Charlene Son Rigby

CEO

Charlene Son Rigby has spent her career building organizations at the intersection of data, technology, and life sciences. Charlene 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. She is committed to finding a cure for her daughter’s disorder. 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 and given her work deeper meaning. Charlene joined RARE-X because she firmly believes that a platform approach is crucial to transforming and accelerating therapy development across rare diseases. She holds a B.A. in Human Biology from Stanford University and an M.B.A. from the Haas School of Business at U.C. Berkeley.

Nicole Boice

Founder & Chief Mission Officer

Nicole Boice is a committed champion of families affected by rare disease. She founded Global Genes in 2008 and grew it into one of the most notable rare disease advocacy organizations focused on educating and empowering patients/advocates throughout their journey. Impact includes a membership of over 750 patient organizations, collaborations with over 100 biopharma and academic research partners, numerous support programs and educational events. RARE-X grew out of the need to provide more tools and resources for families needing to become better equipped data stewards and participants in research. A board member of several patient organizations and advisory roles within Biopharma, Nicole remains an important voice for rare disease patients globally.

Tina Dang

Research Associate

Alexander Farnum Ph.D.

Health Informatics Engineer

Xander’s role as a research coordinator in the Center for Genetic Muscular Disorders at The Kennedy Krieger Institute and The Johns Hopkins Hospital introduced him to the rare disease world and solidified his passion for medicine. Subsequently, he received his Ph.D. in biomedical engineering from Michigan State University where he focused on developing novel diagnostics and therapeutics as well as cutting-edge data analytics. While honing his computational skill set as a machine learning engineer for a government contractor in the research triangle, his firstborn daughter was diagnosed with an ultra-rare neurodevelopment disorder. Xander first served as an external consultant specializing in artificial intelligence before joining Rare-X full-time in May 2025. His technical expertise, guided by sound theoretical principles and scientific rigor, paired with deep personal experiences in the rare disease space offers a unique perspective focused on developing tools that can benefit the rare disease community. Xander also serves on the executive board of a patient advocacy organization, Jack’s Tomorrow, where he actively seeks to advance preclinical research related to PURA syndrome.

Mindy Gikas

Human Resources Advisor

Mindy Gikas has devoted her entire career to elevating the value and reputation of the talent and human resources functions for a variety of industries. As a true business partner, she is sought after by the C-Suite and executive leaders for her straight-forward advice and counsel helping them to be more effective leaders and managers of the business.  

Mindy spent her entire career in human resources leadership roles in a variety of industries including public relations, biotech and hospitality. More recently Mindy devotes her time to providing HR consulting services to smaller companies as well as leadership and career coaching to individuals.

Katelyn Hobbs

Senior Manager, Community Engagement

Katelyn joined RARE-X in June 2022 and brings experience in marketing and communications for nonprofit organizations. She first was introduced to the Rare Disease Community while interning at Global Genes in 2017. Her experience at Global Genes inspired her to declare Nonprofit as her minor in college and has been working in the industry ever since.

Previously, she worked for the Down Syndrome Community and is passionate about accessibility and inclusion for all.

Lisa James

Director, Data Science and Insights

Lisa joined Global Genes in 2011 as an Outreach Manager where she managed the 7,000 Bracelets for Hope Program. Since then, her role and responsibilities have evolved to reflect her skills in technology system analysis and data management. As the Manager of Technology, Lisa handles the organization’s extensive database and platform integrations.

Before joining Global Genes, Lisa worked as a systems analyst for Park Electrochemical Corporation, a global manufacturing company. She holds a Bachelor of Arts in Business Administration, with an emphasis on information technology from California State University, Fullerton. A proud mother of three, Lisa enjoys spending time with her family and paddle boarding.

Lisa James instagramLisa James linkedinLisa James email

Bethany Kraynack

Finance and Operations Lead

Bethany joined RARE-X in January 2020, and brings nearly 20 years of finance, operations, marketing and branding experience to the team, with specific expertise in building and managing non-profit organizations and advocacy alliances.

In addition to her role with RARE-X, Bethany is also Chief Financial Officer of Adjuvant Partners, a business development and strategic advisory consultancy specializing in advanced therapeutics, including cell and gene medicine and AI enabled healthcare. Through her work with Adjuvant, she currently oversees finance and operations for the Alliance for Artificial Intelligence in Healthcare (AAIH) and the ARM Foundation for Cell & Gene Medicine, where she was previously Treasurer (2018) and a member of the Board of Directors (2018 and 2019).

