RARE Drug Development Symposium: How industry leaders are disrupting innovation

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 2022!

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?
June 9, 8:40am
Liberty A, Ballroom Level

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?
June 10, 8:40am
Liberty A, Ballroom Level

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
Friday, June 10, 7:30am
Liberty A, Ballroom Level

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 

Breakout Workshops

Disruptive Innovations in Clinical Trials
Multiple sessions to choose from – space is limited!

Craig Lipset
Co-Chair, Decentralized Trials & Research Alliance
Adjunct Assistant Professor, Health Informatics, Rutgers University
Founder, Clinical Information Partners

Craig is an advisor to technology and biopharmaceutical companies, leading universities, and the venture community, bringing vision and driving action at the intersection of research, digital solutions, and patient engagement. He is the founder of Clinical Innovation Partners, where he provides growth advisory services for organizations developing and implementing innovative approaches for clinical research and medicine development.  

 Among the many roles he plays, he is co-chair for the Decentralized Trials & Research Alliance (DTRA). DTRA enables collaboration to accelerate the adoption of patient-focused, decentralized clinical trials and research within life sciences and healthcare. Craig also serves on the Board of Directors for the Foundation for Sarcoidosis Research and the MedStar Health Research Institute, as well as on the Editorial Board for Therapeutic Innovation & Regulatory Science. Craig is Adjunct Assistant Professor in Health Informatics at Rutgers University, and Adjunct Instructor in the Center for Health + Technology at University of Rochester.

Previously, Craig was the Head of Clinical Innovation and Venture Partner at Pfizer, on the founding Operations Committee for TransCelerate Biopharma, and on the founding management teams for two successful startup ventures (Perceptive Informatics and Adnexus Therapeutics). During that time, Craig designed and launched multiple industry firsts — from the first fully remote/virtual clinical trial for a new medicine to the first returning of results and data to research participants.

Learn More:
Decentralized Clinical Trials: Collaboration is Needed to Expand their Adoption and Impact
The New Normal in Clinical Trials: Decentralized Studies

Caitlin Nichols, PhD
Research Director, AllStripes Research 

In her role as Research Director at AllStripes, Dr. Nichols oversees scientific communications and the design and execution of real-world data research partnerships with industry, academic, government, and patient advocacy group stakeholders. She received a PhD in Biological and Biomedical Sciences from Harvard University. Dr. Nichols was formerly a scientific curator on the Product Science team at 23andMe, where she helped develop and improve consumer genetic test reports. 

Learn More: 
Patient Engagement and Real-World Data Drive Innovation in Orphan Disease Drug Development
The Importance of a Natural History Study, a webinar with CLOVES Syndrome Community, LGDAlliance, and Denise Adams (starts at 17:32)
The JUMP (Journey to Understand MMA and PA) Study: A Natural History Study, 43rd Annual Society for Inherited Metabolic Disorders (SIMD), April 2022
ONCE UPON A GENE – Episode 076 – AllStripes: Jump Start New Research for Your Rare Disease with Caitlin Nichols

Jennifer Tjernagel, MS
Senior Project Manager, Simons Foundation

Jennifer Tjernagel is the senior project manager for Simons Searchlight, an international research program funded by the Simons Foundation, with the goal of accelerating science and improving lives for people with rare genetic neurodevelopmental disorders.

This innovative data collection platform, designed to collect standardized data and biospecimens across over 170 genetic conditions associated with neurodevelopmental disorders, bridges the needs of researchers, families and industries.  Researchers can request access to phenotypic, genetic, or imaging data; order biospecimens and/or submit a research match application to recruit individuals or families for future research studies. Caregivers and patients learn how they compare to others in their genetic community through summary reports and presentations. They can also connect with others with the same diagnosis through various Facebook communities and by attending conferences.

Simons Searchlight collects family, medical, developmental and behavioral information through online surveys and phone interviews with families and individuals. Biospecimen collection is performed either remotely or at in-person family meetings. More than 6000 families have registered with Simons Searchlight to date. 

