Events
Rare Drug Development Symposium 2023: Collaborate — Go Farther, Together
May 1, 2023 – May 3, 2023
Thank you for attending the 2023 RARE Drug Development Symposium in Philadelphia, Pennsylvania!
The RARE Drug Development Symposium, hosted by Global Genes and the Orphan Disease Center of the University of Pennsylvania, equips advocates with the knowledge, skills and connections they need to advance therapy development for their communities. RDDS 2023 focused on collaboration – the foundation of success in rare disease research.
Sessions & Key Takeaways from the 2023 RARE Drug Development Symposium
Charting the Path to Treatments
Each path toward development of rare disease therapeutics is different. In this plenary, you’ll hear from advocates who took different paths. Use their insights to get closer to approved treatments and therapeutics for your community.
View SessionRare Research Roadmap
An overview of the end-to-end drug development process highlighting interconnection points where patient advocacy groups can contribute. This video helps you understand the flow of basic research, early-stage research, clinical trials, regulatory, commercialization, and post-market follow up.
View SessionUnderstanding Data for Basic Research
Building a firm foundation for your research program helps avoid wasted time, money, and effort. Why is the data collected and produced by basic research important? What role does it play in driving research strategies?
View SessionNew Technologies in Early Stage Research
Find out how emerging technologies may be used for drug discovery, design and repurposing, transforming an often complex, decades-long mission into a more efficient process, reducing the timeline and cost to bring therapies to patients.
View SessionIntellectual Property: Balancing Stakeholder Rights
The founder of the University of Pennsylvania’s Orphan Disease Center outlines key concepts that advocates should be familiar with when negotiating contracts with industry and academic partners.
View SessionThe Regulatory Landscape: Pathways, End Points, and Clinical Trials
Learn about the different pathways open for rare disease therapeutics, why patients are essential to establishing meaningful outcome measures in these pathways, and what patient advocates can do to influence clinical trial design.
View SessionResearch Readiness
This session brings together the themes from two-days of conversations around patient-driven drug development, applying lessons learned to the collection and management of patient-collected data.
View SessionHow Can the FDA Improve Processes?
CBER Director Peter Marks discusses strategies that regulatory agencies are applying to accelerate treatment development for rare diseases.
View Session
Using case studies and real world examples, advocates learned how to:
* Leverage the power of data to drive research
* Expand research opportunities using new technologies
* Collaborate to advance research strategy and fill critical gaps
* Give patients a voice through engagement with regulatory agencies
Rare Drug Development Happens Year-Round
Global Genes provides educational resources to help advocates and organizations become better equipped to work with researchers and industry partners throughout the drug development process.
Rare Research Roadmap: This toolkit was designed to help advocates, individuals, families, and organizations better understand some of the potential routes to treatment and some of the key concepts that are part of these processes to work with researchers and industry partners throughout the drug development process.
The “How to Develop a Successful Global Patient Registry” webinar will be held after the conference.
Pre-RDDS Webinar
How to Support Your Community Before, During, and After Advanced Therapy Trials
During this session, you will hear from advocacy leaders and a physician on the role advocacy groups can play in anticipation of an advanced therapy clinical trial and how that role changes once the trial is in progress and then completed. You will also learn what makes advanced therapy trials unique and what the experience is like to help make informed decisions.
Event Speakers
Learn more about the speakers for the 2023 RARE Drug Development Symposium, and what sessions they will be participating in
Bruce Bloom
Kabuki Syndrome Foundation
Bruce Bloom
Kabuki Syndrome Foundation
Session: Using New Technologies in Early Stage Research
Session: Expert Office Hours
Area of Expertise:
* Drug repurposing
Time:
Tuesday, May 2, 1:15-2:15pm,
Tuesday, May 2, 4-5pm
Wednesday, May 3, 11:15-12:15pm
Dr. Bruce Bloom is the Chief Science Officer for the Kabuki Syndrome Foundation, driving the research and clinical development plans for this rare disease patient organization. He also serves as Chief Collaboration Officer of Healx, a Cambridge, UK biotech using AI to create novel therapies for rare disease patients, and Chief Science Officer for Goldman Philanthropic Partnerships. Dr. Bloom founded and led the global charity Cures Within Reach, which has brought over a dozen redeveloped drug therapies to patients through proof-of-concept clinical trials, and created CureAccelerator®, the online drug redevelopment collaboration marketplace.
Lea Ann Browning-McNee, MS
Reagan-Udall Foundation
Lea Ann Browning-McNee, MS
Reagan-Udall Foundation
Session: The Regulatory Landscape: Patients, Data and Clinical Trials
Lea Ann Browning-McNee translates complex science, research and policy into practical, meaningful stories relevant to the Reagan-Udall Foundation’s stakeholders. Before joining the Foundation, Lea Ann helped launch BrainFutures, a national nonprofit focused on promoting breakthroughs in brain health, and was instrumental in bringing Mental Health First Aid to the United States during her tenure at the National Council for Behavioral Health. She also served in senior leadership positions at the Mental Health Association of Maryland and the National Mental Health Association. She holds a bachelor’s degree in Communications and a master’s degree in Writing from Towson University.
