‘Let’s Chat About…’

2.13.24

Let’s Chat About … Bespoke Gene Therapy Consortium

An introduction to the Bespoke Gene Therapy Consortium (BGTC) with Brad Garrison, Senior Project Manager of BGTC, Foundation for the National Institutes of Health. Brad provides an overview of the program model and discusses its benefits for rare diseases. Snehal Naik, Spark Therapeutics, will also joined us to discuss the impact of this public-private partnership from an industry perspective. Lastly, we heard from Artur Cideciyan, Research Professor of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, on the NPHP5 project and Aykut Demirkol, Post Doctorate Fellow, Columbia University, on the CNGB1 project. Ben Shaberman, Vice President of Science Communications, Foundation Fighting Blindness moderated the discussion.

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3.7.23

Karmen Trzupek

Senior Director of Scientific Programs
RARE-X

Let’s Chat About … RARE-X

Join us for an introduction to RARE-X with Karmen Trzupek, Senior Director of Scientific Programs. We’ll talk about RARE-X’s mission and goals, as well as their recent merger with Global Genes.

About Karmen Trzupek

Karmen Trzupek currently serves as the Sr Director of Scientific Programs at RARE-X, a position that enables her to bring together her passion for supporting rare disease communities and her experiences with academia, telemedicine, advocacy, and industry. Karmen has a long background and interest in inherited retinal diseases, and previously worked at the Casey Eye Institute in Portland, Oregon, providing counseling and education to patients and families with inherited eye diseases and coordinating clinical and molecular research. She developed the first nationwide telemedicine program for ocular genetic counseling and genetic testing at InformedDNA, and co-developed both pharma- and advocacy-sponsored genetic testing programs, as a consultant to Spark Therapeutics and the Foundation Fighting Blindness. She also spent more than 10 years serving on the Board of Directors for the Usher syndrome Coalition and the Hear See Hope foundation. At Rare-X, Karmen drives collaborative programming and partnerships to maximize the Rare-X data platform for the advancement of patient-driven research and industry-supported therapeutic pipelines.

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10.27.22

Kara Fick & Dr. Shannon Boye

Head of Patient Advocacy
Founder and Director
Atsena Therapeutics

Let’s Chat About … Atsena Therapeutics’ work in LCA

Kara Fick, Head of Patient Advocacy, and Shannon Boye, Founder and Director introduce Atsena Therapeutics. We discuss Atsena’s approach to gene therapy and their ongoing work in LCA

About Kara Fick

Kara is the head of Patient Advocacy and Medical Affairs at Atsena Therapeutics. She has been working as a patient advocate for rare disease in the biotech world for nearly a decade and is passionate about bringing the patient voice, perspective, and expertise to the table. At Atsena, Kara strives to bridge the gap between the science of innovative therapies and the daily needs of individuals living with rare diseases. She also works to better understand the current barriers to diagnosis, treatment, and management of rare disease and ways that we can better address those hurdles with patients and clinicians alike. Kara holds a BS in Biomedical Sciences from Texas A&M University.

About Dr. Shannon Boye

Dr. Shannon E. Boye is a Professor and Associate Chief of the Division of Cellular and Molecular Therapy in the University of Florida’s Department of Pediatrics. She received her BS in marine biology with a minor in chemistry from Fairleigh Dickinson University in 2001. She graduated with a PhD in Neuroscience from the University of Florida in 2006. Her thesis work involved developing viral vectors for the treatment of retinal disease, specifically GUCY2D Leber Congenital Amaurosis (LCA1). Dr. Boye has authored over 60 peer-reviewed manuscripts, multiple textbook chapters, is actively involved in grant and manuscript review, and is the recipient of several major awards. Shannon and her husband Sanford are the founders of Atsena Therapeutics.

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Kathleen Hayes

6.30.22

Kathleen Hayes

Senior Account Manager
SmithSolve

Let’s Chat About … LCA Community Survey Results

Kathleen Hayes, MPH, Senior Account Manager at SmithSolve LLC, an agency specializing in rare disease communication. Kathleen discusses the results of the LCA community survey that was distributed in April and May 2022.

About Kathleen Hayes

Kathleen brings over a decade of public health experience, drawing on a rich background in federal government, healthcare, and non-profit organizations. Her diverse background allows her to bring a unique perspective to health communications and cultivate enduring relationships with internal and external stakeholders.

Kathleen translates complex science into stories and messages that can be easily understood by patients, advocates, the public, and other audiences. Her project management and forward-thinking strategic planning skills earned her a reputation of doing hard things well.

Prior to joining SmithSolve, Kathleen worked at the U.S. Food and Drug Administration (FDA) as a Designated Federal Officer (DFO) managing two high-profile advisory committees. This work involved adhering with regulatory directives and communicating appropriate information to the public to maintain transparency and support education.