Jennifer Tjernagel’s personal connection to the world of rare disease began when her teenage son was diagnosed with Vascular Ehlers Danlos Syndrome (VEDS) in early 2017. She has served on both the Board of Directors and Medical and Scientific Board of the Ehlers Danlos Society since 2018.  Jennifer is also a member of the VEDS Collaborative, powered by the VEDS Movement as part of the Marfan Foundation.  Before her work with the Simons Foundation, Tjernagel spent ten years in the pharmaceutical industry as an associate director of statistical analysis and reporting at Pfizer.

Learn More: 
Simons Searchlight on YouTube – researchers share how they have used Simons searchlight data and collaborations to advance neurodevelopmental and rare disease research
Simons Searchlight FAQs
Simons Foundation Autism Research Initiative (SFARI) programs
SFARI resources for the research community learn more about funding opportunities, available resources (data, biospecimens, animal models), how to access resources and how to recontact cohort participants. 
SFARI funding opportunities 

Vanessa Vogel-Farley, MS
Research and Data Governance Lead, RARE-X

Vanessa Vogel-Farley serves as the Data Collection Platform Lead for RARE-X. She currently serves as the Chair of the Rare Epilepsy Network and is formerly the Executive Director of the Dup15q Alliance.  

Her work is informed by over 18 years of experience in data collection methods, including a position at the University of Minnesota, Center for Neurobehavioral Development and as the Clinical Research Coordinator for the Division of Developmental Medicine Laboratory of Cognitive Neuroscience, Boston Children’s Hospital, working on collaborations with scientists from MIT and Harvard examining several clinical populations, including autism.

She also brings expertise in non-profit and research operations, patient advocacy and support, non-profit management, and broad knowledge of child development neuroscience/psychology research and administration.

Learn More: 
A Patient-Centric Approach to Consent (White Paper)
Insights and Recommendations for Organizational DEI Strategies (Report and Study)
Enabling the Future of Cell & Gene Therapies through Non-Proprietary Patient-Owned Data Collection
Patient-Owned Health Data Registries – India Feasibility Study Report


AI-Driven Screening Platforms and New Approaches to Therapeutics
Multiple sessions to choose from – space is limited!

Darius John Adams, MD
Division Chief of Genetics and Metabolism, Goryeb Children’s Hospital 
Scientific Advisory Board Member, INADCure Foundation 

Dr. Adams sits on the scientific advisory board of the INADcure foundation and is involved in clinical trial research not only for Infantile Neuroaxonal Dystrophy but also phenylketonuria, fragile X syndrome and lysosomal storage disorders. 

Dr. Adams completed his internship and residency in Genetics at the Mount Sinai Medical Center in New York City, where he received comprehensive training in genetics and dysmorphology. He remained at Mount Sinai for an additional year to complete a fellowship in Metabolic/Biochemical Genetics. Dr. Adams is a board certified Clinical and Biochemical. Dr. Adams joined Goryeb Children’s Hospital in 2013 as the Division Chief of Goryeb Children’s Hospital Genetics and Metabolism. He also coordinates the regional NJ Newborn Screening referral center and the Lysosomal Storage Disease program at Atlantic Health System. 

Learn More:
INADCure Foundation

Simi T. Ahmed, PhD 
Senior Vice President, Strategic Partnerships, New York Stem Cell Foundation

Simi Ahmed is an immunologist with 10+ years of experience in strategic planning and scientific portfolio development in the non-profit sector.  Currently, Simi leads strategic partnerships at the New York Stem Cell Foundation (NYSCF). Partnership projects include disease modeling efforts using stem cells, iPSC enabled patient-centric drug screening, and the generation of candidate cell therapies for complex and neglected diseases, including Rare Diseases.

Prior to joining NYSCF, Simi was a portfolio lead at JDRF, where she spearheaded multi-stakeholder initiatives worldwide to accelerate therapeutic development. She received her undergraduate degree in Biophysical Chemistry from Dartmouth College, a PhD in Immunology from the Weill Cornell Graduate School of Medical Sciences and completed her postdoctoral training with Dr. James Darnell Jr. at the Rockefeller University.

