RARE Drug Development Symposium to have daily morning Fireside Chats

June 3, 2022

The 2022 RARE Drug Development Symposium kicks off June 8, and Global Genes is ecstatic about the speaker lineup for all of the sessions this year. Going with this year’s theme of disrupting innovation, Global Genes is going for a different approach with sessions this year. Formats will be more laid back and inclusive, with fireside chats to start the day, and workshop-style sessions with experts and peers throughout the day that will be offered at multiple times so you don’t miss any content. 

In addition to the daily morning fireside chats and the workshop-style sessions, attendees will hear from Maryna Kolochavina, PharmD, PMP, an expert in a lifecycle management of a number of rare and orphan conditions. Her early morning session is sure to get people pumped up for the last day of RDDS!

Daily Morning Fireside Chats

Fireside chats will be moderated by RARE Drug Development Symposium Advisory Board Chair, Rodney Samaco, PhD.

Rodney Samaco, PhD
Assistant Professor, Department of Molecular and Human Genetics
Baylor College of Medicine 

Dr. Samaco has had the honor and pleasure to serve as the Advisory Board Chair of the 2022 Rare Drug Development Symposium. Co-hosted by Global Genes and the Penn Medicine Orphan Disease Center, the organizations’ leadership and advisory members, conference organizers and facilitators, and subject matter experts have worked to bring the RARE community a perspective and format uniquely suited for stimulating in-person interaction. For this 6th annual symposium, Dr. Samaco hopes that attendees will leave RDDS (re)invigorated with new knowledge or insight, transformative ideas and an expanded network base to advance their respective key organizational missions and priorities.

Dr. Samaco is an Assistant Professor of Molecular and Human Genetics at Baylor College of Medicine (BCM) and Investigator of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital (NRI-TCH). His research program focuses on optimizing the framework for preclinical readiness of rare and ultra-rare genetic neuro-related disorders. His team leverages the natural history of disease in genetically-defined rodent models to identify measures that may serve as surrogate endpoints in the development of actionable therapies. 

As an advocate for team science efforts, he actively fosters cross-disciplinary collaboration and capacity-building efforts in the national and international landscape of academic, patient advocacy and industry partners, some of which are accomplished through his role as the Co-Director of the NICHD Eunice Kennedy Shriver BCM Intellectual and Developmental Disabilities Research Center (IDDRC), Director of the BCM IDDRC and NRI Neurobehavioral Core Facilities, and Academic Lead of the Behavioral Phenotyping Group for BCM’s KnockOut Mouse Project, a member of the International Mouse Phenotyping Consortium. He helps to strengthen the relevance and meaningfulness of preclinical study outcomes with intent by integrating community-based participatory approaches that ensure early and frequent direct engagement within and across communities. Whether through his direct research or advisory roles with patient-led advocacy and research groups (e.g. with groups that will join us to provide their expertise and knowledge at the 2022 RDDS such as the Penn ODC CDKL5 Program of Excellence, LouLou Foundation, International Foundation for CDKL5 Research, and INADcure Foundation), or by engaging in national advocacy for disabilities and special needs with the Association of University Centers on Disabilities, Dr. Samaco strives to better shape the ongoing narrative of how basic research findings may have a profound and positive impact on human health.

Learn More:
BCM Faculty Profile
NRI Faculty Profile 
International Mouse Phenotyping Consortium 
Baylor College of Medicine Intellectual and Developmental Disabilities Research Center
Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Centers
Association of University Centers on Disabilities 

Fireside Chat: What are the Keys To Accelerating Rare Disease Research?

David Fajgenbaum, MD, MBA, MSc
Assistant Professor of Medicine, University of Pennsylvania Perelman School of Medicine
Co-Founder, Castleman Disease Collaborative Network (CDCN)

David is sometimes known as the “doctor who cured himself”, but most of the time, he is simply thankful to have the opportunity to work with his teams at the University of Pennsylvania School of Medicine and the Castleman Disease Collaborative Network and their mission to cure Castleman and many more diseases. 

 He is a top healthcare leader, national bestselling author of Chasing My Cure: A Doctor’s Race to Turn Hope Into Action, and a groundbreaking scientist, who has been recognized nationally and internationally for his work. With publications in high-impact journals, and many scientific awards, David leads the field to accelerate research and treatments for Castleman disease and is dedicated to advancing drug-repurposing as co-director of the CURE Drug Repurposing Collaboratory, lead investigator for a collaboration with the Chan Zuckerberg Initiative to advance rare disease drug repurposing, and a member of the Board of Directors for the Reagan-Udall Foundation for the FDA. David has been profiled in a cover story by The New York Times as well as by Good Morning America, CNN, Science, Reader’s Digest, Forbes 30 Under 30, and the Today Show. 