Maya Chopra, MBBS, FRACP
Boston Children’s Hospital
Maya Chopra, MBBS, FRACP
Boston Children’s Hospital
Session: Understanding Data for Basic Research
Maya Chopra, Kira Dies, and Jed Hubbs will be providing Expert Office Hours together
Session: Expert Office Hours
Area of Expertise:
* Therapeutic discovery and development process for gene-based neurological disorders
Time:
Tuesday, May 2, 1:15-2:25pm
Tuesday, May 2, 4-5pm
Dr. Chopra is a Clinical Geneticist and Pediatrician, having obtained her qualifications in Australia in 2010 through the Royal Australasian College of Physicians and the Human Genetics Society of Australasia. Her expertise is in the assessment and diagnosis of children with rare genetic disorders. In her role as Director of Translational Genomic Medicine at the Rosamund Stone Zander Translational Neuroscience Center (Boston Children’s Hospital, Dr. Chopra is focused on rare neurodevelopmental disorders, particularly in understanding the genotypic and phenotypic spectrum and the underlying mechanisms to inform therapeutic development.
Yssa DeWoody, PhD
Ring14 USA
Yssa DeWoody, PhD
Ring14 USA
Session: Understanding Data for Basic Research (Moderator)
Yssa DeWoody, PhD, is the Cofounder, Director of Research, and past President of Ring14 USA, a non-profit focused on improving the lives for those impacted by neurodevelopmental disorders on the 14th chromosome. This work is a labor of love motivated by her daughter, Marie, who was born with the ultra-rare Ring Chromosome 14 Syndrome. Yssa is a true believer in collaboration as actualized by her commitment to several consortiums including Ring14 International (Cofounder and Past President), the Rare Epilepsy Network (ex officio Chair), Epilepsy Leadership Council, Epilepsy Learning Healthcare Systems, and the Commission for Neurodevelopmental CNVs (founding partner).
David Fajgenbaum, MD, MBA, MSc
University of Pennsylvania
David Fajgenbaum, MD, MBA, MSc
University of Pennsylvania
Session: Using New Technologies in Early Stage Research (Moderator)
Session: Expert Office Hours
Area of Expertise:
* Drug repurposing
* Collaborating with researchers
Time:
Tuesday, May 2, 4-5pm
David Fajgenbaum is an Assistant Professor of Medicine at the University of Pennsylvania, Founding Director of the Center for Cytokine Storm Treatment & Laboratory (CSTL), Associate Director of Patient Impact for the Penn Orphan Disease Center, and co-Founder/President of the Castleman Disease Collaborative Network (CDCN). He is also the national bestselling author of Chasing My Cure: A Doctor’s Race to Turn Hope Into Action and a patient battling idiopathic multicentric Castleman disease (iMCD). He is in his longest remission ever thanks to a precision treatment that he identified, which had never been used for iMCD. An authority on cytokine storms and their treatment, Fajgenbaum also launched the CORONA project in March 2020 to identify and track treatments for COVID-19.
Daniel Fischer
Tevard Biosciences
Daniel Fischer
Tevard Biosciences
Session: Using New Technologies in Early Stage Research
Daniel Fischer is co-founder, President, and CEO of Tevard Biosciences, a company pioneering tRNA therapeutics to treat rare genetic diseases, including Dravet syndrome, a disease that affects his daughter Natasha. He brings extensive management and entrepreneurial expertise. to his role, having been a management consultant to Fortune 500 companies and worked at the MIT with industry, academic researchers, and startups in advancing the state-of-the-art in multiple disciplines, including AI/ML, bio- and nanotechnology, IoT, and innovation management.
Alaa Hamed, MD, MPH, MBA
Sanofi
Alaa Hamed, MD, MPH, MBA
Sanofi
Session: Intellectual Property: Balancing Stakeholders’ Rights (Keynote Day 2)
Dr. Alaa Hamed is the Global Head of Medical for Rare Diseases and Rare Blood Disorders at Sanofi. He and his team focus on new-evidence generation strategies, providing medical insights to product development, and ensuring effective and meaningful medical engagement with rare disease stakeholders around the world.
Focusing on patient outcomes, he has spearheaded the development of numerous innovative disease-specific clinical outcome assessments, while representing the company in multiple industry, regulatory, and HTA interactions. Prior to Sanofi, Dr. Hamed held various positions in academia and biotech in HEOR, medical, clinical, regulatory research. He earned an MD from Cairo University and an MBA and MPH from Boston University.
Maureen Hart, PhD
Creyon Bio
Maureen Hart, PhD
Creyon Bio
Session: Using New Technologies in Early Stage Research
Session: Expert Office Hours
Area of Expertise:
* Working with Scientific/Medical Advisory Boards
* Establishing research partnerships
Time:
Tuesday, May 2, 1:15-2:25
Wednesday, May 3, 11:15-12:15pm
Maureen is a patient advocacy, public policy, and communications leader at Creyon Bio focused on accelerating biomedical innovation through structuring research collaborations with engagement of multiple stakeholders. Prior to Creyon, she was a strategic advisor with Global Genes and a researcher with the Science and Technology Policy Institute. She also has led the development of policies to protect human research subjects and public outreach projects on biomedical research at the University of Kentucky.
Maureen earned a Ph.D. in Public Policy from George Washington University, an M.S. in Science and Technology Studies from Virginia Tech, and a B.S. in Biology from University of California, Los Angeles.