From 2012 – 2020 Bethany served as Vice President of Operations for the Alliance for Regenerative Medicine (ARM), a global advocacy organization representing the cell and gene therapy sector. At ARM, she oversaw all aspects of operations, finance, HR, IT and events, helping grow the organization’s membership from ~80 stakeholders to over 350, and expanded the annual operating budget from less than $1M to $8.5M during her tenure. Bethany was also instrumental in the development of ARM’s conference and event portfolio, including their flagship meeting, the Cell & Gene Meeting on the Mesa, which is widely regarded as the preeminent conference in the sector.

Prior to ARM, Bethany spent seven years with CONNECT, a San Diego-based non-profit organization focused on accelerating the commercialization of new technology and life science companies and products. At CONNECT, Bethany worked closely with emerging companies and entrepreneurs, as well as academic researchers and institutions, to build and oversee a variety of programs and resources aimed at providing mentorship, education and capital for San Diego innovators.

Bethany is a native of Pennsylvania, where she graduated with a B.A. from Gettysburg College. She currently resides in La Jolla, CA with her husband and two daughters.

Cynthia Kuan

Director, Program Operations

Cynthia joined RARE-X in November 2021 and brings 14+ years of experience in building and managing non-profit programs.

She is passionate about accelerating treatments and cures for unmet medical needs and advancing their accessibility and affordability in a coherent and credible manner. Prior to RARE-X, she was a Program Director at the ARM Foundation for Cell and Gene Medicine, managing education material development and state-based rare disease programs. Previously, she was the founding business operations manager of the Sanford Stem Cell Clinical Center at UC San Diego. From 2014 – 2021, she helped secure over $71 million state funding for basic science, translational medicine, and clinical trials at UC San Diego. She also expanded the institution’s first regenerative medicine outpatient clinic, pivoting the clinic to its multi-specialty status. In addition, Cynthia serves on the executive board of the Association for Women in Science’s San Diego chapter, helping advance women in STEM fields.

Cynthia holds a B.A. and M.A. and is currently pursuing an MBA degree from the Haas School of Business at U.C. Berkeley.

Daniel Levine

Life Sciences Writer

Andrea Rogers

Project Lead

Andrea Rogers is an accomplished IT Program and Project Manager with more than 25 years experience in healthcare IT project management. She has extensive expertise in facilitating collaboration across multiple stakeholder groups to achieve strategic objectives. She is passionate about driving innovation in the use of data to improve healthcare.

Previously, Andrea was an IT Program Manager in Real World Technology Solutions for IQVIA. Her responsibilities included implementation and management of multiple registries for a worldwide association of surgeons focused on improving quality and patient outcomes. At Encore Health Resources, she was instrumental in the design, development, implementation and support of multiple software applications to facilitate meaningful use and quality measure reporting. Andrea co-founded i.s.edge, inc. a software company that developed and implemented The Project Network, a web-based project management tool. She has worked as a consultant with healthcare organizations including MD Anderson Cancer Center and Tenet Healthcare in software selection, implementation, optimization and process improvement.

Andrea has a Bachelor’s degree from Texas A&M University in Applied Mathematical Sciences. She lives in The Woodlands, Texas.

Catherine Strandt DMSc

Clinical Research Fellow

Zohreh Talebizadeh, Ph.D.

Senior Director, RARE-X Research Program

Zohreh Talebizadeh leads the RARE-X Research Program as Senior Director and serves as the Principal Investigator for RARE-X. Over the past two decades, her research endeavors  have focused on neurodevelopmental disorders, genetics, epigenetics, data science, and patient-centered outcomes research. Her collaborative spirit shines through her strong partnerships with diverse stakeholders, including patient advocates. With over 15 years of experience leading multidisciplinary research projects, Zohreh’s passion for patient-centered research led her to launch a unique initiative promoting the integration of patient perspectives in genetics research.