Before her tenure at FDA, she worked as a health scientist at the Centers for Disease Control and Prevention (CDC). In her roles in the Office of Science and in the National Center for Emerging and Zoonotic Infectious Diseases, she coordinated and managed data quality initiatives and helped to bring the latest technologies to address public health needs across the CDC. She organized and executed a variety of health communication activities, developed communication materials, and disseminated communication tools and public health messages to multiple audiences.

Written summary of results

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Daniel Chung

6.21.22

Daniel Chung, DO, MA

Chief Medical Officer
SparingVision

Let’s Chat About … Gene Independent Therapy for IRDs

Daniel Chung, DO, MA, Chief Medical Officer for SparingVision. Dr. Chung discusses gene therapy highlighting their gene independent approaches using rod derived cone viability factor and the GIRK strategies.

About Daniel Chung

Dr. Chung is the Chief Medical Officer for SparingVision, an ocular genomic medicine company, focusing on gene agnostic gene therapy and CRISPR gene editing approaches to combat blinding diseases. Prior to his recruitment to SparingVision, Dr. Chung was the Ophthalmology Therapeutic Leader for Spark Therapeutics, Where he led the medical affair group and contributed to areas of clinical development and operations, marketing, commercial, patient advocacy, pre-clinical research and development and business development. Dr. Chung was intimately involved with the development of Luxturna, the first gene therapy approved by the FDA and EMA for use in a blinding genetic disease.

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Ben Shaberman

4.26.22

Ben Shaberman

Senior Director, Scientific Outreach & Community Engagement
Foundation Fighting Blindness

Let’s Chat About … Advancing Treatments into Clinical Trials: Opportunities and Challenges

Ben Shaberman, Senior Director, Scientific Outreach, Foundation Fighting Blindness discusses three innovative ways the Foundation Fighting Blindness is working to move promising therapies for inherited retinal diseases into and through clinical trials. These programs are its Translational Research Acceleration Program, RD Fund (venture philanthropy fund), and BioBonds legislation which has been introduced in Congress. Ben has been reporting on retinal science and research for the Foundation for nearly 17 years. In addition to writing for FFB’s electronic and print publications, he presents the latest scientific advancements at local and national events for patients and families, and conducts a variety of science training activities for staff and constituents. He also recently launched the Eye on the Cure podcast series which is available on most major podcast platforms. Ben enjoys working with constituents one-on-one to help them understand their retinal disease and the research underway that may benefit them. He also leads the company’s outreach to eye care professionals throughout the US.

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3.24.22

Ben Yerxa

Co-Founder & President
Opus Genetics

Let’s Chat About … Opus Genetics

Ben Yerxa, PhD, Co-Founder & President of Opus Genetics speaks about the Opus Genetics’ business model, pipeline, manufacturing process, and their focus on tried and true methods.. Founded in 2021, Opus Genetics is a patient-first, science-driven gene therapy company tackling manufacturing obstacles standing in the way of treatments for ultra-rare blinding conditions.

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Beth Borysewicz

3.16.22

Beth Borysewicz

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

Let’s Chat About … Self-Advocacy and Supporting Your Child’s Education

Beth Borysewicz, Hope in Focus Board Director and Educational Consultant, State of Connecticut Department of Aging and Disability Services with Bureau of Education Services for the Blind. Beth found her passion working with the blind and visually impaired community when 3-year Sofia joined her preschool classroom. Beth now has more than 16 years of experience working with students across Connecticut. Beth discusses how to leverage the expanded core curriculum for independent living skills, supporting your child’s transition to adulthood, and sharing best practices for self-advocacy in the classroom and beyond.

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Daniel DeBoer

1.18.22

Daniel DeBoer

Founder and Chief Executive Officer
ProQR Therapeutics

Let’s Chat About … ProQR’s work in treatments for inherited retinal disease

Daniel de Boer is Founder and Chief Executive Officer of ProQR, which was incorporated in 2012. Daniel is a serial entrepreneur and passionate advocate for rare disease patients. After one of his children was diagnosed with a rare disease, he started ProQR to develop RNA therapies for rare diseases. Under Daniel’s leadership, ProQR developed a platform that yielded a diversified pipeline of potential treatments for rare diseases and raised more than $400M in funding, including an IPO on Nasdaq. Before founding ProQR, Daniel was founder and Chief Executive Officer of several technology companies. Daniel is also co-funder and strategic advisor to Amylon Therapeutics and Wings Therapeutics, strategic advisor at Frame Therapeutics, Meatable, Algramo and a member of the advisory board at the Termeer Foundation. In 2018 Daniel was named “Emerging Entrepreneur of the Year” by EY. In 2019 Daniel was selected for the Young Global Leader program at the World Economic Forum.