Dan Lavery, PhD
Loulou Foundation
Dan Lavery, PhD
Loulou Foundation
Session: The Regulatory Landscape: Patients, Data and Clinical Trials
Sunitha Malepati
CACNA1A Foundation
Sunitha Malepati
CACNA1A Foundation
Peter Marks, MD, PhD
FDA Center for Biologics Evaluation and Research
Peter Marks, MD, PhD
FDA Center for Biologics Evaluation and Research
Session: How Can the FDA Improve Processes for Rare Diseases?
Peter Marks, MD, PhD
Director, Center for Biologics Evaluation and Research
Peter Marks received his graduate degree in cell and molecular biology and his medical degree at New York University and completed Internal Medicine residency and Hematology/Medical Oncology training at Brigham and Women’s Hospital in Boston. He has worked in academic settings teaching and caring for patients and in industry on drug development. He joined the FDA in 2012 as Deputy Center Director for CBER and became Center Director in January 2016.
Eric Marsh, MD, PhD
Orphan Disease Center
Eric Marsh, MD, PhD
Orphan Disease Center
Session: Understanding Data for Basic Research
Dr. Marsh is 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. His clinical interests are in developmental epilepsies, neurodevelopmental disorders, and cortical malformations. He has also been involved in clinical trials for children with Dravet, LGS, and Rett syndrome.
Dr. Marsh went to medical school and received a PhD in physiology and neuroscience at NYU. After completing his internship and pediatric residency there, he pursued a pediatric neurology residency and clinical neurophysiology fellowship at CHOP and also completed a post-doctoral fellowship at Perelman School of Medicine in Neurology and Pediatrics.
Katherine Maynard
PWR
Katherine Maynard
PWR
Session: The Regulatory Landscape: Patients, Data and Clinical Trials
Katherine Maynard is a healthcare communications strategist with extensive experience in alliance development, media relations, issues management, and brand positioning. For more than two decades, she has built connections with patient advocates, academia, and the healthcare industry to create innovative education initiatives that translate emerging scientific developments and communicate the patient experience. She is currently a principal at PWR — a multi-disciplinary team of scientists, lawyers, and communications professionals who apply deep scientific, legal, regulatory, and health policy expertise to develop science-based solutions to improve patient and public health.
Leah Schust Myers
FamilieSCN2A
Leah Schust Myers
FamilieSCN2A
Session: Opening Plenary: Charting the Path to Treatments
Leah has spent her entire career working in healthcare, from medical secretary to hospital manager, she learned how to manage the needs of large populations within a medical setting. When her son, Ben, was diagnosed with an SCN2A disorder in 2012, she knew how to leverage her 20+ years of experience to help not only her family, but hundreds of others.
First serving in a volunteer capacity as President of the Foundation Board at FamilieSCN2A, Leah became Executive Director in July 2019. She has been instrumental in networking with researchers and industry leaders to advance studying SCN2A and novel treatments.
Neena Nizar, EdD
Jansen’s Foundation
Neena Nizar, EdD
Jansen’s Foundation
Session: The Regulatory Landscape: Patients, Data and Clinical Trials
Dr. Nizar serves as Founder and Executive Director of the Jansen’s Foundation. She is a rare disease advocate for ultra-rare skeletal dysplasias. Dr. Nizar has a Doctoral degree in Educational Leadership from Creighton University, Nebraska, is a TEDx speaker, a blogger, a disability and inclusion advocate, and Nebraska’s Mother of The Year, 2018. Dr. Nizar is also a rare disease patient herself and a mother to two boys with Jansen’s Metaphyseal Chondrodysplasia – a rare bone disease that affects less than 30 people worldwide.
Elizabeth Ottinger, PhD
National Center for Advancing Translational Sciences
Elizabeth Ottinger, PhD
National Center for Advancing Translational Sciences
Session: The Regulatory Landscape: Patients, Data and Clinical Trials
Elizabeth Ottinger, PhD, is the Acting Director of the Therapeutics Development Branch (TDB) in the National Center for Advancing Translational Sciences’ (NCATS’) Division of Preclinical Innovation at the National Institutes of Health (NIH). Over the past 12 years, she has led multiple collaborative projects involving public-private partnerships to advance small molecules and biotherapeutics through pre-clinical and early clinical development, fostering relationships with rare disease patient advocacy groups. Currently, she is managing the preclinical development team for the Platform Vector Gene Therapy (PaVe-GT) program, a platform to improve the accessibility of AAV gene therapies and accelerate drug development for rare diseases with small numbers of patients.
Deborah Requesens, PhD
Sociedad Hispana de Enfermedades Raras (SHER)
Deborah Requesens, PhD
Sociedad Hispana de Enfermedades Raras (SHER)
Deborah Requesens, PhD
Cofounder
Sociedad Hispana de Enfermedades Raras (SHER)
Session: Uniendo Voces, Unlocking Solutions: Advancing Hispanic Inclusion in Rare Disease Advocacy and Research
Deborah Requesens, PhD, is the Director of the Orphan Disease Center’s JumpStart Program. This program serves to establish and progress research agendas in emerging and neglected diseases. She partners with patient groups and scientists to encourage scientific collaboration and drive therapeutic development for rare diseases. Deborah is the co-founder of SHER (Hispanic Society for Rare Diseases), an organization that promotes awareness about rare diseases and provides information and resources in Spanish to families of Hispanic origin, as well as organizations, scientists, and health professionals.