Zohreh earned her PhD in Genetics from the University of Nebraska Medical Center in Omaha, NE, where she focused her research on the genetics of hearing loss. As a postdoctoral fellow at Children’s Mercy Hospital (CMH) in Kansas City, MO, she deepened her expertise in rare genetic disorders related to neurodevelopmental conditions. Prior to her current role at Global Genes, she served as a Translational Research Manager at the American College of Medical Genetics and Genomics, contributing to the NICHD-funded Newborn Screening Translational Research Network program.

Beyond her professional pursuits, Zohreh has dedicated her personal time and resources to championing human rights causes, amplifying the voices of the marginalized. This has deepened her appreciation for the significance of prioritizing community needs and fostering equity and diversity.

Karmen Trzupek, MS, CGC

Senior Director of Scientific Programs

Karmen Trzupek is a passionate and innovative leader in rare disease programming, with experience in academia, telemedicine, advocacy, and industry. At Rare-X, Karmen develops collaborative ecosystems and partnerships to maximize the Rare-X data platform for the advancement of patient advocacy groups and industry-supported therapeutic pipelines. Previously, Karmen served as the Director of Clinical Trial Services at InformedDNA, supporting patients with genetic diseases to navigate clinical trial eligibility and enrollment through partnerships between biotech companies, patient advocacy groups, and academic and community clinics. 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.  She holds a B.S. in Microbiology from the University of Illinois and an M.S. in Genetic Counseling from Northwestern University.

Barry Weber, CIPP/US, CISM, ITIL

Data Protection Officer(DPA)/Chief Information Security Officer (CISO)

Barry Weber joined RARE-X in April 2022 as the Chief Information Security Officer (CISO) and Data Protection Officer (DPO). He leads the Global Genes privacy and data security compliance initiatives for EU GDPR, UK GDPR, US and other country specific privacy laws. He holds ITIL, CISM and CIPP certifications.

Prior to joining Global Genes, Barry was a privacy and data security consulting leader for organizations including those delivering background check, CPA and ecommerce services. And he has a multi-industry technology leadership history as CIO for Barnes and Noble, Lieberman Research, and Columbia Pipe and Supply and consulted for PwC and Unisys. He is a member of the Society of Information Management (SIM) and IAPP and participates in the FBI InfraGard program.

As a pastime, Barry enjoys officiating soccer games for all ages, teaching and mentoring referees.

Victoria Weiss

Senior Director, Finance

Victoria holds a bachelor’s degree in Mathematics from the University of California, Santa Barbara, and an MBA degree from Dartmouth College. She has spent her 15+ year post MBA career in a Finance and Operations capacity. She spent the majority of her career working with large, multi-national, high tech companies.

In 2018, Victoria decided to leave the for-profit corporate environment and use her skills to support non-profit, mission-based organizations. She has worked as a Finance and Strategy Executive for three different non-profit organizations that support education, animal welfare, and now healthcare with Global Genes. Victoria is personally passionate about all these causes and enjoys dedicating her time to helping organizations that make a difference.Victoria also serves as a board member for the nonprofit, Nurse’s Educational Funds, Inc.

Michele Whiteside

Director, Programs & Events

Nicole Boice

Founder & Chief Mission Officer

Nicole Boice is a committed champion of families affected by rare disease. She founded Global Genes in 2008 and grew it into one of the most notable rare disease advocacy organizations focused on educating and empowering patients/advocates throughout their journey. Impact includes a membership of over 750 patient organizations, collaborations with over 100 biopharma and academic research partners, numerous support programs and educational events. RARE-X grew out of the need to provide more tools and resources for families needing to become better equipped data stewards and participants in research. A board member of several patient organizations and advisory roles within Biopharma, Nicole remains an important voice for rare disease patients globally.

Khrystal Davis

Founding President, Texas Rare Alliance

Khrystal K. Davis is a Texas-based rare disease advocate and the founder of the Texas Rare Alliance. She is also the mother of a child with Spinal Muscular Atrophy (SMA) Type 1. Davis is known for her work advocating for newborn screening and access to treatments for rare diseases. She has testified before Congress on these issues and has been recognized for her advocacy efforts. Her work includes advocating for policies that accelerate the development of rare disease treatments and ensuring access to those treatments. 