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Michel Michaelides

12.08.21

Michel Michaelides, MD

Head of Clinical Ophthalmology
MeiraGTX

Let’s Chat About … gene therapies for LCA

Dr. Michaelides is Head of Clinical Ophthalmology at MeiraGTX. Mike is a founding member of MeiraGTx and a Professor of Ophthalmology at the  University College London Institute of Ophthalmology in the Dept. of Genetics. He is a Consultant Ophthalmologist at Moorfields Eye Hospital (MEH) in the Depts. Of Inherited Eye Disease, Medical Retina and Paediatric Ophthalmology.

He is currently the principal investigator of three active interventional clinical trials and has 10 on-going ethically approved studies, including six in-house natural history studies and a multi-centre international natural history study.

Mike was awarded a Medical Retina and Genetics clinical fellowship at MEH (2008-2009) and a combined Ophthalmic Genetics and Paediatric Ophthalmology Clinical & Research fellowship at Casey Eye Institute, USA (2009-2010). He is a recipient of a career development award from the Foundation Fighting Blindness (USA) – an award which is rarely given to non-US applicants; and has gained membership of the highly prestigious Macular Society and Retina Society in the USA.

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Dr. Edmond Chen

10.18.21

Edmond Chen, MD

Vice President, Clinical Development-Ophthalmology and Hematology
Editas Medicine

Let’s Chat About … CRISPR and gene editing technology

Dr. Chen is Vice President, Head of Clinical Development at Editas Medicine, overseeing an exciting and emerging portfolio that spans the therapeutic areas of hematology, oncology, ophthalmology, and neuroscience. Under his leadership, Editas has advanced EDIT-301 into the clinic for Sickle Cell Disease and Beta-Thalassemia. As a physician executive with 20+ years of combined clinical and industry experience, he has a track of success at companies, including Merck and Bayer. His therapeutic area and drug development expertise is deep and diverse, from rare disease and indications such as bronchiectasis, vasculitis, and pulmonary hypertension to large cardiovascular areas including congestive heart failure, thrombosis, and therapeutics for primary and secondary cardiovascular prevention.

He earned his M.D. at the University of California, San Francisco School of Medicine where he subsequently trained and practiced in internal medicine and cardiology. He holds a BA with Honors in Molecular and Cell Biology, Neurobiology, from the University of California, Berkeley.

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Jill Dolgin

9.29.21

Jill Dolgin, PharmaD

Executive Director, Global Patient Advocacy
AGTC

Let’s Chat About … The importance of the patient voice in rare disease

Jill Dolgin, PharmD is the Head of Patient Advocacy at Applied Genetic Technologies Corporation (AGTC) which is a clinical-stage biotechnology company developing transformational genetic therapies for inherited retinal diseases. Dr. Dolgin leads the patient and professional engagement strategy to drive disease awareness and clinical trial recruitment efforts for the AGTC pipeline. She is responsible for incorporating the voice of the patient throughout drug development and corporate culture. She has over 20 years of global biopharmaceutical experience in Medical Affairs, Corporate Communications, Patient and Professional Advocacy, and Public Policy.

Her role within the company is to ensure that the needs of the patients are considered and incorporated into every aspect of drug development. Externally, Jill works with patient advocacy groups to educate patients and families about the importance of participating in clinical trials, gene therapy and the importance of “getting your voices heard” to help consumers, healthcare professionals, and policy makers understand your challenges in living with your disease. Dr. Dolgin earned a Doctorate in Clinical Pharmacy from the University of the Sciences at Philadelphia and a Bachelor of Science degree in Pharmacy from The Ohio State University.

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Tami Morehouse

6.16.21

Tami Morehouse
Jack McCormick

Ambassadors
Hope in Focus

Let’s Chat About … The Importance of Self-Advocacy

Jack McCormick and Baloo

In the world of rare disease, self-advocacy can be so important. But it is also overwhelming, intimidating, and scary. Tami Morehouse and Jack McCormick both have Leber congenital amaurosis due to mutations in their RPE65 gene. They joined us for a conversation about their own self-advocacy journeys.

Tami made research history when, at age 44, she participated in a clinical trial for gene therapy for LCA2 (RPE65). Ultimately, Spark Therapeutics developed the drug that was marketed as LUXTURNA® following Federal Drug Administration approval in December 2017. Tami volunteers in Hope in Focus’ Family Connections program, which connects people within the LCA community to share information and provide support. She works as an information and referral specialist for 211 of Ashtabula County, Ohio.

Jack graduated from Wilfrid Laurier University in Waterloo, Ontario, in 2018. He is a passionate advocate for inclusion and accessibility on all fronts. He initially tried to hide his blindness but that all ended when he got Jake, his beloved guide dog. In college he founded Eye To Eye, a student club whose goal is to illuminate stigma associated with vision impairments. He volunteers with Fighting Blindness Canada, including working on the 2018 Young Leaders Summit. He works in human resources for a major software company.

