RNE Annual Conference 2023
Power of Community
2023 Annual Conference Speakers
Keynote Speaker
Inspired Innovation: Accelerating Therapeutic Development in Honor of a Loved One
Rich Horgan - President & CEO, Cure Rare Disease
Rich Horgan of Cure Rare Disease will share his personal journey of turning grief into action, inspired by his late brother's battle with an ultra-rare form of Duchenne muscular dystrophy. His talk will focus on the creation of innovative systems designed to fast-track the development of new therapies, highlighting the importance of perseverance and collaborative efforts in advancing medical science.
The Value We Bring
Sarah Spear - Founder & CEO, Empowered Together
Sometimes we forget that we deserve a seat at the table. When we're clear on the value we bring as people living with rare diseases and family members, we become effective advocates. This is what inspired Sarah Spear to begin Empowered Together and work with business owners to value customers with disabilities and rare diseases.
Pioneering Funding Approaches for Rare Disease Research and navigating solutions for these obstacles
Demetrios Braddock, MD - Hematopathologist & Biochemist, Yale University
This presentation delves into innovative methods to secure funding for rare disease research while also providing strategies for overcoming associated challenges. Through navigating solutions for these obstacles, attendees gain insights into effective approaches for advancing research in this critical field.
The ABCs of Genetic and Metabolic Testing for Diagnosis of Rare
Michelle Spencer-Manzon, MD - Medical and Biochemical Geneticist, Yale University
This talk will guide attendees on how to obtain genetic and metabolic tests, discuss the benefits and limitations of these tests, and explore their evolution. It aims to provide a comprehensive understanding of the advantages and drawbacks of these diagnostic tools.
The Replacement Team, Medicaid, Social Security and Beneficiary Designations – Is your Financial Planner Discussing the Same?
Charles Bergamo - Northwestern Mutual, Wealth Management Advisor
This talk emphasizes the importance of utilizing a financial planner who specializes in Special Needs Planning, going beyond investment and risk management. Including critical discussions and aspects with clients, such as forming a Replacement Team, navigating Medicaid and Social Security, and making appropriate beneficiary designations to ensure comprehensive and effective planning for individuals with special needs.
Empowering Patients, Improving Outcomes, and Accelerating Therapies for Rare Diseases with Patient-Centric Real World Evidence
Song Kim - Sanius Health, VP of US Operations
This session aims to provide insights into the strategic use of patient-centric real-world evidence (RWE) to address the unique challenges faced by patients with rare diseases and the pharmaceutical companies working to develop treatments for these conditions. This presentation will focus on the transformative potential of RWE, discussing how leveraging patient data can empower and equip individuals with information about their own health, enhance treatment outcomes, and accelerate the development of novel therapies.
Challenges in Transitioning Care within the Rare Disease Community
Neil Ead, MSN, CPNP, CNSC - University Surgical Associates, Nurse Practitioner Pediatric General Surgery
This talk delves into the complexities of transitioning care within the rare disease community, addressing the unique challenges patients face when moving between healthcare providers or systems. By examining these hurdles in-depth, attendees gain insights into potential solutions and strategies to improve the continuity and quality of care for individuals with rare diseases.
Strengthening Families: Peer Support and GEMSS Website Transition
Steph Lomangino, LMSW - Family Voices, Inc., Program Strategy Manager
This conference talk by National Family Voices delves into the importance of peer support in empowering families facing rare diseases. It also highlights the transition of the Genetic Education Materials for School Success (GEMSS) website, underscoring its role in providing valuable resources and information to support families navigating the educational aspects of rare diseases.
Inclusive Engagement: Patients and Caregivers' Crucial Role in Clinical Trials
Dr. Julieta Bonvin - Connecticut Children's, Lead Clinical Research Associate
This conference talk underscores the pivotal involvement of patients and caregivers in rare disease clinical trials, emphasizing the necessity of inclusivity for successful research outcomes. Attendees will gain insights into the significance of their active participation and advocacy, driving progress in the development of novel therapies for rare diseases.
How does a company approach to transforming rare disease?
Steven Uden, MD - Rallybio, Co-Founder & CEO
Explore innovative strategies in rare disease treatment with insights on how companies are revolutionizing approaches to these complex conditions. Discover the latest advancements, challenges, and success stories in transforming rare disease care. Join us to learn how industry leaders are making a significant impact in the field.
Tips for Effective Legislative Advocacy
Lesley Bennett - CT Rare Disease Advisory Council, Co-Chair
Our personal stories are a powerful tool when advocating on a local, state, or national level. However, our stories need to be told in an effective, focused way if we are going to change or influence the opinions of health policy decision makers and improve policies or laws that affect the Rare Disease Community. In this session on legislative advocacy, RNE attendees will receive tips on communicating effectively with health policy decision makers, the need for collaboration, and knowing when to compromise...while always remembering to be polite, prepared, and persistent.
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Empowering Lives: Resources and Nonprofits Enhancing Quality of Life in the Rare Disease Community
Make a Wish CT, myTeam Triumph, CT State Independent Living Council, and Mental Health CT
This conference panel highlights a diverse array of resources and nonprofits dedicated to improving the quality of life for individuals within the rare disease community. Attendees will gain valuable insights into the services, support networks, and advocacy efforts provided by these organizations, empowering them to access the assistance they need and strengthen their sense of community.
Rare Disease Mouse Modeling: Q+A Panel Discussion
JAX Scientists & Parent Partners
The Jackson Laboratory (JAX) Rare Disease Translational Center (RDTC) serves those with rare disease by accelerating the pre-clinical phase. The RDTC collaborates with a range of global entities, from families who have just received a diagnosis to biotech and pharmaceutical groups. As a trusted partner, our research team not only executes studies but becomes an integral part of the scientific research team. We tenaciously tackle even the most complex research problems, drawing on decades of expertise in rare disease. Join us for this panel discussion followed by a Q+A session to learn more about the role of mouse models in rare disease research and therapeutic development as well as to hear from our family partners with ongoing active projects in the JAX pipeline!
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