Learn More:
New York Stem Cell Foundation Website
Artificial Intelligence and Robotics Uncover Hidden Signatures of Parkinson’s Disease

Christopher Hart, PhD
Co-Founder, CEO and President, Creyon Bio

Chris is an experienced leader of interdisciplinary teams with decades of experience leveraging computational methods, machine learning and AI, and deep biological insights to solve problems. Prior to creating Creyon Bio, he built the functional genomics department at Ionis Pharmaceuticals. He was responsible for the company-wide genomics and bioinformatics efforts, including the development, running, and processing of all next-generation sequencing assays, development of research software informatics, and execution and strategic leadership of translational ‘omics and exploratory drug discovery programs that included programs in rare and common diseases. As a tenure-track faculty member at New College of Florida and a researcher at Lovelace Respiratory Research Institute, he researched and taught bioinformatics and computational biology. Prior to his work in the pharmaceutical industry, he worked at the Science and Technology Policy Institute advising the White House Office of Science and Technology Policy on matters ranging from personalized medicine to international health research funding. Chris earned his Ph.D. in Biology and Computer Science Applications in Biotechnology from the California Institute of Technology and conducted post-doctoral training at Yale University.

Learn More:
Creyon Bio
Creyon Debuts to Disrupt Oligonucleotide Research 
Creyon Bio is Creating Precision Medicines for Diseases Common and Rare
Artificial Intelligence and Machine Learning to Accelerate Translational Research: Proceedings of a Workshop – in Brief
Can Machine-learning Models Overcome Biased Datasets? MIT News, Massachusetts Institute of Technology

Frederick (Rick) Monsma, PhD
Senior Vice-President of Scientific Operations, New York Stem Cell Foundation (NYSCF)

The expansion of big data acquired over years and across multiple RAREs has created an evolving rich opportunity to find meaningful solutions with “what we have in hand – now”. Computational machine-based algorithms can be leveraged to identify in an unbiased manner baseline features of data or disease models that were previously unknown or under-appreciated.  The New York Stem Cell Foundation (NYSCF) exemplifies AI-driven approaches, such as high throughput screening (HTS) combined with statistical modeling that can drive discovery, shape predictions, and assist in the targeted design of disease therapeutics.

The New York Stem Cell Foundation’s SVP of Scientific Operations, Rick Monsma, oversees all laboratory operations at NYSCF, including day to day functioning, project planning, and strategic development. Rick started his career as a post-doc at the NIH and thereafter moved to an industry position with Hoffman-LaRoche in Basel, Switzerland where he focused on the identification and characterization of G-protein Coupled Receptors. From Roche, Rick was recruited to Schering-Plough to set up and lead a group devoted to identifying ligands for orphan GPCRs. Later, he led the High Throughput Screening (HTS) group at Schering-Plough, including development of capabilities to address screening of several million compounds in 1536 well format. Following the Merck/Schering merger, Rick transitioned to leading a Cell Pharmacology group, which developed and conducted diverse cell-based assays in support of Drug Discovery projects in Neuroscience, Diabetes and Cardiovascular Diseases.

Learn More:
NYSCF’s Mission and Approach
Stem Cells 101
Rare Disease Research at NYSCF
NYSCF Drug Discovery Platform

Amina Ann Qutub, PhD
VP of Computational Biology, Rarebase 

The Rarebase team understands  that there are thousands of rare diseases, so rather than approaching them one by one, they are tackling rare drug discovery at scale. Amina’s work pioneering technologies at the interface of computer science, neurovascular biology and engineering is bringing the needed knowledge for this greater goal. 

