Meet our 2025 Speakers

Alpa Khushalani is a rare disease mom and serves as the Vice President of Client Success & Delivery at Gooseberry Research. She leverages patient’s lived experience in implementing hybrid trial models that combine traditional and decentralized elements to optimize study execution. She will share insights on the impact of pediatric research home health services for rare disease trials.

Amy Apostoleris, MBA, is CEO of DFnet Research and Cofounder of PatientX, bringing over 30 years of leadership in clinical research and biopharma to advance patient-centric trial design and global rare disease data solutions.

Amy Grover is Executive Director of Patient Advocacy at Catalyst Pharmaceuticals, where she champions neuromuscular patient communities—including LEMS and Duchenne—by building educational programs and support frameworks in close collaboration with patient organizations. She will discuss pragmatic methods to embed real-world patient perspectives into trial design and execution to enhance relevance and reduce burden.

Amy Rick, JD, FDA’s inaugural Director of Strategic Coalitions for the Rare Disease Innovation Hub and CDER’s Associate Director for Rare Disease Strategy, brings over two decades of policy, advocacy, and government experience—most recently as Principal Consultant at Leavitt Partners and former President & CEO of the Food and Drug Law Institute—to lead cross-center engagement and external partnerships that accelerate rare disease product development.

Dr. Dugar is Chief Medical Affairs Officer at Dyne Therapeutics, with over two decades of leadership in medical affairs, clinical development, and real‑world evidence initiatives in rare neuromuscular disorders DM1 and DMD. He will discuss how Dyne engaged with patients and families to co‑design clinical trials (e.g. DELIVER and ACHIEVE), improving trial relevance, accessibility, and participant experience.

Dr. Henry is a Medical Director, Cell and Gene Therapy Center of Excellence at IQVIA. He is a physician‑scientist and clinical development strategist with over a decade of experience leading cell & gene therapy and oncology trials — from early safety through phase IV and global regulatory harmonization.

Casey McPherson is the Founder & CEO of AlphaRose Therapeutics, a public-benefit biotech spun out from the To Cure A Rose Foundation, pioneering parent-led precision genomic medicine to develop ASO therapies—beginning with “Rosiphersen” for his daughter’s ultra-rare condition—while leveraging equity crowdfunding to accelerate rare disease treatments

Chelley Casey is Vice President of Patient Advocacy at Wave Life Sciences, leading rare disease engagement efforts across programs like Duchenne and Huntington’s. She will share how Wave eases patient burden in trials using home visits, remote assessments, and support tailored to real-world needs.

Christopher Rudolf is the CEO of Volv Global, specializing in leveraging natural language processing and artificial intelligence to enhance real-world data analysis in rare disease clinical trials. He will present on the integration of AI and NLP in analyzing real-world data to improve trial design and patient recruitment in rare diseases.

Clark Paramore is the Head of Global Value Evidence Strategy at Biogen and a seasoned health economics and outcomes research expert with deep expertise in value demonstration for innovative therapies such as gene and rare disease treatments. He will discuss how to strategically design rare disease trials that generate robust evidence for payers, ensuring market access considerations, all integrated from the outset.

Craig Lipset is the Co-Chair of the Decentralized Trials and Research Alliance (DTRA). With a background in clinical innovation, he advocates for the integration of decentralized methodologies to enhance trial efficiency and patient access. He will discuss strategies to expedite the adoption of decentralized trials in rare diseases, highlighting technological advancements and regulatory considerations.

Craig Martin is the CEO of the Orphan Therapeutics Accelerator. He brings experience in fostering collaborations between nontraditional sponsors, such as patient advocacy groups, and industry stakeholders to advance rare disease research. He will discuss the increasing role of nontraditional sponsors in rare disease trials, exploring how these entities contribute to innovation and patient-centric research approaches.

David Vulcano is the Vice President of Research Compliance & Integrity at HCA Healthcare, with a focus on integrating AI technologies to improve patient recruitment strategies in clinical research. He will discuss the use of AI in identifying and recruiting patients for rare disease trials, addressing challenges and solutions in this domain.

Dennis Akkaya is Chief Commercial Officer at myTomorrows, where he leads global commercial strategy for patient access—drawing on his extensive background in expanded‑access programs, AI‑enhanced clinical trial matching, and cross‑functional collaborations to improve pre‑approval access and engagement in rare disease research.