Wendy Erler

Senior Vice President, Sarepta Therapeutics

Session 6: Clinical Trials – Early and Often Practical Framework

With a true passion for patients and dedication to connecting people in need to resources, services and people, Wendy has built her career in patient advocacy in many rare disease communities and oncology. Wendy Erler is the Senior Vice President of Patient Affairs at Sarepta Therapeutics where she leads the Patient Affairs team. Building a strong patient engagement strategy, she works to ensure patient centered outcomes across all areas of clinical development and commercialization. She is championing the adoption of patient-centric concepts and practices across the company while building trusted partnerships with patient advocacy organizations.

Ilana Fogelman, M.D., MPH

MiCure

Simon Frost

Oxford Capital

Christina Hartman

Senior Director, Government Affairs, Orchard Therapeutics

Christina Hartman leads government affairs for Orchard Therapeutics, a Kyowa Kirin company and gene therapy leader focused on ending the devastation caused by genetic and other severe diseases by discovering, developing, and commercializing new treatments that tap into the curative potential of hematopoietic stem cell (HSC) gene therapy. Before that, she led government affairs for bluebird bio, another rare disease gene therapy company. Christina is an active supporter of research for and education about her daughter Charlotte’s ultra-rare neurodevelopmental disorder, NAA10. Before moving to the corporate side, Christina served as the Alliance for Regenerative Medicine (ARM)’s first-ever head of US Government Relations, where she leveraged the network, she assembled over the past 25 years on the ground in Washington, DC to advance the priorities of the regenerative medicine sector. With a deep background in policy, government relations, alliance building and issue advocacy, she is committed to shaping an environment in Washington conducive to the discovery, development approval and accessibility of durable, potentially curative cell and gene therapies. Before arriving at ARM, Christina built and led the Washington office of The Assistance Fund (TAF), where she advocated for patients to have access to all required clinical care, diagnostic testing, and treatment at an out-of-pocket cost within reach, regardless of socioeconomic status. Prior to that, Christina led policy and advocacy efforts to advance treatment and diagnostic opportunities for rare disease patients at the EveryLife Foundation, launching them for the first time in Washington, DC following their move from Novato, California. At the Pew Charitable Trusts, she worked with a broad range of partners to advance legislative goals to incentivize the development of new antibiotic drugs. Early in her career, Christina served as an analyst at the US Department of Health and Human Services, including with the Biomedical Advanced Research and Development Authority (BARDA). Christina has a Master of Public Health (MPH) with a concentration in epidemiology from the George Washington University School of Public Health. She is passionate about advocating, influencing, and shaping policies that provide access to new innovations for those impacted by rare diseases, and is motivated every day to advance these priorities as a direct result of her experience raising a child with an ultra-rare neurodevelopmental disorder.

Hugh Hempel

Executive Director, N=1 Collaborative

Hugh Hempel is a Rare Dad, Citizen Scientist, and the Executive Director of the N=1 Collaborative. As a rare dad, Hugh facilitated the development of treatment for his identical twins diagnosed with a rare and fatal genetic disease called NP-C (Childhood Alzheimer’s). Hugh immersed himself in science, medicine, and healthcare policy in a valiant yet unsuccessful attempt to save his own children. Now, it is his life’s calling to champion the changes needed to provide treatments for millions of children who are dying yearly from rare diseases. Hugh has extensive experience working with United States federal health agencies. For several years he worked with the FDA’s Center for Drug Evaluation and Research (CDER), to ensure that the drug he was championing, Cyclodextrin, was safe and effective to provide to NPC patients worldwide. He also worked extensively with the NIH. The Hempels were active participants in the natural history studies and Cyclodextrin phase I clinical trial design with the NICHD. They also collaborated with NCATs in the development of a high-throughput drug screening process to identify repurposing opportunities. Hugh believes deeply in the importance of “open source” collaboration throughout the healthcare ecosystem and has fought to encourage academia, industry, and government to more openly share data. Through the Addi & Cassi Foundation, the Hempels funded the creation of a genetically identical mouse models. They also participated in a collaboration with the Whitehead Institute in the creation of a stem cell program to create a neuronal model representing the specific genetics of both parents and the twins.

Ram Iyer

Enterprise Architect

Ram is a recognized data and technology professional with experience in the Pharma, Consulting, and Telecom industries as well as in international government organizations. His expertise includes Data and Decision Sciences, Digital and Technology Architecture, as well as Talent Development with a focus on building collaborative partnerships and ecosystems.