Isaac Rodriguez-Chavez, PhD, MHSc, MS
STAC3
Isaac Rodriguez-Chavez, PhD, MHSc, MS
STAC3
Session: The Regulatory Landscape: Patients, Data and Clinical Trials
Session: Expert Office Hours
Area of Expertise:
* Design and Clinical Operations for DCTs, RWE
* Validation studies for Digital Wearables
* Qualification studies for eCOAs
Time:
Tuesday, May 2, 1:15-2:15 pm
Dr. Isaac R. Rodriguez-Chavez is a biomedical and regulatory leader with expertise in infectious diseases, viral immunology, viral oncology (infectious diseases), and vaccinology. Currently, he is an independent consultant for scientific, clinical and regulatory affairs and digital medicine. Over 30+ years experience includes roles as: SVP, Scientific, Clinical Affairs at PRA Health Sciences and ICON; FDA, CDER Senior Officer for Clinical Research Methodology, Regulatory Compliance and Policy Development; CEO and Founder, 4Biosolutions Biomedical Consulting Firm. He has a PhD in Virology and Immunology; a MS in Microbiology; a MHS in Clinical Research and Health Sciences; and a B.S. in Biology.
Rodney Samaco, PhD
Baylor College of Medicine
Rodney Samaco, PhD
Baylor College of Medicine
Session: Understanding Data for Basic Research
Session: Expert Office Hours
Area of Expertise:
* Making sense of model systems
* Streamline and make efficient – (re)imagine the (preclinical) end goal
* The FOMO antidote – leverage the power of subtraction to maximize time and resources effectively
Time:
Tuesday, May 2 1:15-2:15pm
Tuesday, May 2, 4-5pm
Wednesday, May 3 11:15-12:15pm
Dr. Samaco is an Assistant Professor of Molecular and Human Genetics at Baylor College of Medicine (BCM) and Investigator at Texas Children’s Hospital. He is one of the Center Directors of NICHD Intellectual and Developmental Disabilities at BCM and serves on the Board of Directors of the Association of University Centers on Disabilities. His research program focuses on optimizing the framework for preclinical readiness of rare disease models. His team evaluates the natural history of disease in genetically modified rodents to identify measures that may serve as surrogate endpoints. By fostering collaborations across the landscape of patient advocacy, academic, and industry groups, he strives to advance community-based participatory approaches in the research and development of actionable therapies for RAREs. He received his Ph.D. in Molecular and Human Genetics from BCM and B.S. in Genetics from U.C. Davis.
Charlene Son Rigby
Global Genes
Charlene Son Rigby
Global Genes
Sessions:
Welcome and Opening Keynote
The RARE Research Roadmap – Charting the Way to Treatments
Charlene Son Rigby has spent her career building organizations at the intersection of data, technology, and life sciences. She currently serves as CEO of Global Genes. She was previously Chief Business Officer at Fabric Genomics and held executive roles at enterprise software and genomics companies, including Oracle and Doubletwist. She started her career in neuroscience research at Roche. When Charlene’s daughter was diagnosed with a rare genetic disease, she co-founded the STXBP1 Foundation. Charlene’s unplanned connection between her personal life and profession has helped push forward the search for a cure for her daughter and kids like her.
Karmen Trzupek, MS, CGC
Global Genes
Karmen Trzupek, MS, CGC
Global Genes
Session: The Research Readiness Roadmap Program
Session: Expert Office Hours
Area of Expertise:
* How to assess research readiness
* Prioritizing gaps in research readiness to de-risk therapeutic investment
Time:
Tuesday, May 2, 1:15-2:15 pm
Wednesday, May 3, 11:15-12:15 pm
Karmen Trzupek is Senior Director of Scientific Programs at RARE-X, part of Global Genes. She is an innovative leader in rare disease programming, with experience in academia, advocacy, and industry. Karmen develops collaborative partnerships to maximize the Rare-X data platform for the advancement of patient advocacy groups and industry-supported therapeutic pipelines. As a clinical genetic counselor, Karmen developed the first nationwide telemedicine program for rare disease genetic counseling and testing, and co-developed the first pharma-sponsored genetic testing program in the US.
Jay Vivian, PhD
Children’s Mercy Kansas City
Jay Vivian, PhD
Children’s Mercy Kansas City
Session: Small Group Action Workshop: Bridging basic research gaps
Cara Weismann, PhD
Orphan Disease Center
Cara Weismann, PhD
Orphan Disease Center
Session: Understanding Data for Basic Research
Session: Expert Office Hours
Area of Expertise:
* Data sharing
* Research programs
– discovery and pre-clinical developing and running a grant program
– developing and running a program of excellence
* Science policy
Time:
Tuesday, May 2, 4-5pm
Wednesday, May 3, 11:15-12:15pm
Dr. Weismann is the Director for the Program of Excellence (POE) in Mucopolysaccharidosis (MPS) Diseases at the non-profit organization the Orphan Disease Center. Within the POE, she leads a grant program whose goal is to accelerate the development of therapeutics and provide scientific resources to the MPS and lysosomal storage disease communities. She has extensive experience in therapeutic research, drug development, business development, and data sharing policy. She is passionate about using these skills to bring treatments to rare disease patients throughout the world.