Donna Mackey, Vice President, Clinical Operations, Lilly Gene Therapy at Eli Lilly & Company, has overseen clinical trial execution across various therapeutic areas ultimately leading to new therapies for many rare conditions. She will share insights on integrating operational strategies to enhance trial efficiency and data quality.

Dr. Dashiell-Aje is the Executive Director and Head of Patient-Centered Outcomes Science at BioMarin Pharmaceutical, leading efforts to incorporate patient perspectives into clinical outcome assessments. She will discuss the development and implementation of patient-centered outcome measures in rare disease trials, highlighting the role of digital health technologies.

Dr. Smith is Medical Director and Principal Investigator at Rare Disease Research. Previously, he spent 20 years at Duke University, where he founded and directed the Duke Children's Neuromuscular Program. He will share his experience with hybrid and decentralized trials at an academic medical center and an independent clinical trial site network.

Dr. Neto is the Global Head of Country and Site Operations and Executive Director at Biogen, specializing in site selection and operational strategy. He will discuss advanced methodologies for site selection that go beyond traditional feasibility surveys to enhance trial efficiency.

Dr. Peay is a Senior Director at Faegre Drinker Consulting, specializing in patient-focused drug development, patient engagement, and bioethics research. She brings extensive experience in integrating patient perspectives into clinical and public health research, with a focus on rare diseases, genomic technologies, and ethical considerations in emerging therapies.

Ilan Ganot, MBA, is the co-founder and former CEO of Solid Biosciences and now CEO of Alesta Therapeutics, drawing on a decade of Wall Street investment-banking experience and personal Duchenne patient advocacy to advance novel oral small-molecule therapies for rare diseases.

Jake Caines is spearheading commercial strategy, sales, and marketing at Curant Health, with over a decade of experience in neuroscience, renal, gastrointestinal, and regenerative medicine.

Dr. Maynard is the Director of the FDA’s Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine at the FDA, where she has led the agency’s efforts in orphan drug, rare pediatric disease, and humanitarian device designation programs—overseeing legislatively mandated grant and designation initiatives and serving as the FDA’s primary liaison with patients, sponsors, and stakeholders in the rare disease field.

Dr. Guptill is the Disease Area Development Lead for late-stage neuromuscular clinical trials at argenx and oversees the late-stage clinical development programs for efgartigimod (FcRn inhibitor) and empasiprubart (C2 complement inhibitor). He has served as a principal investigator for NIH supported clinical trials in academia and currently supports late-stage, global, clinical development programs in neuromuscular diseases at argenx.

Jeffrey Smith is Vice President and Head of Patient Advocacy at Ionis Pharmaceuticals, where he collaborates with a dedicated team to deepen engagement and support within the patient advocacy community. He will discuss strategies for integrating patient voices into rare disease trial design to reduce patient burden and improve trial relevance.

Jen Farmer is CEO of the Friedreich’s Ataxia Research Alliance (FARA), where she pioneered development of clinical research infrastructure, expanding funding and transforming trial readiness for Friedreich’s ataxia. She will share her experience in using patient advocacy to expand trial networks, reduce participant burden, and accelerate therapy development.

Jennifer Hunt, Health Value Translation Lead at Sanofi, is a seasoned clinical development leader with over 25 years’ experience guiding global gene‑therapy programs for rare inherited retinal diseases (including preclinical AAV-based candidates for LCA5, RDH12, NMNAT1) at companies like Editas, Travere Therapeutics, and Voyager. She will share strategies for aligning clinical, regulatory, and payer goals in gene therapy programs.

Jen Shumsky is a Founder of JLS Consulting and specializes in market access and reimbursement strategies, leveraging her nursing background to bridge clinical and payer perspectives. She will emphasize the importance of early engagement with payers during Phase 2 trials to align clinical outcomes with reimbursement requirements.

Dr. Tanner is an Assistant Professor of Neurology at the Biggs Institute for Alzheimer's and Neurodegenerative Diseases at UT Health San Antonio, specializing in early-onset dementia and chronic traumatic encephalopathy. He is also a father of a child with an ultrarare, randomly-acquired neurodevelopmental condition and a Co-Founder of the Channeling Hope Foundation.

John Hall is the President of Shore Research & Development and Director of Clinical Operations at REGENXBIO, focusing on performance metrics in clinical trials. He is will discuss the development and utilization of KPIs and dashboards to monitor and drive trial performance.