In his leadership roles, Ram has jumpstarted several data and analytics practices, including enterprise class platforms for reproducible research, model management, and visual analytics.  Additionally, Ram built a thriving network of data scientists, data analysts, visual storytellers, and agile specialists to tackle urgent and complex problems in the organization.

Walt Kowtoniuk, Ph.D.

Venture Partner, Third Rock Ventures, Board Chairman

Neil Kumar, MS, Ph.D.

CEO & Founder, BridgeBio

Katherine Maynard

Partner, PWR

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.

Kelly McVearry, Ph.D., MA, EdM

CEO & Chairman, BentoBio

Kelly McVearry is CEO and Co-Founder of Bento Biology Platforms and Chairman and Managing Partner of Hypatia. Kelly is a scientist, technologist and investor with 25 years of experience helping Fortune 500 corporations, governments and private companies develop horizon technologies, from precision medicine to national cybersecurity. Prior to Hypatia, she served as senior scientist for strategy and R&D at Northrop Grumman, led R&D and Product at Ekagra Software, and supported the commercialization of twelve technology ventures. Kelly received a PhD in neuroscience with distinction from Georgetown and a masters in cognitive psychology from Harvard.

Indu Navar

CEO and Founder, EverythingALS

Indu Navar is CEO of EverythingALS. Over the past 20 years, Indu has served as CEO, founder, board member, and investor of several Silicon Valley software companies, during which she led the development of innovative products resulting in successful exits. In 2019, after Indu lost her husband to ALS, a neurodegenerative disease, she is focused on bringing AL/ML on physiological data to help discover digital biomarkers for brain diseases. Earlier, Indu was managing director at Woodside Capital Partners, where she advised software companies on strategic financing and M&A. Indu was founder and CEO of Serus Corporation, provider of SAAS solution for companies with outsourced manufacturing. Serus was acquired by E2Open. Indu was early in the founding team of Healtheon, WebMD. She started as an engineer at Silicon Graphics and NASA in Moffett Field.

David Pearce, Ph.D.

University of South Dakota

David Pearce is President of Innovation and Research for Sanford Health. He completed his undergraduate Bachelor of Science Degree with honors in biological sciences at Wolverhampton Polytechnic in 1986. He gained his PhD in 1990 at the University of Bath, UK, and did postdoctoral training at the University of Rochester, U.S., and Oxford University, UK. Dr. Pearce heads the leading lab in Juvenile Batten disease research. He has been researching Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease) since 1997. His research has led to the first clinical trial for Juvenile Batten disease. He has published over 100 research papers on Batten disease. He also oversees a national registry for rare diseases known as the Coordination of Rare Diseases at Sanford (CoRDS). He has served on numerous NIH review committees, has organized rare disease workshops for the National Institute for Neurological Disorders and Stroke (NINDS) arm of the National Institutes of Health (NIH) and the vice chair of the International Rare Diseases Research Consortium (IRDiRC).

In his role as President of Innovation and Research at Sanford he is responsible for overseeing the development of research programs across Sanford’s nine-state footprint, including more than 450 researchers, eight research centers and more than 300 ongoing clinical trials. With this, he is also responsible for commercialization of select research strategies, as well as integrating Sanford Research operations into Sanford Health International Clinics. Driven by Dr. Pearce’s passion for developing patient-centered, impactful research programs Sanford Research is uniquely positioned to provide translational research that can bring important discoveries from bench to bedside, improving the quality of care.

Morrie Ruffin

Managing Partners, Adjuvant Partners

Mr. Ruffin has more than 25 years of experience in the regenerative medicine, biotech, and healthcare industries. Prior to founding Adjuvant Partners, he was the Chief Executive Officer of LifeTech Innovations, LLC, a business development consulting firm based in Bethesda, MD. Prior to his position at LTI, Mr. Ruffin was Executive Vice President of Capital Formation and Business Development at the Biotechnology Industry Organization (BIO), the largest trade organization representing the biotech and drug development industries. Joining BIO in 1994 as one of its original employees, Mr. Ruffin was responsible for building the organization’s global business development and investor outreach programs focused on helping companies raise capital and identify strategic partnering and licensing opportunities. This BIO business development franchise is now the largest in the world, with operations in the US, Europe, and Japan.