James Wilson, MD, PhD
Orphan Disease Center, University of Pennsylvania
James Wilson, MD, PhD
Orphan Disease Center, University of Pennsylvania
Session: Intellectual Property: Balancing Stakeholders’ Rights (Keynote Day 2)
James M. Wilson, MD, PhD, is a professor in the Perelman School of Medicine at the University of Pennsylvania where he focuses on gene therapy. After completing his graduate studies at the University of Michigan and residency in Internal Medicine at the Massachusetts General Hospital, he continued his work in gene therapy at MIT. Throughout his career, the focus of Dr. Wilson’s research has been rare inherited diseases, ranging from cystic fibrosis to dyslipidemias to a variety of neurologic disorders. Dr. Wilson founded Health Through Fitness in Orphan Diseases, a 501(c)3 that supports Rare Disease Cycling, a cycling team helps raise money for rare disease research.
Ashley Winslow, PhD
Odylia Therapeutics
Ashley Winslow, PhD
Odylia Therapeutics
Session: The Research Readiness Roadmap Program
Session: Expert Office Hours
Area of Expertise:
* Drug development
* Gene therapy
* Engaging clinical and patient advisors for clinical development
* Building dynamic de-centralized research teams
* Research investment and prioritization
Ashley Winslow is President and Chief Scientific Officer of Odylia Therapeutics, a nonprofit biotech focused on developing gene therapies for rare diseases in partnership with patient groups and a strategic network of CROs, academic partners, and industry. She has experience overseeing drug development from target discovery to early phase clinical programs and brings to Odylia more than 15 years of drug development experience in academic, industry, and non-profit sectors.
Sophia Zilber
Cure Mito Foundation
Sophia Zilber
Cure Mito Foundation
Session: The Research Readiness Roadmap Program
Session: Expert Office Hours
Area of Expertise:
* Patient registries – starting a registry, deciding on a registry platform, creating a survey
* What to know about working with data
* Sharing results with the community, collaboration
Time:
Tuesday, May 2, 1:15-2:15 pm
Tuesday, May 2, 4-5 pm
Wednesday, May 3, 11:15 am-12:15 pm
Sophia is a board member and a patient registry director for Cure Mito Foundation, where she is leading a global Leigh syndrome patient registry. Sophia has over 20 years of experience with drug development, including clinical data analysis, and managing statistical programming teams to successfully meet clinical study requirements. After losing her newborn daughter, Miriam to Leigh syndrome in 2017, Sophia participated in and led multiple efforts with the goal of improving data collected in rare disease patient registries and increasing transparency between all stakeholders.
Expert Office Hours
Tuesday, May 2*: 1:15-2:15 pm and 4-5 pm
Wednesday, May 3*: 11:15-12:15 pm
*not all experts are available for all office hours. Please check each expert’s bio for their specific hours.
Bruce Bloom
Kabuki Syndrome Foundation
Bruce Bloom
Kabuki Syndrome Foundation
Session: Using New Technologies in Early Stage Research
Session: Expert Office Hours
Area of Expertise:
* Drug repurposing
Time:
Tuesday, May 2, 1:15-2:15pm,
Tuesday, May 2, 4-5pm
Wednesday, May 3, 11:15-12:15pm
Dr. Bruce Bloom is the Chief Science Officer for the Kabuki Syndrome Foundation, driving the research and clinical development plans for this rare disease patient organization. He also serves as Chief Collaboration Officer of Healx, a Cambridge, UK biotech using AI to create novel therapies for rare disease patients, and Chief Science Officer for Goldman Philanthropic Partnerships. Dr. Bloom founded and led the global charity Cures Within Reach, which has brought over a dozen redeveloped drug therapies to patients through proof-of-concept clinical trials, and created CureAccelerator®, the online drug redevelopment collaboration marketplace.
Lara Bloom
The Ehlers-Danlos Society
Lara Bloom
The Ehlers-Danlos Society
Session: Expert Office Hours
Times:
Tuesday, May 2
1:15-2:25pm, 4-5pm
Area of Expertise:
* Considerations when building a registry
* Working with global stakeholders on research
* Building Medical and Scientific board
* Health care professional collaboration in your disease area
Lara Bloom is the President and CEO of The Ehlers-Danlos Society and responsible for globally raising awareness of rare, chronic, and invisible diseases, specializing in the Ehlers-Danlos syndromes, hypermobility spectrum disorders (HSD), and related conditions. She manages coordinated medical collaboration and raises funds for research.
Lara speaks at conferences globally, lectures to medical students and professionals, and supports specialists in the field as a leading Patient Expert. Honoring her ten years in patient advocacy, Lara was appointed a Professor of Practice in Patient Engagement and Global Collaboration at Penn State College of Medicine, USA, on March 11, 2020.
Kira Dies, ScM, CGC
Boston Children’s Hospital
Kira Dies, ScM, CGC
Boston Children’s Hospital
Maya Chopra, Kira Dies, and Jed Hubbs will be providing Expert Office Hours together.