Dr. Lin is Senior Vice President of Clinical Development and Clinical Pharmacology at Travere Therapeutics, leveraging her nephrology and public-health expertise to advance innovative kidney therapies. She will present on the topics of real-world evidence and how to align trials with patient-lived experiences.

Dr. Hoelzer is Senior Director of Patient Advocacy at Biotechnology Innovation Organization (BIO), advancing policy and partnerships that amplify patient voices in rare disease drug development. She will lead a hands-on workshop on crafting credible value stories using real-world evidence that resonates with payers, regulators, and patients alike.

Kelly Franchetti, RN, CCRN, is CEO of The Patient View, bringing over 20 years of critical care nursing, patient advocacy, and clinical research experience to embed authentic patient and caregiver voices at every stage of drug development. She’ll guide participants through proven methods like in-depth interviews, video journaling, and caregiver workshops to co-create trial protocols that truly reflect patient needs.

Ken Harvey is Senior Consultant, Clinical Operations and former Director of Clinical Operations at Epicrispr Biotechnologies, with expertise in strategic planning and execution of clinical trials. He will discuss the integration of strategic planning, execution, and accountability measures to enhance trial outcomes in rare diseases.

Dr. Musunuru is the Barry J. Gertz Professor at the University of Pennsylvania and co-founder of Verve Therapeutics, specializing in gene editing therapies for cardiovascular and metabolic diseases. He is will discuss the application of gene editing technologies in platform trials for inherited cardiovascular diseases.

Kristi Clark, Senior Vice President of Clinical Operations & Data Management at Avidity Biosciences, channels over 30 years of global rare-disease trial leadership—including co-founding Agility Clinical and building operations in Europe—into relentlessly patient-centric development strategies. She will share her experience operationalizing decentralized and hybrid rare disease trials.

Dr. Pisani is Vice President of Clinical Development at Taysha Gene Therapies, with a background in medical genetics and extensive experience leading gene therapy programs for rare neurological disorders. She will discuss common trial design challenges specific to gene therapy study protocols.

Lauren Lee is Executive Director, Head of Patient Advocacy at Travere Therapeutics, where she leads advocacy strategy in rare kidney and metabolic diseases and oversees a Rare Disease Patient Advisory Council. She will facilitate dialogue on bringing patient-centric insights into multinational operational planning.

Lauren Morgenroth is the CEO and co-founder of TRiNDS, a CRO specializing in neuromuscular and rare disease clinical trials, with deep expertise in multicenter trial operations and patient-focused research. She will share strategies for designing and implementing KPIs and cross-functional dashboards that improve transparency, collaboration, and decision-making in rare disease clinical trial operations.

Dr.  Wilcoxen is Senior Vice President of Product Development and Regulatory Affairs at Checkpoint Therapeutics, leading regulatory strategy, CMC, supply chain, and product development across oncology programs, including the FDA‑approved cosibelimab (UNLOXCYT). She will speak on operational excellence in global, multisite rare disease trials, highlighting how to align regulatory, CMC, and development functions to deliver complex studies at scale.

Leila Cupersmith is the CEO of Choice ClinOps, with extensive experience in global oncology and rare disease clinical trial operations. She will discuss best practices for operational excellence in complex, global rare disease trials.

Lesa Brackbill is the Associate Director of Advocacy for Patient Advocacy Strategies and brings more than ten years of lived experience as a rare parent and parent advocate in the newborn screening and access space.

Dr. Rojas is President and CEO of InCSD, a clinical development consultancy specializing in rare disease trial design, biometrics, and regulatory strategy. He will discuss how to accelerate rare disease clinical trials, highlighting efficient trial design to optimize both scientific rigor and operational effectiveness.

Mandi Walters is SVP of Business Development, Rare Disease at Sciensus, driving global partnerships to expand access and home-based care for rare disease therapies. She will share how real-world evidence from specialty pharmacy and home care can strengthen market access and reimbursement strategies in rare disease.

Marc O'Connor is a principal owner and Chief Business Officer for Curant Health, and a nationally recognized thought leader on health care delivery, collaboration, and alignment. Marc has experience in the pharmacy supply chain component of the commercialization of biopharmaceuticals, as well a deep history in patient support and engagement.

Marcella Lynch is Head of Pricing, Forecasting, and Contracting for the Americas Market Access Rare Disease division at Chiesi USA, bringing over 15 years of experience driving strategic pricing and access decisions for rare disease therapies across the biotech and pharmaceutical landscape. She will share practical strategies for initiating meaningful pricing and access conversations with payers during Phase 2.