Mr. Ruffin has also founded and led several other key industry organizations in the life sciences sector, with a primary focus on cell and gene medicine and the application of artificial intelligence in healthcare. From September 2009 – December 2019, he co-founded, built and led the Alliance for Regenerative Medicine (ARM), the foremost global advocacy organization representing the interests of the cell and gene therapy and tissue engineering communities. In January 2018 he led the effort to establish the ARM Foundation for Cell and Gene Medicine and has served on its Board of Director’s and as the Executive Director since its launch. He also co-founded the Standards Coordinating Body for Regenerative Medicine and continues to serve on its’ Board of Directors and was founder and Board member of the Interoperable Informatics Infrastructure Consortium (I3C), an international standard setting body for the bioinformatics industry. Most recently, Mr. Ruffin co-founded the Alliance for Artificial Intelligence in Healthcare (AAIH) in 2019, a multi-stakeholder advocacy organization comprised of technology developers, pharma companies, and research organizations with a common goal of realizing the potential for AI in healthcare to significantly improve quality of care.

Prior to his work in the private sector, Mr. Ruffin worked for U.S. Senator Arlen Specter for five years as his senior legislative assistant. In his early career, he worked for the Systems Planning Corporation International and the Center for Strategic and International Studies. Mr. Ruffin received his MA in International Studies & Economics from the Johns Hopkins School for Advanced International Studies (SAIS) and his BA from the University of Virginia.

Alvin Shih, M.D.

CEO, Imbria Pharmaceuticals

Alvin is an experienced biopharma executive with more than 15 years of clinical and drug development experience, encompassing the full spectrum from discovery/translational to post-marketing programs. He has worked in multiple therapeutic modalities, including cell/tissue therapy, enzyme replacement, and small molecule approaches. Alvin is a rare disease specialist with a successful track record in building and managing complex organizations to accomplish end-to-end drug development. Alvin was most recently President and CEO of Disarm Therapeutics. Prior to Disarm Therapeutics, he was CEO of Enzyvant Therapeutics, a development-stage biotechnology company. Prior to Enzyvant, he was Executive Vice President and Head of R&D at Retrophin, where he managed the development and progress of a diverse pipeline encompassing rare neurological and renal diseases. Earlier in his career, he was a founding member of Pfizer’s rare disease research unit. He was also previously a management consultant for L.E.K. Consulting and McKinsey & Company.
Alvin holds an M.D. from the University of Alabama and an MBA from the Kellogg School of Management at Northwestern University. He completed his residency training in internal medicine at Massachusetts General Hospital.

Charlene Son Rigby

CEO, Global Genes

Session 1: Patient Advocates Transforming the Landscape of their Disease

Session 6: Clinical Trials – Early and Often Practical Framework

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.

Dan Chung, DO, MA

SparingVision

Dr Chung, Chief Medical Officer of SparingVision, is a highly respected healthcare leader with a demonstrated history working in the biotechnology industry, with experience spanning all phases of ocular gene therapy development, from pre-clinical studies through to clinical development and post marketing activities. Dr Chung joined Spark in 2014 and, as the company’s first ophthalmologist, was instrumental in the development of Luxturna™, the first in vivo gene therapy approved by the US Food and Drug Administration (“FDA”) for RPE65 related inherited retinal disease. He also later led the medical affairs group responsible for its safe and efficient use in patients. During his tenure at Spark, he served as the inherited retinal disease and ophthalmology expert across various company divisions, not only training preclinical staff for in vivo surgical procedures, but also working in medical affairs, clinical development, patient advocacy, marketing and commercial activities.

Before joining Spark, Dr Chung worked for 11 years at the Scheie Eye Institute within the Perelman School of Medicine at the University of Pennsylvania, specializing in gene based therapies for inherited retinal diseases and cilia mediated disease. Dr Chung received his medical degree from the New York College of Osteopathic Medicine in 1994 and undertook extensive postgraduate training at the National Eye Institute, Summa Health Systems and Cole Eye Institute at the Cleveland Clinic Foundation.

Wendy Chung, M.D., Ph.D.

Boston Children’s Hospital and Harvard Medical School

Wendy Chung, MD, PhD is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School. Dr. Chung directs NIH funded research programs in human genetics of pulmonary hypertension, breast cancer, obesity, diabetes, autism, birth defects including congenital diaphragmatic hernia and congenital heart disease.