Kira Dies, ScM, GGC
Executive Director, Rosamund Stone Zander Translational Neuroscience Center
Boston Children’s Hospital
Session: Expert Office Hours
Area of Expertise:
* Therapeutic discovery and development process for gene-based neurological disorders
Time:
Tuesday, May 2, 1:15-2:25pm
Tuesday, May 2, 4-5pm
As a Board Certified and Massachusetts Licensed Genetic Counselor, Ms. Dies has focused her work on neurodevelopmental disorders including elucidating genetic causes, performing gene-specific clinical treatment trials, and providing genetic counseling in a clinical setting. Since 2008, she has worked in various roles at Boston Children’s Hospital, including Senior Genetic Counseling Program Manager and Co-Director of Clinical Research Operations of the Translational Neuroscience Center. In January 2021, she was named Executive Director of the new Rosamund Stone Zander Translational Neuroscience Center at Boston Children’s Hospital.
David Fajgenbaum, MD, MBA, MSc
University of Pennsylvania
David Fajgenbaum, MD, MBA, MSc
University of Pennsylvania
Session: Using New Technologies in Early Stage Research (Moderator)
Session: Expert Office Hours
Area of Expertise:
* Drug repurposing
* Collaborating with researchers
Time:
Tuesday, May 2, 4-5pm
David Fajgenbaum is an Assistant Professor of Medicine at the University of Pennsylvania, Founding Director of the Center for Cytokine Storm Treatment & Laboratory (CSTL), Associate Director of Patient Impact for the Penn Orphan Disease Center, and co-Founder/President of the Castleman Disease Collaborative Network (CDCN). He is also the national bestselling author of Chasing My Cure: A Doctor’s Race to Turn Hope Into Action and a patient battling idiopathic multicentric Castleman disease (iMCD). He is in his longest remission ever thanks to a precision treatment that he identified, which had never been used for iMCD. An authority on cytokine storms and their treatment, Fajgenbaum also launched the CORONA project in March 2020 to identify and track treatments for COVID-19.
Benjamin Forred, MBA, ACRP-CP
Sanford Research
Benjamin Forred, MBA, ACRP-CP
Sanford Research
Benjamin Forred, MBA, ACRP-CP
Director, Translational Research & The CoRDS Registry &
Director, Experimental Therapeutics Screening Facility
Sanford Researcn
Session: Expert Office Hours
Area of Expertise:
* Registries/natural history studies
* Clinical research, basic science (cell & animal models, iPSCs, etc.)
Time:
Tuesday, May 2, 1:15-2:15 pm
Tuesday, May 2, 4-5 pm
Wednesday, May 3, 11:15 am-12:15 pm
Ben has worked in the field of biomedical research since 2009. His experience ranges from nearly a decade working at the bench in basic science, to over five years working in the clinical research space. Currently, Ben is responsible for translational research projects at Sanford Research. His team maintains a colony of transgenic mice and a vast number of patient and rodent cell lines. He also helps coordinate research by physicians who are interested in research grade testing. Lastly, Ben oversees the CoRDS Registry. CoRDS is an international, disease agnostic, rare disease registry offered at no cost to people living with rare conditions or to the researchers investigating rare disease.
Simon Frost
Tiber Capital Group
Simon Frost
Tiber Capital Group
Simon Frost
Tiber Capital Group
Session: Expert Office Hours
Time:
Tuesday, May 2, 4-5pm
Wednesday, May 3 11:15-12:15pm
Area of Expertise:
* Path to therapies: AAV-mediated gene therapy, ASOs, gene editing, drug screening, and to a lesser extent EVs.
* Tools: mouse models, worm models, cell lines/IPSCs, endpoint/biomarker development, natural history studies
* Community cooperation: foundations, scientists, clinicians, intellectual property
Simon Frost is the CEO of Tiber Capital Group. Before joining Tiber Capital Group, he was the chief investment officer of Greencourt Capital, president and COO of Key Properties, and co-founder of The American Home. Simon holds Bachelor’s and Master’s degrees in economics from Cambridge University in England, and a Bachelor’s degree in finance from the University of South Africa. Simon serves as director of both Cure AHC and Hope For Annabel, charities dedicated to finding therapies for Alternating Hemiplegia of Childhood.
Maureen Hart, PhD
Creyon Bio
Maureen Hart, PhD
Creyon Bio
Session: Using New Technologies in Early Stage Research
Session: Expert Office Hours
Area of Expertise:
* Working with Scientific/Medical Advisory Boards
* Establishing research partnerships
Time:
Tuesday, May 2, 1:15-2:25
Wednesday, May 3, 11:15-12:15pm
Maureen is a patient advocacy, public policy, and communications leader at Creyon Bio focused on accelerating biomedical innovation through structuring research collaborations with engagement of multiple stakeholders. Prior to Creyon, she was a strategic advisor with Global Genes and a researcher with the Science and Technology Policy Institute. She also has led the development of policies to protect human research subjects and public outreach projects on biomedical research at the University of Kentucky.
Maureen earned a Ph.D. in Public Policy from George Washington University, an M.S. in Science and Technology Studies from Virginia Tech, and a B.S. in Biology from University of California, Los Angeles.
Jed Hubbs, PhD
Boston Children’s Hospital
Jed Hubbs, PhD
Boston Children’s Hospital
Maya Chopra, Kira Dies, and Jed Hubbs will be providing Expert Office Hours together.
