The Common Voice of Rare Disease

The Rare Disease Innovations Institute is proud to bring you “The Common Voice of Rare Disease”, our blog which will share stories of vision, impact and success around rare disease, nationally and abroad. Stayed tuned for our first post coming soon and be sure to return often for the latest updates. Want more? Be sure to subscribe at the bottom of the page to be notified with each new post!

Rare Disease in the News

(Left to Right) Loretta Boniti, host
Tara Britt, NC Rare Disease Advisory Council, Assoc. Chair
Parvathy Krishnan, Dir. of Patient Engagement, Rare Disease Innovations Institute

Rare Disease is in the news! In Focus, a Spectrum News public affairs program, will feature North Carolina rare disease experts on Sunday, April 5, 2020 at 11:30 am. Loretta Boniti, host of In Focus, will interview Tara Britt about building rare disease coalitions and Parvathy Krishnan about patient advocacy.

Additional program guests include medical researchers and NC legislators who have backed rare disease bills.

In Focus, the top rated Sunday morning political talk show in Raleigh, airs new episodes every Sunday at 11:30 am and re-airs them at 8:30 pm.

There was plenty of conversation before and after the show was recorded. Rare disease proponents are passionate about their work. Enjoy some candid photos from behind-the-scenes.

Top Left: Loretta Boniti interviews NC Rep. Becky Carney and NC Senator Vickie Sawyer. Bottom Left: Charter Communications Government Affairs staff are focused on Tara and Parvathy’s interview. Right: Tara Britt and NC Rep. Becky Carney discuss the NC Rare Disease Advisory Council.

Rare Disease Day 2020 at Syneos Health

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.

Nick Kenny, PhD
Chief Scientific Officer
Syneos Health

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.

Erika Torjusen, MD, MHS
Director, Rare Pediatric Designation Program, FDA

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.

Vandana Shashi, MBBS, MD
Professor of Pediatrics
PI of UDN, Duke University

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.

Parvathy Krishnan, Dir. of Patient Engagement
Rare Disease Innovations Institute

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.

Michelle Leeds, Strategist, Reputation and Risk Management
Syneos Health Communications

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.

Michael Dial, PhD
Hatteras Venture Partners

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.

Arvindan Asokan, PhD
Co-Founder & Director
Stride Bio

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.

Sandi Lehrman, MD
Pharma “Veteran”
Champion for Pediatric Rare Diseases

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.

Tara Britt
Associate Chair, NC Rare Disease Advisory Council
Founder & President, Rare Disease Innovations Institute, Inc.

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!

Rare Disease Day 2020 at IQVIA

Rare Disease Day 2020 kicked off in Raleigh/Durham, NC with a packed house at IQVIA, who hosted “Patient Perspectives on Clinical Research in Rare Disease” for their employees. The panel of patients and patient advocates was co-moderated by Dr. Jeffrey Keefer, Head of the Pediatric and Rare Disease Center of Excellence at IQVIA and Tara Britt, Founder and President of the Rare Disease Innovations Institute, Inc.

Dr. Keefer kicked off the event by reminding everyone of the profound significance of input from patients and patient advocates on clinical research and described some of the ways that is addressed at IQVIA. He graciously set the stage for each of the panelists.

Rare and ultra-rare diseases were represented by the following panelists: Ty Alexander Myatt, Fabry disease; Justina Williams, sickle cell disease; Jenny Wilkinson, cystic fibrosis; Meredith Huml, facioscapulohumeral muscular dystrophy; and Parvathy Ramen Krishnan, Lynch syndrome and constructional mismatch repair deficiency syndrome. Each presenter shared compelling stories of their journeys through diagnosis, the search for services, and a multitude of treatments, while maintaining hope for an improved quality of life. Regardless of their specific disease, panelists encouraged the audience to include patients and/or advocates in every part of a clinical trial.

Employees were encouraged to picture patients benefitting from the work of everyone who contributes to a clinical trial, regardless of their role. In addition, researchers and clinicians must be asking patients the right questions. Panelist Parvathy Krishnan, Director of Patient Engagement for the Rare Disease Innovations Insitute said, “It doesn’t matter what your brochure looks like if you don’t ask the right questions.”

Patient involvement also hinges on access to services. Highlighting both awareness and access, Tara Britt provided an eye-opening update regarding the state of rural health care in North Carolina and its impact on rare disease patients. Rare disease has no geographic or socio-economic boundaries. 

IQVIA employees heard a resounding message of appreciation for their tireless work, and the presenters heard enthusiastic applause for their nonstop work of living with rare disease.

Panelists, moderators, and event organizers joined arm-in-arm to express appreciation to the employees attending the event and to everyone working to improve the life of rare disease patients. For additional information, please see the IQVIA LinkedIn post.