Amina joined the Rarebase team as VP of Computational Biology in January of 2022. Leading the computational thrust of Rarebase and working closely with bench scientists, Amina and her team are developing mathematical models and an artificial intelligence platform to identify the best therapies for use in children and adults with rare diseases. By systematically interrogating the network biology of many rare genetic mutations experimentally and computationally, the team has the ability to accelerate the path to clinical treatment. Amina is also an Associate Professor in Biomedical Engineering at the University of Texas, San Antonio (UTSA), and a research thrust lead of the Artificial Intelligence MATRIX Consortium. The MATRIX consists of more than sixty researchers focused on novel artificial intelligence applications to improve human wellbeing and augment human performance. Amina received her PhD in Bioengineering from UC Berkeley and UCSF, with a major in mathematical modeling and minor in neurology, and completed her postdoc as a National Institute of Health NRSA fellow in Biomedical Engineering at Johns Hopkins University, School of Medicine. She is an American Institute for Medical and Biological Engineering Fellow, National Academies Keck Future Initiatives Awardee and National Science Foundation CAREER Awardee. She also serves as a standing member of the U.S. National Academies of Science, Engineering and Medicine’s Biotechnology Capabilities and National Security Needs.

Rarebase partners with families and patient communities affected by rare disease to search for new applications for drugs already on the market. Their goal is to find associations between these drugs and rare diseases, in order to help patients in a rapid, cost-effective and safe way. Amina is excited to harness her experience to move Rarebase’s mission forward and help accomplish the Rarebase vision of applying cutting-edge computational and experimental methods to rapidly advance therapeutic discovery for rare disorders.

Learn More:
Rarebase: A Path Forward for One or Many
Amina’s TedX Houston talk

Emerging Models and Partnerships
Multiple sessions to choose from – space is limited!

Matthew Ellinwood, DVM, PhD
Chief Scientific Officer, National MPS Society

Dr. Ellinwood has over 24 years of experience in comparative medical genetics. Before becoming the Chief Scientific Officer at the National MPS Society, he led a world-class academic research team focused on neuropathic lysosomal storage diseases. He is experienced in basic and applied research including IND and clinical trial enabling collaborations with foundations and academic and industry partners, both nationally and internationally.  At the Society he works toward clinical progress and early patient access to effective therapy for all of the MPS and ML disorders.

Learn More:
We Cannot Rely on Clinical Diagnosis to Find MPS Patients Before Irreversible Disease Caused Damage
National Library of Medicine List of Citations

Selected Citations:
Grant N, Sohn YB, Ellinwood NM, et al. Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair. Mol Genet Metab Rep. 2022 Mar;30:100845. 
Eisengart JB, Esler AN, Ellinwood NM, et al. Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses. Mol Genet Metab. 2021 Sep-Oct;134(1-2):68-76. 
Harm TA, Hostetter SJ, Nenninger AS, et al. Temporospatial Development of Neuropathologic Findings in a Canine Model of Mucopolysaccharidosis IIIB. Vet Pathol. 2021 Jan;58(1):205-222.
Clarke LA, Dickson P, Ellinwood NM, Klein TL. Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience. Int J Neonatal Screen. 2020 Nov 19;6(4).
Ellinwood NM, Ausseil J, Desmaris N, et al. Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes. Mol Ther. 2011 Feb;19(2):251-9. 
Dierenfeld AD, McEntee MF, Vogler CA, et al. Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci Transl Med. 2010 Dec 1;2(60):60ra89.

Khemraj Hirani, PhD, RPh, MBA, RAC
PriZm Therapeutics

“Fast forward” is the term that Khemraj Hirani uses when he talks about PriZm Therapeutics’ approach to developing SRW101, a first-in-class treatment for MCT8 deficiency.  Also known as Allan-Herndon Dudley Syndrome (AHDS), this ultra-rare, X-linked disorder (1 in 70,000 males) results from mutations in the SLC16A2 gene, which affect the transport of thyroid hormones (TH) essential for proper brain development during prenatal and early childhood stages. While MCT8-deficiency reduces the availability of TH to the brain (also known as central nervous tissue) it paradoxically produces an excess of TH in peripheral body tissues, resulting in an increase in metabolism, affecting the nutritional state and the ability to gain weight. MCT8 deficient patients have serious neurocognitive, motor, and peripheral organ disorders from early childhood and a seriously reduced life expectancy.