Dr. Hames is the CEO of BioLogic Pharma Solutions, bringing expertise in strategic planning and commercialization of pharmaceutical products. She will discuss challenges and solutions encountered during the commercialization of rare disease therapies, drawing from her consultancy experience.

Dr. Pletcher is the Chief Scientific Officer at Weaver Biosciences, with a background in leading gene therapy programs at Astellas, Roche, and Pfizer. He will share insights on the development and implementation of platform trials across multiple rare diseases.

Megan Parisi is the Patient Solutions Lead at Syneos Health, specializing in the integration of digital health technologies to enhance patient engagement in clinical trials. She will explore the use of digital tools to collect patient-reported outcomes and improve trial efficiency.

Dr. Binks is the Chief Medical Officer at Capricor Therapeutics, bringing over 25 years of experience in global clinical development and translational research, with a focus on immunology and rare diseases. He will lead a discussion on pragmatic strategies to overcome trial design challenges, including patient heterogeneity, endpoint selection, and global site feasibility.

Mindy Cameron is the President of AdvocacyWorks, bringing extensive experience in patient advocacy and ethical considerations in clinical research. She specializes in developing frameworks for transparent communication between researchers and participants. She will explore ethical strategies for returning individual patient data, emphasizing the importance of transparency and trust in the patient-researcher relationship.

Nicole Stansbury is Senior Vice President of Global Clinical Operations at Premier Research and a visionary leader focused on revolutionizing clinical trial site management and centralized, risk-based monitoring She will share practical lessons on choosing and aligning CROs and vendors effectively for rare disease trials.

Dr. Trifillis is the Senior Vice President of Medical Affairs & Scientific Communications at Rapid Commercialization Partners, with prior experience at PTC Therapeutics. She specializes in strategic planning and communication in rare disease clinical development. She will discuss common pitfalls in rare disease trials and strategies to mitigate risks, ensuring successful trial outcomes.

Pat Furlong is the Founding President and CEO of Parent Project Muscular Dystrophy (PPMD), the largest U.S. nonprofit dedicated to Duchenne muscular dystrophy, which she established in 1994 after losing her two sons to the disease, and she is recognized globally as a leading advocate and authority in rare disease research, policy, and patient-centered care.

Dr. Brooks is the Deputy Director of the Division of Rare Diseases Research Innovation at NCATS NIH, focusing on developing platform approaches to expedite gene therapy trials. He will discuss collaborative frameworks and regulatory considerations for platform trials in gene therapy.

Dr. Dinh is Vice President and Head of Medical Affairs at Wave Life Sciences. He has extensive experience in medical strategy for rare disease therapies including NMOSD and other orphan indications. He will be focusing on how medical affairs can operationalize real-world patient perspectives to optimize commercial success.

Rachel Smith is Vice President and Global Head of Rare Disease at Parexel, providing expertise on effective, expedited, and robust clinical development strategies for rare therapies to accelerate these much-needed options to rare patients as safely as possible. She will discuss operational excellence in global, multisite rare disease trials.

Dr. Huml is Vice President of Rare Disease Strategy at Sciensus, with over 30 years in biopharma and a focus on rare disease commercialization and patient engagement. He is a published author and former Global Head of the Rare Disease Consortium at Syneos Health. He will explore how rare disease trials are evolving with decentralized models, real-world evidence, and digital health tools, and how global commercialization strategies must adapt to ensure patient access.

Rebeca Gonzalez is Director, Decentralized Client Solutions at FutureMeds, a role in which she has contributed to over 100 clinical trials using decentralized methods, bringing deep experience in integrating these models into clinical operations. She will discuss her experience with operationalizing hybrid global rare disease trials.

Renata Shih, MD is a pediatric cardiologist with over a decade of expertise in pediatric heart failure, transplantation, and clinical research, now serving as Principal Investigator on multiple neuromuscular gene therapy trials at Rare Disease Research in Atlanta.

Richie Kahn is the Co-Founder & COO of Canary Advisors, focusing on patient engagement and recruitment strategies in clinical trials. He will share insights on effective patient recruitment methodologies and engagement tactics across diverse populations.

Rob Goldstein‑Mahon is Patient Advocacy Director at Ionis Pharmaceuticals, bringing over 20 years of leadership in building rare disease advocacy strategies, including co-chairing NORD's Corporate Council Patient Advocacy & Engagement Working Group. He will discuss real-world engagement models in rare disease clinical development.