David is an Assistant Professor of Medicine in Translational Medicine & Human Genetics at the University of Pennsylvania, Founding Director of the Center for Cytokine Storm Treatment & Laboratory (CSTL), Associate Director, Patient Impact of the Penn Orphan Disease Center, and Co-Founder/President of the Castleman Disease Collaborative Network (CDCN), which he spearheaded and through which he discovered a treatment that is saving his life and others.

Learn More:
Castleman DIsease Collaborative Network
Roadmap Project

Paul Howard, PhD
Senior Director of Public Policy, Amicus Therapeutics 

Paul is an accomplished healthcare policy leader with a proven track record of directing large-scale programs and high impact communications to prepare the industry for the future of healthcare technology and value-driven reimbursement. He is dedicated to leveraging policy and government experience to advance the mission of organizations driving innovation to improve patient outcomes and is recognized as an impassioned leader and effective communicator with the ability to cultivate a vision based on shared values. 

He is currently Senior Director of Public Policy at Amicus Therapeutics, where he is responsible for ensuring consistent and appropriate implementation of overarching public policy initiatives and messages within the US that help shape the legislative, reimbursement, and regulatory environment for the development and marketing of products for the treatment of rare and genomic disorders. 

Previously, he was Senior Advisor to the Commissioner of the U.S. Food and Drug Administration (2017-19) on regulatory policy, strategic innovation initiatives, and promoting competition to efficiently advance public health and safety; while at the agency he also worked as the Chief Strategy Officer for the Information Exchange and Data Transformation (INFORMED) Program, where he consulted  directly with key opinion leaders across the U.S. Department of Health and Human Services, academic institutions, FDA subject matter experts, and leading technology firms to build an agile framework for modernizing the agency’s existing tools for assessing safety and efficacy data in the pre- and post-market. 

Prior to joining the U.S. FDA, he was a Senior Fellow and Director of Health Policy at the Manhattan Institute, where he wrote on a wide variety of medical-policy issues, including FDA reform, biopharmaceutical innovation, consumer-driven health care, and Medicare and Medicaid modernization.

He is currently a co-chair of the Regulatory Working Group and member of the Executive Committee at the Alliance for Artificial Intelligence in Healthcare; he is also co-Chair of the Regulatory Working Group the EveryLife Foundation.

Learn More:
Panel Discussion: Data Silos are Hindering Rare Disease Research

Carla Rodriguez-Watson, PhD, MPH
Director of Research, Reagan-Udall Foundation for the FDA

Carla Rodriguez-Watson is the Director of Research and oversees the Innovation in Medical Evidence Development and Surveillance (IMEDS) program at the Reagan-Udall Foundation for the FDA and supports the scientific programming for the COVID-19 Evidence Accelerator. 

 The IMEDS program is a transformational public-private partnership focused on accelerating and improving real world evidence (RWE) generation for risk/benefit assessment of medical products. Carla, an epidemiologist by training, has 25 years of experience in the use of real-world data (RWD) for public health and health services research.

 Her research interests and responsibilities relevant to rare diseases include leveraging RWE to increase diversity and patient centricity in clinical trials and exploring the appropriateness of RWD to enhance decentralized, community-based, pragmatic trials and to assess long-term safety. 

 Learn More:
Reagan Udall Foundation
Covid-19 Evidence Accelerator

Fireside Chat: What Can We Do Together?

Nicole Boice
Co-founder and CEO, RARE-X

Nicole Boice founded Global Genes in September 2008, catalyzed by a friend whose son was born with a rare genetic condition called Joubert Syndrome. Their journey to a diagnosis, and introduction to the magnitude of patients impacted by rare disease, is what inspired Nicole to create Global Genes to support patients and families impacted by one of the almost 11,000+ known rare diseases.  

Currently, Nicole serves as the Founder and Executive Director of RARE-X, a non-profit collaborative supporting a patient-led data collection and federated data sharing platform. The mission and vision of RARE-X is to accelerate disease understanding, diagnosis, and the development of future cures, while removing  barriers to access and participation  for patients to collect, connect, share and steward their data and become better equipped research partners within the rare disease ecosystem. 

In a recent AXIOS interview, Nicole was asked to identify the biggest challenges for rare diseases.  “It’s three really big challenges that face rare disease: data silos, the lack of structured and appropriate data for research, as well as for so many rare diseases, the existence of no real data to characterize these diseases,” she said.