Jed Hubbs, PhD
Staff Scientist
Boston Children’s Hospital
Session: Expert Office Hours
Area of Expertise:
* Therapeutic discovery and development process for gene-based neurological disorders
Time:
Tuesday, May 2, 1:15-2:25pm
Tuesday, May 2, 4-5pm
Dr. Hubbs is a medicinal chemist focused on neuroscience drug discovery. His experience includes training in synthetic organic chemistry, leading drug discovery projects in industry and founding a biotech company as an entrepreneur. He takes a collaborative and flexible approach in his research aimed at bringing new molecules to patients. At the RSZ TNC, he provides input on experiments involving bioactive small molecules and works to improve their properties by designing analogs.
Brett Kopelan
debra of America
Brett Kopelan
debra of America
Session: Expert Office Hours
Area of Expertise:
* FDA interactions in terms of general advocating and specific involvement with drug manufacturers
* Best practices in creating effective partnerships between PAGs and industry
* PAG involvement in all phases of drug development
* Venture philanthropy
Times:
Tuesday, May 2, 1:15-2:15 pm
Tuesday, May 2, 4-5 pm
Brett Kopelan entered the rare disease world fifteen years ago when his daughter was born with recessive dystrophic epidermolysis bullosa (RDEB). He now serves as Executive Director of Dystrophic Epidermolysis Bullosa Research Association of America (debra of America). Brett serves on the boards of several organizations, including the Foundation for Cell & Gene Medicine, Alliance for Regenerative Medicine, and the Wound Care Collaborative Community.
Prior to his rare disease work, Brett was an accomplished entrepreneur in business development and marketing. He has a graduate degree from Columbia University and an undergraduate degree from New York University.
Sunitha Malepati
CACNA1A Foundation
Sunitha Malepati
CACNA1A Foundation
Ben Prosser, PhD
Perelman School of Medicine
Ben Prosser, PhD
Perelman School of Medicine
Ben Prosser, PhD
Associate Professor of Physiology
Perelman School of Medicine, University of Pennsylvania
Session: Expert Office Hours
Times:
Tuesday 4-5pm
Area of Expertise:
* Diversifying/prioritizing therapeutic modalities
* Developing animal and human stem cell based models
* Industry collaboration, strategies for seed funding
Dr. Benjamin Prosser is an Associate Professor of Physiology at the University of Pennsylvania Perelman School of Medicine. He earned his Ph.D. in Molecular Medicine from the University of Maryland School of Medicine and started his own lab at Penn Medicine. In 2018, his daughter Lucy was diagnosed with STXBP1 encephalopathy. Dr. Prosser started a separate research arm in his lab focused on developing new therapies for STXBP1 and related disorders. This work led to the formation of the Center for Epilepsy and Neurodevelopmental Disorders (ENDD), an interdisciplinary collaboration of fundamental, translational and clinical researchers focused on developing genetic therapies for STXBP1, SYNGAP1, and related neurodevelopmental disorders.
Isaac Rodriguez-Chavez, PhD, MHSc, MS
STAC3
Isaac Rodriguez-Chavez, PhD, MHSc, MS
STAC3
Session: The Regulatory Landscape: Patients, Data and Clinical Trials
Session: Expert Office Hours
Area of Expertise:
* Design and Clinical Operations for DCTs, RWE
* Validation studies for Digital Wearables
* Qualification studies for eCOAs
Time:
Tuesday, May 2, 1:15-2:15 pm
Dr. Isaac R. Rodriguez-Chavez is a biomedical and regulatory leader with expertise in infectious diseases, viral immunology, viral oncology (infectious diseases), and vaccinology. Currently, he is an independent consultant for scientific, clinical and regulatory affairs and digital medicine. Over 30+ years experience includes roles as: SVP, Scientific, Clinical Affairs at PRA Health Sciences and ICON; FDA, CDER Senior Officer for Clinical Research Methodology, Regulatory Compliance and Policy Development; CEO and Founder, 4Biosolutions Biomedical Consulting Firm. He has a PhD in Virology and Immunology; a MS in Microbiology; a MHS in Clinical Research and Health Sciences; and a B.S. in Biology.
Luke Rosen, MS
KIF1A
Luke Rosen, MS
KIF1A
Session: Using New Technologies in Early Stage Research
Session: Expert Office Hours
Area of Expertise:
* Planning clinical trials
* Identifying meaningful end points
Time:
Tuesday 2 May, 4-5 pm;
Wednesday 3 May, 11:15 am-12:15 pm
Luke Rosen and his wife, Sally Jackson, founded KIF1A.ORG in 2016 following their daughter Susannah’s KIF1A diagnosis. In 2017, Luke left his career in film and television to accelerate discovery of treatment for Susannah and children like her. He has held various senior level positions in biotech working to develop treatments for rare, neurological conditions including KIF1A. Luke strives to accelerate therapeutics by integrating community-driven initiatives and experiences into R&D.
Luke has a master’s degree in bioethics and is a firefighter in the Sag Harbor, New York Fire Department.
