The Rare Disease Innovations Institute was honored to participate in the 2nd Annual Rare Disease Day Symposium hosted by Syneos Health in Research Triangle Park. Attendees filled the conference room and heard presentations ranging from product development and funding to diagnostic and clinical challenges. Every topic focused on the great needs within the rare disease community, even as the approaches to solutions are varied.
Following a delicious lunch, attendees were warmly greeted by Dr. Nick Kenny, Chief Scientific Officer of Syneos Health. Dr. Kenny provided a review of the 2019 Rare Disease Day Symposium, plus an overview of the topics and panelists for this year’s event. As moderator of the symposium, he offered engaging introductions of the speakers, handled questions from the audience, and kept a close eye on the time.
Speaking to the role of the FDA in rare disease product development, Dr. Erica Torjusen gave a stirring presentation in which she outlined the myriad processes, departments, and steps involved in bringing new products to the rare disease community as quickly and safely as possible. She gave clear examples of how the FDA actively engages patients throughout the process. In addition to sharing memorable experiences, Dr. Torjusen clarified FDA terminology important for those outside the agency to know. In conclusion, she reiterated her availability to those seeking guidance when approaching the FDA about new products for rare disease patients.
One of the major problems faced by many rare disease patients is getting an accurate diagnosis. Often the process takes years, and too often involves misdiagnoses along the way. Dr. Vandana Shashi, PI of the Undiagnosed Diseases Network at Duke University, walked the audience through a wide variety of ways the UDN guides patients and families through the diagnostic odyssey. Because a majority of these undiagnosed patients are thought to have an unidentified genetic disorder, Dr. Shashi and her colleagues evaluate patients with undiagnosed diseases and apply next generation sequencing to obtain diagnoses.
While the audience remained engaged with all of the speakers, they came to a hushed silence during the presentation of Parvathy Krishnan when she relayed her story as the mother of two children with multiple ultra-rare diseases. This family’s situation embodies all of the medical, scientific, and statistical material shared in an information-rich day. The standing ovation given by attendees and fellow program participants was a reminder that the voice of the patient reaches deeply into all aspects of rare disease work.
Conducting research and providing direct medical care are definitely core services needed by rare disease patients, but so is setting marketplace expectations on the value of transformative therapies. Michelle Leeds described crucial projects led by Syneos Health that communicate effectively with a broad audience of stakeholders, particularly patients, patient advocates, and policymakers.
The prospect of finding investors in rare disease research often presents a challenge equal to the scientific component. Dr. Michael Dial translated the complexity of investing in early-stage life science companies and emerging technology into an understandable format. Combining his background as a biochemist and biophysicist with his experience overseeing venture capital funds, he provided examples that aligned with multiple themes of the symposium. His presentation led clearly to the speaker who followed him.
Dr. Arvindan Asokan brought the audience into the lab, describing how his firm blends the fields of protein engineering, RNA biology, and virology to enable gene therapy and gene editing platforms. He carefully explained the benefits of using a virus to create a potentially life saving treatment. In addition, his company, Stride Bio, is an example of a gene therapy startup that received investment funds which help to solidify their financial base.
The panel concluded with a heartfelt presentation by Dr. Sandi Lehrman, speaking not only as a retired physician and researcher, but also as the grandmother of a child with Batten’s disease. Dr. Lehrman put the impacts of rare disease in front of the audience as a starting point.
But she did not leave us in a bleak place. Dr. Lehrman reminded attendees that equally significant factors in dealing with rare disease are the role of a dedicated family, a thoughtful medical team, and the determination to pursue medical treatment, regardless of adversity. Hope resides in all the elements presented throughout the symposium, including the heart of those who care.
During the question and answer session following the formal presentations, Tara Britt gave an exciting update on the expansion of rare disease advisory councils across the USA, and North Carolina’s role as a leader in that work. In addition, she encouraged the attendees to look for ways to include patients and families living in rural areas, where access to services is often limited. She reminded the audience that rare disease work is not successful until everyone is included.
Many thanks go to Dr. Kenny and his team for organizing a stellar event which thoughtfully included plenty of time for networking, a favorite activity regardless of the day’s topic. From the first presentation to the last conversation, the 2nd Annual Rare Disease Day Symposium was a definite success!