An AHDS treatment approach developed with over two decades of research by Professor Samuel Refetoff, MD, and Roy Weiss, MD, Ph.D., FACP, FACE has been tested in animal models extensively. Dr. Refetoff and Weiss are determined to advance the treatment to clinical trials and make a difference in the lives of more patients. A global team of experts was assembled, and they successfully used SRW101 to treat patients under compassionate use, with very positive clinical study results.

Under the leadership of Dr. Kiran Avancha and Vivek Kopparthi (CEOs), since founding the company in 2021, the team at PriZm has received orphan drug designation in the EU and US, and rare pediatric drug designation in the US. In a recent type B meeting, PriZm reached an agreement from the FDA on primary endpoints for a single phase 3 trial with 40 subjects, based on data from compassionate use and animal models. 

Raj, a seasoned biotech executive of a few startups, including Signos Inc, RSF Bio Inc and Ambulero Inc. Ambulero It is a UM spin-off biotech with first-in-class regenerative cell and gene therapies targeting treatment for Buerger’s disease (also known as thromboangiitis obliterans), a rare vascular disease. Raj is currently associate vice chair of medicine for research and regulatory compliance at the University of Miami Miller School of Medicine, and scientific co-founder of PriZm, working closely with global drug development experts to secure funding for SRW-101 development. A technique for newborn screening developed by Dr. Iwayama using methods developed by Profs. Weiss and Refetoff’s laboratory will ensure diagnosis at birth. Further, a potential for prenatal delivery of PriZm’s lead candidate (SRW-101)’s will prevent the early damage rather than aim at repair. With the emergency IND authorized (in place), this company whose mission is “driven by knowledge, science, and compassion,” is making a difference for the ultra-rare.

Dan Lavery, PhD
Chief Scientific Officer, LouLou Foundation
Director, CDKL5 Program of Excellence, Orphan Disease Center, University of Pennsylvania Perelman School of Medicine

Dan wears multiple hats, as both the Director of the CDKL5 Program of Excellence at the Orphan Disease Center (ODC) and  the Chief Scientific Officer of the LouLou Foundation.  The ODC, a center within the University of Pennsylvania that aims to facilitate drug development for rare diseases (especially those with substantial unmet need), partners closely with the LouLou Foundation, which exists to advance research and drug development for CDKL5 Deficiency Disorder (CDD).  Dan’s dual role across organizations has allowed him to champion scientific advancement for CDD in coordination with various stakeholders including industry, academia, and patient groups alike.  Dan spearheads efforts to enable research collaborations and drives the development of effective therapeutic strategies for the treatment of CDD – a role he has assumed with a distinct passion for scientific progress and the patient community. 

Previously, Dan served as the Director of Discovery Systems Biology at CHDI, a private foundation dedicated to therapeutic development for Huntington’s disease. He has over 20 years of experience in CNS drug development, in disorders such as neuropathic pain, schizophrenia, and ALS, in both pharma and biotech.  His work has focused on using systems biology and ‘omics-scale data mining to identify and validate biological pathways and mechanisms implicated in disease pathology, and repurposing strategies to drive rapid clinical development. 

Dan trained at Johns Hopkins University, Mount Sinai School of Medicine, and the University of Geneva, Switzerland.  He is the author or co-author on over 25 primary research articles, reviews, and book chapters, and is an inventor on several patents relating to technology development and composition of matter for bioactive natural products.