“With RARE-X our goal is to help streamline and automate the collection of critical patient-level data that is research-ready, owned and governed by patients to share often and broadly, said Boice. “There is a subset of patient report data that we know patients continue to get asked for, we provide  an opportunity for this data to be shared easily through novel data governance provided to all patient communities leveraging the RARE-X platform.“  

RARE-X currently supports over 35 disease communities since its platform launched in August 2021, with an open invitation to other rare disease patient community leaders to explore if RARE-X can be a benefit to them  in the areas of data collection and sharing for research.

Learn More:
AXIOS Interview with Nicole Boice

Sarita Edwards, BHSc
CEO and President, E.WE Foundation 

Sarita Edwards is CEO and President of the healthcare advocacy E.WE Foundation. Her efforts in advocacy and public policy began after her 5th child was diagnosed in utero with the rare disease Edwards Syndrome or Trisomy 18. Sarita is recognized as a top patient expert and social health ambassador. She is the host of the Being Rare Podcast, an online resource hub and community conversations platform popular for its 60 second episodes. Sarita also serves on executive boards and advisory councils, is a rare disease legislative advocate, a member of multiple coalitions, and an active participant in DEI workgroups. 

Learn More:
The E.WE Foundation
Being Rare Podcast with Sarita Edwards

Eric Marsh, MD, PhD
Clinical Director, Orphan Disease Center
University of Pennsylvania Perelman School of Medicine

Eric, a seasoned MD, PhD whose experience spans both research and clinical domains, has a passion for developmental epilepsies, neurodevelopmental disorders, and cortical malformations.  With appointments at both the University of Pennsylvania and the Children’s Hospital of Philadelphia, Eric’s focus has had a strong emphasis on the impact of intraneuronal development and altered excitability on epilepsy, analyzing intracranial EEG recordings to better localize the epileptic zone and network, and performing natural history and electrophysiological biomarker studies.  Eric has been involved in a number of clinical trials for children with the DEEs, including Dravet, LGS, and Rett syndrome. 

With such robust experience in both the pre-clinical and clinical space, the Orphan Disease Center (ODC) at UPenn found it especially fitting to recruit Eric as the center’s Clinical Director.  His leadership in this role has enabled and fostered collaborations with patient groups, academics, and clinicians to develop strategies and research agendas for various rare disease groups as they navigate the often nuanced and complex drug development process. 

Dr. Marsh received his Medical Degree at New York University School of Medicine, as well as PhD in physiology and neuroscience at NYU Sackler School of Biomedical Sciences. He then completed his Internship and pediatric residency at NYU. Dr. Marsh completed advanced training as a Resident in Child Neurology and Fellow in Clinical Neurophysiology at CHOP, as well as post-doctoral studies prior to his academic appointment as faculty at Perelman School of Medicine in the Departments of Neurology and Pediatrics. He is now an associate professor of neurology at University of Pennsylvania Perelman School of Medicine and CHOP, Clinical Director of Penn Orphan Disease Center, and Director of the CHOP Rett and Related disorders clinic.

Learn More:
CheckRare Panel: How Data Silos are Hindering Research
CHOP faculty profile
Laboratory of Dr. Eric Marsh
Penn Medicine ODC

A Novel Framework For Improving Rare and Orphan Medical Product Life Cycle Development Approval and Use

Dr. Maryna Kolochavina is one of the leading experts in R&O medical product development and commercialization. Throughout her career, Dr. Kolochavina has served as an Executive Leader, Trusted Advisor and Patient Advocate. Dr. Kolochavina, a former Ukranian resident with family still in Kyiv, has a PharmD in clinical pharmacology from National Medical Academy, Gdansk, Poland, and a Master’s Degree in International Education from American University, Washington, D.C.

She has dedicated her professional career to improving care for patients with R&O diseases. She has 17 years of experience in lifecycle medical product management for 240+ R&O medicinal products and advanced therapies in 44 therapeutic classes with 440+ orphan drug designations, resulting in approximately $4.5 billion in capital committed to alliances with biotechnology and pharmaceutical partners of all sizes. 

Currently Dr. Kolochavina launched with the Critical Path Institute a first-of-its-kind pre-consortium collaboration, named ‘5-Voices,’ bringing together nearly 200 industry leaders and stakeholders to accelerate and standardize key constructs for the efficient development, approval and access to R&O medical products. Such collaboration will allow for the development of an integrated framework that will set an optimized standard for getting more R&O medical products to more patients, more quickly. To learn more and become engaged, please email [email protected] or read the press release below about this initiative:

Learn More:
Optimizing the Rare and Orphan Medical Product Lifecycle


See breakout workshops and speaker lineups:
Disruptive Innovations in Clinical Trials Workshop
AI-Driven Screening Platforms and New Approaches to Therapeutics
Emerging Models & Partnerships
Fostering Successful Connections Between Stakeholders to Accelerate Progress

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