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Todd Durham

5.13.21

Todd Durham

Vice President, Clinical & Outcomes Research
Foundation Fighting Blindness

Let’s Chat About … The Importance of Patient Registries and My Retina Tracker

Todd Durham is the Vice President, Clinical & Outcomes Research at the Foundation Fighting Blindness, a national non-profit that funds research to treat and cure inherited retinal diseases. In his current role, Todd is responsible for directing the Foundation’s Clinical Consortium of retinal experts, developing strategies to enhance product development, partnering with industry, and providing technical input on partnered programs and investment decisions. Todd has over 25 years of drug development experience. Prior to his current position, he contributed to research on numerous marketed products as Director of Biostatistics with IQVIA’s Real World Evidence Solutions, was a doctoral fellow with Bristol Myers Squibb, and worked in various statistical and leadership roles for Novan, Inspire Pharmaceuticals, Quintiles, and as a self-employed consultant. Todd earned a BSPH and MS in biostatistics and a PhD in health policy and management (Decision Science and Outcomes Research) from the UNC Gillings School of Global Public Health.

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Jonathan Stokes

4.19.21

Jonathan Stokes

Director, Patient-Centered Outcomes Research
Abbvie

Let’s Chat About … Why Natural History and Patient Outcome Studies Matter

Jonathan Stokes has a devoted interest in understanding and bringing to light the patient voice and perspective, with over 16 years of research study design and implementation experience. His experience is primarily in health outcomes research; specifically, the development and evaluation of clinical outcomes of assessment (COAs) for use in clinical trials intended to substantiate product labeling goals, as well as use of COAs in real world clinical practice. Areas of focus include the evaluation of cardinal signs and symptoms of disease, health-related quality of life, improvements and activation in treatment adherence, understanding unmet need, and exploring the burden of disease. Jonathan holds an MBA from Northeastern University.

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Emily Place

3.15.21

Emily Place

Licensed Genetic Counselor and Research Study Coordinator
Massachusetts Eye and Ear

Let’s Chat About … The Ins and Outs of Genetic Testing

Emily Place graduated from the University of St. Thomas with a Bachelor of Arts in Biology. She went on to earn her master’s degree in Human Genetics from Sarah Lawrence College. Prior to working at the Ocular Genomics Institute, she worked as a pediatric genetic counselor at The Children’s Hospital of Philadelphia.

Emily joined the OGI in 2011, where she provides risk assessment and genetic counseling services to families with inherited retinal dystrophies. She also serves as the study coordinator for the research study of molecular genetics of inherited retinal dystrophies.

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Wiley Chambers

2.16.21

Wiley A. Chambers, MD

Supervisory Physician, Division of Ophthalmology
U.S. Food and Drug Administration

Let’s Chat About … What it takes to receive approval for a new treatment for rare disease

Wiley A. Chambers, MD, is Supervisory Physician in the Division of Ophthalmology at the Food and Drug Administration (FDA). After receiving an undergraduate degree from Colgate University, Dr. Chambers completed medical school and a residency in Ophthalmology at The George Washington University School of Medicine and Health Sciences in Washington, DC. He is currently a Clinical Professor of Ophthalmology and Adjunct Assistant Professor of Computer Medicine at The George Washington University. He joined the FDA in 1987, as a primary reviewer for ophthalmic drug products and in 1990 became a Supervisory Medical Officer for Ophthalmologic Drug Products. In this capacity, Dr. Chambers has supervisory responsibility for the clinical review of ophthalmologic drug products and ophthalmic therapeutic biologic products submitted to the Center for Drug Evaluation and Research. Additionally, Dr. Chambers is the recipient of numerous Public Health Service, FDA and Center for Drug Evaluation and Research awards for his work with the FDA and he has served as the American Academy of Ophthalmology’s Delegate to past United States Pharmacopeia Conventions.

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1.27.21

Ben Shaberman

Senior Director, Scientific Outreach & Community Engagement
Foundation Fighting Blindness

Let’s Chat About … What’s in the therapy pipeline for Leber congenital amaurosis

For 16 years, Ben has been reporting on retinal research for all of FFB’s electronic and print publications. In addition, he presents the latest scientific advancements at local and national events for patients and families, and conducts various training activities for staff and constituents. He enjoys working with constituents one-on-one to help them understand their retinal disease and the research underway that may benefit them. Ben also leads the company’s outreach to eye care professionals throughout the United States.

Ben has written three books – Retina Boy, Jerry’s Vegan Women, and The Vegan Monologues – all published by Loyola University (Maryland). He earned a Master of Arts in writing from Johns Hopkins University, a Master of Science in systems management from the University of Maryland, and a Bachelor of Science in computer information science from Cleveland State University.

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