deteriorate and eventually they will stop working altogether. Her prognosis is complete blindness.

We were told the best we could hope for was that the disease would progress slowly. Aside from checking her vision every few years to monitor progression, there wasn’t much else to do medically. Genetic testing was recommended, in the chance there might be treatment for a specific gene variation. For more than seven years we underwent genetic testing. In 2012, thanks to Dr. Eric Pierce and his team at Massachusetts Eye and Ear, Sofia finally received a genetic diagnosis: IQCB1/NPHP5.

EVERYTHING HAS CHANGED

Since then, nearly 30 genes associated with LCA have been identified. In 2017 the U.S. approved gene therapy treatment for one LCA gene, RPE65. Multiple treatments are in clinical trials, and research is proceeding for others.

In 2013, working with a few other families, we set ourselves the task of raising funds to develop a cure for blindness caused by Sofia’s gene. Thanks to the generosity of our family, friends and people across the globe we have never even met, we raised more than $47,000 in six months. That enabled us to support two labs working on cures for our gene.

FOUNDED IN 2014, TO SUPPORT AN ENTIRE COMMUNITY

In January of 2014, we established a 501(c)3 organization to support diagnosis, treatment and cures for all children and adults living with blindness caused by any of the genes related to LCA. This work also helps those diagnosed with other rare inherited retinal diseases, including, but not limited to, achromatopsia, Stargardt’s, choroideremia, Usher syndrome, retinitis pigmentosa and X-linked retinoschisis (also known as juvenile retinoschisis).

Since 2015, Sofia Sees Hope has contributed more than $450,000 to fund research into treatments for IRDs, and to support the free genetic testing and counseling program managed by the Foundation Fighting Blindness.

IN 2021, A NEW NAME

As a rare disease that is not widely known or understood, LCA can often create feelings of isolation, frustration and helplessness. When we founded the organization, our aim was to not only help Sofia, but everyone who is affected by blindness caused by LCA and other rare inherited retinal diseases.

In 2021, Sofia turned 18, graduated from high school, and is enrolled in college. She is beginning the next chapter in her life. Similarly, our organization has grown significantly since we first began, and we thought it was a good time to launch the next chapter of Sofia Sees Hope. Working with a consultant, we rebranded the organization with a new name and logo to reflect our growing global impact: Hope in Focus.

We are an organization that adeptly moves between advocacy and science, keeping those we serve in focus each step of the way. We are bridging the unnecessary chasm between the people who inform the science, and the science that transforms the people. Hope is born of connecting these two sides of the same story.

Our mission in this work remains unchanged. We continue to generate awareness, raise funds for research, and provide outreach, support and education to those affected by LCA and other rare retinal diseases. We are proud of our past, optimistic about our future, and celebrate sharing this meaningful work with each and every one of you. Onward, with Hope in Focus!

— Laura Manfre & Charles Priebe