Learn More:
How Come There Are So Many Databases?
Penn Medicine ODC-LouLou Foundation CDKL5 Program of Excellence
LouLou Foundation

Karen Utley, BSN, RN
President, International Foundation for CDKL5 Research
Director of Patient Advocacy, Texas Rare Alliance

Karen’s daughter, Samantha, was diagnosed with CDKL5 Deficiency Disorder in 2008, at 20 months of age. Karen took this devastating diagnosis and turned it into a passion to make a difference in the future of those facing this heartbreaking disorder. In 2009, she co-founded the International Foundation for CDKL5 Research (IFCR), and she currently serves as president. The IFCR is an organization that funds research and provides family support for patients and caregivers affected by CDKL5 Disorders. 

Learn More:
International Foundation for CDKL5 Research

Amy Williford
Senior Director of Communications, n-Lorem Foundation

The non-profit foundation,  n-Lorem, provides personalized ASOs to nano-rare (1-30) patients for free, for life, thereby exemplifying the success of the public-private partnership P3 model.  n-Lorem is the first of its kind to address the needs of nano-rare patients with a non-profit, charitable model.

Dr. Amy Williford, n-Lorem Foundation’s Senior Director of Communications, is a scientist by training.  She received her Ph.D. in Chemistry from The Scripps Research Institute, where she studied the selected binding of transcription factors to DNA.

As a communication professional, Amy has supported multiple high-profile communications programs and managed and led communications for a range of companies across the biotechnology industry.  When able, Amy also teaches chemistry at local community colleges utilizing her skills at translating complex scientific concepts and ideas into concise and easy-to-understand concepts.

Learn More:
Trends in Molecular Medicine: Meeting the Needs of Patients with Ultrarare Diseases
n-Lorem: Offering Hope and Help to Nano Rare Patients
San Diego Biotech Nonprofit Providing  Hope to Patients With Ultra Rare Diseases
n-Lorem Foundation on YouTube
Subscribe to n-Lorem’s podcast series for nano-rare patients
Hope Lies in Dreams


Fostering Successful Connections Between Stakeholders to Accelerate Progress
Multiple sessions to choose from – space is limited!

Yssa DeWoody, PhD
Ex Officio Chair, Rare Epilepsy Network
Cofounder and Director, Ring14 USA 

Yssa DeWoody, PhD, is the Cofounder and Director at Ring14 USA, a non-profit focused on improving the lives of 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 true believer in collaboration as actualized by her commitment to several consortiums including Ring14 International (Cofounder), the Rare Epilepsy Network (Ex Officio Chair), Epilepsy Leadership Council, Epilepsy Learning Healthcare Systems, and the Commission for Neurodevelopmental CNVs (founding partner). 

Learn More:
Epilepsy Leadership Council
Epilepsy Learning Healthcare Systems
Commission for Neurodevelopmental Disorders: Ethos and guiding principles for the commission

Brandy Fureman, PhD
Chief Outcomes Officer, Epilepsy Foundation 

Dr. Brandy Fureman, chief outcomes officer of the Epilepsy Foundation, ensures that the Foundation’s program activities in public health, education, and advocacy work together to result in better outcomes and quality of life for individuals and families living with epilepsies. She is also the principal investigator for the Foundation’s Cooperative Agreement with the CDC and directs the Coordinating Center for the Epilepsy Learning Healthcare System (ELHS), a network of centers that are using quality improvement methods, shared best practices, and co-production with patients and families to improve outcomes for people with epilepsy. 

Learn More:
Epilepsy Learning Healthcare System

Ilene Penn Miller, JD, LLM
Director, Rare Epilepsy Network

Ilene Miller is a thought leader in the rare epilepsy community as well as a caregiver. She serves as the Director for the Rare Epilepsy Network (REN) – 80+ organizations committed to improving outcomes for patients through collaborative research. She consults with Epilepsy Foundation and other nonprofits on strategic, program, and operation planning. She also served as the Epilepsy Leadership Council Advocacy Co-Chair on the 2020/21 NIH National Institute for Neurological Disorders and Stroke (NINDS) Curing the Epilepsies Conference. In 2019, she undertook a landscape analysis of the rare epilepsies engaging leaders of 40+ organizations. 