Dr. Chung is a national leader in the ethical, legal, and social implications of genomics. She was the recipient of the Rare Impact Award from the National Organization of Rare Disorders, and is a member of the National Academy of Medicine and the American Academy of Physicians. Dr. Chung received her B.A. in biochemistry from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics.

Scott Demarest, M.D.

Children’s Hospital Colorado

Dr. Scott Demarest is an associate professor in the Department of Pediatrics, Division of Neurology. He is board certified in Child Neurology and Epilepsy. His clinical practice and research focus on the evaluation and treatment of neurogenetic conditions. This includes clinical trials for novel therapeutics, natural history studies and the development of improved outcome measures for neurogenetic conditions.

Ilana Fogelman, M.D., MPH

MiCure

Rachel Groth, Ph.D.

Neuren Pharmaceuticals Ltd

Rachel has more than 10 years’ experience leading drug discovery and early development efforts in industry across diverse therapeutic areas (e.g., neuroscience, immunology, renal, and oncology) and drug modalities (e.g., small molecules, monoclonal antibodies, and antisense oligonucleotides). Before joining BridgeBio, Rachel held roles of increasing responsibility at Pfizer and Biogen. Rachel earned her B.A. in Biology and Neuroscience from Macalester College, her Ph.D. in Neuroscience from the University of Minnesota, and completed her postdoctoral training in Molecular and Cellular Physiology at Stanford University.

Jeanette McCarthy, MPH, Ph.D.

Precision Medicine Advisors

Jeanette McCarthy is a genetic epidemiologist by training, receiving her MPH and PhD from UC Berkeley under the mentorship of geneticist Mary-Claire King. She spent the early part of her career at Millennium Pharmaceuticals (now Takeda) before moving to academia, serving on the faculty at San Diego State University and then Duke University in the Institute for Genome Sciences and Policy. Most recently she was VP of Precision Medicine at the bioinformatics company Fabric Genomics where she led Product and their clinical interpretation services. She currently provides consulting services to the genetic testing industry, as a content expert on the various uses of genetic testing in clinical practice. Over the years she has become an internationally-recognized leading educator in precision medicine, reaching thousands of learners through her online Precision Medicine Academy.

Tim Miller, Ph.D.

Forge Biologics

Timothy J. Miller has over 20+ years of business development, scientific research, product development and clinical operations expertise, with a focus on transitioning novel gene and cell therapies through pre-clinical and Phase 3 human clinical trials. He is an avid patient-centric drug developer and entrepreneur. Timothy was previously CEO, President and Co-Founder of Forge Biologics, Inc., a VC-backed gene therapy development engine focused on accelerating access to potentially life-saving AAV gene therapies. Prior to founding Forge, Dr. Miller co-founded Abeona Therapeutics, a rare disease gene and cell therapy company. He served as Abeona’s CEO and President from 2012-early 2018, taking the company public in 2015. He is a proven biotech leader with experience in driving gene therapy pipeline development, regulatory strategy, investor relations, M&A activities, licensing, GMP manufacturing, clinical development, and leading stakeholder/shareholder engagement. Dr. Miller earned degrees in Pharmacology (Ph.D.) and Biology/Molecular Science (M.S. and B.S.) from John Carroll University.

David Pearce, Ph.D.

University of South Dakota

David Pearce is President of Innovation and Research for Sanford Health. He completed his undergraduate Bachelor of Science Degree with honors in biological sciences at Wolverhampton Polytechnic in 1986. He gained his PhD in 1990 at the University of Bath, UK, and did postdoctoral training at the University of Rochester, U.S., and Oxford University, UK. Dr. Pearce heads the leading lab in Juvenile Batten disease research. He has been researching Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease) since 1997. His research has led to the first clinical trial for Juvenile Batten disease. He has published over 100 research papers on Batten disease. He also oversees a national registry for rare diseases known as the Coordination of Rare Diseases at Sanford (CoRDS). He has served on numerous NIH review committees, has organized rare disease workshops for the National Institute for Neurological Disorders and Stroke (NINDS) arm of the National Institutes of Health (NIH) and the vice chair of the International Rare Diseases Research Consortium (IRDiRC).