Rodney Samaco, PhD
Baylor College of Medicine
Rodney Samaco, PhD
Baylor College of Medicine
Session: Understanding Data for Basic Research
Session: Expert Office Hours
Area of Expertise:
* Making sense of model systems
* Streamline and make efficient – (re)imagine the (preclinical) end goal
* The FOMO antidote – leverage the power of subtraction to maximize time and resources effectively
Time:
Tuesday, May 2 1:15-2:15pm
Tuesday, May 2, 4-5pm
Wednesday, May 3 11:15-12:15pm
Dr. Samaco is an Assistant Professor of Molecular and Human Genetics at Baylor College of Medicine (BCM) and Investigator at Texas Children’s Hospital. He is one of the Center Directors of NICHD Intellectual and Developmental Disabilities at BCM and serves on the Board of Directors of the Association of University Centers on Disabilities. His research program focuses on optimizing the framework for preclinical readiness of rare disease models. His team evaluates the natural history of disease in genetically modified rodents to identify measures that may serve as surrogate endpoints. By fostering collaborations across the landscape of patient advocacy, academic, and industry groups, he strives to advance community-based participatory approaches in the research and development of actionable therapies for RAREs. He received his Ph.D. in Molecular and Human Genetics from BCM and B.S. in Genetics from U.C. Davis.
Karmen Trzupek, MS, CGC
Global Genes
Karmen Trzupek, MS, CGC
Global Genes
Session: The Research Readiness Roadmap Program
Session: Expert Office Hours
Area of Expertise:
* How to assess research readiness
* Prioritizing gaps in research readiness to de-risk therapeutic investment
Time:
Tuesday, May 2, 1:15-2:15 pm
Wednesday, May 3, 11:15-12:15 pm
Karmen Trzupek is Senior Director of Scientific Programs at RARE-X, part of Global Genes. She is an innovative leader in rare disease programming, with experience in academia, advocacy, and industry. Karmen develops collaborative partnerships to maximize the Rare-X data platform for the advancement of patient advocacy groups and industry-supported therapeutic pipelines. As a clinical genetic counselor, Karmen developed the first nationwide telemedicine program for rare disease genetic counseling and testing, and co-developed the first pharma-sponsored genetic testing program in the US.
Vanessa Vogel-Farley
Global Genes
Vanessa Vogel-Farley
Global Genes
Session: Understanding Data for Basic Research
Session: Expert Office Hours
Area of Expertise:
* Research administration
* Research databases
* Data governance
* Clinical trial readiness
* PAG clinical trial readiness programs and PAG roles in clinical trial recruitment
* PAG engagement with Pharma
Time:
Tuesday, May 2 1:15-2:15pm
Tuesday, May 2, 4-5pm
Vanessa Vogel-Farley is the Senior Director of Research and Data Analytics and serves as the Principle Investigator for RARE-X, Global Genes and is also an independent data and advocacy consultant in the rare space. She is the co-founder of the Commission on Novel Technologies for Complex Copy Number Variants and serves on the Coordinating Committee for the Rare Epilepsy Network, the Epilepsy Leadership Council and the Alliance for Genetic Etiologies in Neurodevelopmental Disorders and/or Autism. She has 20 years of experience in data collection methods, non-profit and research operations and management, patient advocacy, and child development neuroscience/psychology research.
Cara Weismann, PhD
Orphan Disease Center
Cara Weismann, PhD
Orphan Disease Center
Session: Understanding Data for Basic Research
Session: Expert Office Hours
Area of Expertise:
* Data sharing
* Research programs
– discovery and pre-clinical developing and running a grant program
– developing and running a program of excellence
* Science policy
Time:
Tuesday, May 2, 4-5pm
Wednesday, May 3, 11:15-12:15pm
Dr. Weismann is the Director for the Program of Excellence (POE) in Mucopolysaccharidosis (MPS) Diseases at the non-profit organization the Orphan Disease Center. Within the POE, she leads a grant program whose goal is to accelerate the development of therapeutics and provide scientific resources to the MPS and lysosomal storage disease communities. She has extensive experience in therapeutic research, drug development, business development, and data sharing policy. She is passionate about using these skills to bring treatments to rare disease patients throughout the world.
Ashley Winslow, PhD
Odylia Therapeutics
Ashley Winslow, PhD
Odylia Therapeutics
Session: The Research Readiness Roadmap Program
Session: Expert Office Hours
Area of Expertise:
* Drug development
* Gene therapy
* Engaging clinical and patient advisors for clinical development
* Building dynamic de-centralized research teams
* Research investment and prioritization
Ashley Winslow is President and Chief Scientific Officer of Odylia Therapeutics, a nonprofit biotech focused on developing gene therapies for rare diseases in partnership with patient groups and a strategic network of CROs, academic partners, and industry. She has experience overseeing drug development from target discovery to early phase clinical programs and brings to Odylia more than 15 years of drug development experience in academic, industry, and non-profit sectors.
Sophia Zilber
Cure Mito Foundation
Sophia Zilber
Cure Mito Foundation
Session: The Research Readiness Roadmap Program
Session: Expert Office Hours
Area of Expertise:
* Patient registries – starting a registry, deciding on a registry platform, creating a survey
* What to know about working with data
* Sharing results with the community, collaboration
Time:
Tuesday, May 2, 1:15-2:15 pm
Tuesday, May 2, 4-5 pm
Wednesday, May 3, 11:15 am-12:15 pm
Sophia is a board member and a patient registry director for Cure Mito Foundation, where she is leading a global Leigh syndrome patient registry. Sophia has over 20 years of experience with drug development, including clinical data analysis, and managing statistical programming teams to successfully meet clinical study requirements. After losing her newborn daughter, Miriam to Leigh syndrome in 2017, Sophia participated in and led multiple efforts with the goal of improving data collected in rare disease patient registries and increasing transparency between all stakeholders.
2023 RARE Drug Development Symposium Posters
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