Ryan Fischer is Chief Operating Officer at the Foundation for Angelman Syndrome Therapeutics (FAST), bringing nearly two decades of experience building rare disease advocacy platforms—most notably expanding PPMD’s reach from a small 3-person team to leading federal policy efforts and grassroots engagement. He will share FAST’s advocacy-driven strategies—covering policymaker engagement, patient preference research, and building scalable community infrastructure.

Dr. Paganoni is an Associate Professor in the Department of Physical Medicine and Rehabilitation at Harvard Medical School and a physician at Massachusetts General Hospital. She specializes in ALS research, with an emphasis on clinical trials and biomarker development. She will share insights on precision medicine approaches in rare disease trials, highlighting the integration of biomarkers to enhance trial efficiency and outcomes.

Dr. Kassim is Chief Technology Officer of Genetic Medicines at Danaher. He is a translational research and manufacturing expert and has contributed to 15 first in human trials and three BLAs in the field of genetic medicines.

Dr. Hopkins serves as Senior Vice President of Therapeutics at AskBio, a subsidiary of Bayer AG, where he leads gene therapy programs targeting rare neurological disorders. He will explore the application of gene therapy in rare disease trials, focusing on design considerations unique to these therapeutic approaches.

Dr. Sandeep Menon is Chief Development Officer at Alnylam Pharmaceuticals, previously SVP and Head of Early Clinical Development at Pfizer, where he led global early-stage trial design - including advanced digital endpoints and adaptive, small-population methods - across multiple therapeutic areas including rare disease

Seth Rotberg is the Senior Manager of Patient Advocacy at Solid Biosciences. As a patient advocate living with Huntington's disease, he leverages his personal experience to inform patient-centric approaches in clinical trial design. He will lead discussions on incorporating patient-lived experiences into trial design, ensuring that studies are aligned with the needs and preferences of participants.

Sharon King is Chief Operating Officer at the National MPS Society and a veteran rare disease advocate—she co-founded Taylor’s Tale in honor of her daughter with CLN1 Batten disease and helped establish North Carolina’s first Rare Disease Advisory Council (Taylor’s Law). She will share how community-led advocacy, policy engagement, and non-profit leadership can transform trial infrastructure and participant support.

Dr. Patel is a Field Medical Director specializing in Rare Disease Cardiology at Pfizer and a parent of a child with Metachromatic Leukodystrophy. Her dual perspective as a medical professional and caregiver informs her advocacy for patient-centered research. She will share insights on the experiences of patients and caregivers in rare disease trials, emphasizing the importance of empathy and support throughout the research process.

Dr. Babu is an Associate Professor of Neurology at Harvard Medical School and a neurologist at Massachusetts General Hospital. Her research focuses on neuromuscular disorders and clinical trial design, particularly in ALS. Dr. Babu will discuss the implementation of adaptive trial designs in neuromuscular disorders, emphasizing the benefits of platform trials in accelerating therapeutic development for rare diseases.

Dr. Sparks is Vice President, Clinical Development at Tessera Therapeutics, with prior experience at Sanofi-Genzyme, focusing on translating clinical insights into successful commercialization strategies. She will share real-world examples of rare disease product launches, emphasizing the integration of clinical development and market access planning.

Suzanne Gaglianone serves as patient representative at Reveragen BioPharma and is the founder of Patient Focused Travel. She brings considerable experience with patient clinical trial travel and patient focused trial design. She will discuss how trial sponsors can share individual patient data.

Dr. Defay is the Deputy Head of Diagnostics at Alexion AstraZeneca, contributing to the development of precision medicine approaches in rare disease treatment. He will share insights on implementing precision medicine strategies in clinical trials, including biomarker integration and patient stratification.

Tim Mooney is Senior Director and Program Leader for ALN‑APP and ALN‑SOD at Alnylam Pharmaceuticals, with extensive commercialization and market access expertise in advancing RNA interference therapies for rare indications. He will discuss successful case studies of commercializing rare disease therapies.

Wendy Erler is Senior Vice President of Patient Affairs at Sarepta Therapeutics (formerly AstraZeneca/Alexion), where she spearheads patient experience, advocacy, and insight strategies to embed patient perspectives in rare disease development and commercialization. She will guide participants through building credible value stories, showing how real-world evidence shaped by authentic patient insights can strengthen payer and stakeholder trust in rare disease therapies.