In his role as President of Innovation and Research at Sanford he is responsible for overseeing the development of research programs across Sanford’s nine-state footprint, including more than 450 researchers, eight research centers and more than 300 ongoing clinical trials. With this, he is also responsible for commercialization of select research strategies, as well as integrating Sanford Research operations into Sanford Health International Clinics. Driven by Dr. Pearce’s passion for developing patient-centered, impactful research programs Sanford Research is uniquely positioned to provide translational research that can bring important discoveries from bench to bedside, improving the quality of care.

Steve Rodems, Ph.D.

Travere Therapeutics

Steve Rodems, PhD has over 15 years of experience in the biotechnology and pharmaceutical industries. Steve has held various roles throughout their career, including Vice President of Research and Nonclinical Development at Travere Therapeutics, where they are currently employed. Steve has also served as an Executive Director and Head of Research at Travere Therapeutics, overseeing research strategy for core therapeutic areas. Before joining Travere Therapeutics, they worked as a Principal Consultant at Tybema BioSolutions, specializing in biology, assay technologies, and pre-clinical drug discovery. Prior to that, they held positions at Vertex Pharmaceuticals and Ansata Therapeutics. Steve also has experience as a Group Leader at Aurora Biosciences/Vertex Pharmaceuticals. Steve Rodems obtained their Ph.D. in Biology and completed a Postdoctoral Fellowship at the University of California, San Diego.

Steve Rodems has a Doctor of Philosophy (PhD) in Biochemistry from the University of Wisconsin-Madison. Steve also has a Bachelor of Arts (BA) degree in Chemistry/Biochemistry from UC San Diego.

Eric Sid, M.D.

NIH, National Center for Advancing Translational Sciences

Eric Sid, M.D., M.H.A. is a Program Officer at the NIH’s National Center for Advancing Translational Sciences (NCATS) in the Office of Rare Diseases Research where he manages programs aimed at providing consumer health information, facilitating patient-centered research, and the development of data science resources to foster translational science research in rare diseases. Dr. Sid also coordinates NIH collaborations involving patients, patient groups and other agencies, and has served on committees covering data standards in regenerative medicine, modernizing informed consents for international researchers, and Academy Health’s Public Health Systems Interest Group advisory committee.

His research interests include the diagnostic odyssey of rare disease patients, systems-level methods to address health disparities, data science in population health management, and collaborative patient-centered research practices. Dr. Sid received his M.D. and M.H.A. from the University of Washington and was a Presidential Management Fellow, which is the Federal government’s flagship leadership development program.

Alison Skrinar, Ph.D.

Ultragenyx

Vice President
Endpoint Development and Strategy

Dr. Skrinar is a pediatric neuropsychologist specializing in motor and cognitive disorders. She has been involved in rare disease drug development for almost 25 years and specializes in study design and endpoint selection for rare disease trials.

Audrey Thurm, Ph.D.

National Institute of Mental Health (NIMH)

Audrey Thurm, Ph.D., is Director of the Neurodevelopmental and Behavioral Phenotyping Service in the Office of the Clinical Director, part of the National Institute of Mental Health (NIMH)’s Intramural Research Program (IRP). After receiving a B.S. in human development from Cornell University, she received training in child clinical psychology at DePaul University, trained as an intern at Boston Children’s Hospital/Harvard Medical School, and conducted a post-doctoral fellowship at Johns Hopkins School of Medicine. She has been at NIMH since 2002, serving in the extramural program until 2006, at which time she moved to the IRP to engage in research on autism spectrum disorder (ASD) and other related neurodevelopmental disorders.

Ashley Winslow, Ph.D.

Odylia Therapeutics

Ashley Winslow is CEO and Chief Scientific Officer of Odylia Therapeutics, a nonprofit biotech focused on accelerating drug development for rare diseases. Odylia develops therapeutics in collaboration with patient groups and a strategic network of CROs, academic partners, and industry, with the aim of bringing life changing therapeutics to patients. Ashley received her PhD in Medical Genetics from the University of Cambridge and completed her postdoctoral work at Massachusetts General Hospital and Harvard Medical School. Before joining Odylia, Ashley worked in the Precision Medicine and Human Genetics and Computational Biomedicine group at Pfizer and the Orphan Disease Center at the University of Pennsylvania. 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. Ashley serves on the International Angelman Syndrome Research Council (INSYNC-AS), CHAMP1 Scientific Advisory Board, Innovative Genomics Institute (IGI) Affordability Task Force, and the RARE-X/ Global Genes Scientific Advisory Board