By 2019, REN had evolved into a network of 50+ organizations each representing a unique disorder collaborating with urgency on research toward improving patient care. Today, REN is a network of 80+ rare epilepsy collaborating across common goals. REN seeks to capitalize on its strength in numbers for otherwise individually rare diseases. 

Learn More:
Rare Epilepsy Registry Network
REN 80+ Members & Partners
REN Volunteer Leaders

The Rare Epilepsy Landscape Analysis (RELA) was initiated in 2018-2019 to better understand the explosion in rare epilepsy diagnoses and organizations. The RELA was commissioned by the Epilepsy Foundation and shared with the broader community. This first-of-its-kind comprehensive survey of rare epilepsy organizations included information about 44 rare epilepsy organizations’ founding, mission, staffing, infrastructure, funding, and more. The RELA identified many shared challenges, as well as opportunities for collaboration around research, information, support, professional education, and advocacy.

RELA Analysis
RELA  Appendix
Raring for Change (Epilepsy and Behavior, 2020)

Curing the Epilepsies is a conference that has been organized every seven years by the American Epilepsy Society (AES) and National Institute for Neurological Disorders and Stroke (NINDS) since 2000 to assess the research landscape in The Epilepsies. The meeting invites scientists, healthcare providers, and patient advocates, as well as representatives of governmental and private agencies. The conference recognizes the complexity of the epilepsies, the magnitude of the human burden, and the need for dedicated research focused on epilepsy. The resultant Epilepsy Research Benchmarks represent overall goals and concrete research priorities developed by and for the epilepsy research community. Again in 2021, the patient advocacy groups aligned under the auspices of the Epilepsy Leadership Council (ELC) to share testimony at the meeting, participate in its planning and collaboratively write  and publish an article advocating for innovative interventions to transform research toward improved outcomes and care for persons with epilepsy, including those living with rare, severe or complex epilepsy. 

Epilepsy Community at an Inflection Point: Translating Research Toward Curing Epilepsy and Improving Patient Outcomes

Tiina Urv, PhD
Program Director, Rare Diseases Clinical Research Network 

Tiina Urv is the program director for the Rare Diseases Clinical Research Network, a multidisciplinary international program in the Office of Rare Diseases Research at the National Institutes of Health that conducts research on about 200 rare diseases at more than 200 participating sites in 17 countries with more than 100 patient advocacy groups as research partners. She collaborates with 10 NIH Institutes, managing 20 consortia and a central Data Management Coordinating Center. Tiina also works with the NIH Common Fund Undiagnosed Disease Network. Her 16-year career at NIH spans management of basic to bio-behavioral research related to developmental disabilities and rare diseases.

Learn More:
Rare Diseases Clinical Research Network (RDCRN)
RDCRN YouTube Channel

Tiina Urv Staff ProfileIncludes biography, research topics and selected publications.

Adeline Vanderver, MD
Program Director, Leukodystrophy Center of Excellence, Children’s Hospital of Philadelphia 

Leukodystrophies are a group of inherited degenerative diseases that affect the white matter in the brain and spinal cord. This collection of approximately 30 disorders is Adeline’s main research interest. She conducts translational research on leukodystrophies and leukoencephalopathies to refine clinical diagnostic tools and accelerate the development of therapeutic treatments.

Adeline and her team aim to uncover the genetic causes of these disorders, establish their molecular mechanisms, develop new diagnosis techniques and develop the next generation of therapeutic clinical trials through natural history and biomarker discovery studies. 

In addition to her clinical and research efforts, Adeline leads the Global Leukodystrophy Initiative, an advocacy group that includes parents, clinicians, and researchers, to raise disease awareness and ensure that patients receive appropriate social and medical support. 

Under her leadership, the multidisciplinary team at the Leukodystrophy Center of Excellence at CHOP, which she leads, is focused on creating new standards of care for children with leukodystrophies, by advancing leukodystrophy research and supporting and advocating for patients and their families.

Learn More:
Global Leukodystrophy Initiative: A Rare Disease Clinical Research Network Consortium
CHOP faculty profile

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