Cassi Friday, Ph.D.

Director of Research, Cure HHT

Session 4: Pitch-Perfect: De-Risking Your Disease to Drive Investment and Collaboration

Dr. Cassi Friday received her PhD in Physiology from the University of Kentucky College of Medicine where she studied a genetic risk factor for late-onset Alzheimer’s disease and how it affects cellular immunometabolism. Dr. Friday has been involved with Cure HHT as a volunteer for close to a decade, offering support to the organization on behalf of her husband and two of their three children who have HHT. Dr. Friday is now the Director of Research Programs and Grants for Cure HHT.

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.

Craig Lipset

Co-Founder and Co-Chair of the Decentralized Trials & Research Alliance

Session 4: Pitch Perfect: De-Risking Your Disease to Drive Investment and Collaboration

Craig is Co-Founder and Co-Chair of the Decentralized Trials & Research Alliance, a global non-profit organization dedicated to the adoption of more accessible clinical research participation. He also serves as Vice President of Innovation for the Buffalo Initiative, a non-profit patient-led platform for the development of new treatments in neglected rare diseases.

Daniel Fischer

President & Chief Executive Officer at Tevard Biosciences

Session 3: Therapeutic Modalities and their Relevance to your Disease

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.

Danny Levine

Global Genes

Session 3: Therapeutic Modalities and their Relevance to your Disease

Daniel Levine is an award-winning business journalist who has reported on the life sciences, economic development, and business policy issues throughout his career. He is principal of Levine Media Group and serves as editor of Global Gene’s RARE Daily, author of its NEXT report, and host of its RARECast podcast. He is also host of The Bio Report podcast and a senior fellow at the Center for Medicine in the Public Interest. Levine has authored and co-authored several books including four editions of Burrill & Company’s annual book series on the life sciences; A Rare Breed, the history of rare disease drug developer BioMarin; and Resilient Together, a history of the cancer therapeutics developer Exelixis.

Ebony Dashiell-Aje, Ph.D.

Executive Director and Head of Patient-Centered Outcomes Science, BioMarin Pharmaceutical

Session 2: Navigating the Drug Development Roadmap – An Overview

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

Elizabeth Buttermore, Ph.D.

Director for Translational In Vitro Models in the Translational Neuroscience Center at Boston Children’s Hospital

Session 2: Navigating the Drug Development Roadmap – An Overview

Elizabeth Buttermore is the Director for Translational In Vitro Models in the Translational Neuroscience Center at Boston Children’s Hospital. She earned her PhD in Neuroscience from the University of North Carolina in 2012 and completed a postdoctoral fellowship at BCH prior to joining the Human Neuron Core in 2016, where her work focuses on developing tools and assays to improve preclinical research pipelines for the identification of novel therapeutic targets for neurodevelopmental disorders.

Krista Vasi, M.P.A.

Executive Director, Usher Syndrome Coalition

Session 5: Developing Data Assets to Support Therapeutic Development

Krista Vasi serves as executive director of the Usher Syndrome Coalition, a global nonprofit dedicated to raising awareness and accelerating research for Usher syndrome, the most common genetic cause of deafblindness. Since 2008, she has forged researcher relationships, strengthened the global Usher community, and expanded data collection efforts to speed science toward treatment for Usher syndrome.

Maya Chopra, MBBS, FRACP

Clinical Geneticist, Boston Children’s Hospital

Session 4: Pitch Perfect: De-Risking Your Disease to Drive Investment and Collaboration

Dr. Chopra is a Clinical Geneticist with expertise in the delineation of rare monogenic neurodevelopmental disorders, and in the characterization of mechanistic underpinnings and disease-relevant endpoints to advance clinical trial readiness. She serves as Director of Translational Genomic Medicine at the Rosamund Stone Zander Translational Neuroscience Center (RSZ TNC), co-Medical Director of Neurogenetics and Neurodevelopment, and Assistant Professor at Harvard Medical School.

Mustafa Sahin, M.D, Ph.D.

Neurologist-in-Chief, Department of Neurology, Boston Children’s Hospital

Session 4: Pitch Perfect: De-Risking Your Disease to Drive Investment and Collaboration

Dr. Sahin is the Neurologist-in-Chief and the first incumbent of the Rosamund Stone Zander Chair at Boston Children’s Hospital and Professor of Neurology at Harvard Medical School. He is the co-PI of the Intellectual and Developmental Disabilities Research Center. He runs a national consortium to study biomarkers and pathobiology of three genetic disorders (TSC, PTEN and SHANK3 variants) all associated with ASD and intellectual disability. He was elected to National Academy of Medicine in 2023.

Sarah Gladstone, M.D.

Chief Scientific Officer, Chief Medical Officer, The Snow Foundation for Wolfram Syndrome Researche

Session 3: Therapeutic Modalities and their Relevance to your Disease

Sarah Gladstone (BA Princeton U, MD Vanderbilt U, Residency Boston Children’s Hospital) was a general pediatrician for 15 years until her child was diagnosed with Wolfram syndrome. She then joined forces with WS researchers and parents to facilitate collaboration and help find a treatment for WS. Having launched the Unravel Wolfram Syndrome Fund and the Wolfram Syndrome Research Alliance, she is honored to now work with the remarkable team at The Snow Foundation for Wolfram Syndrome Research.

Sonia Vallabh, Ph.D.

Adult-Onset Disease Advocate, Director, Prion Therapeutic Science, Broad Institiute

Session 1: Patient Advocates Transforming the Landscape of their Disease

Sonia Vallabh co-runs a prion research lab at the Broad Institute along with her husband, Eric Minikel. They left their previous careers to devote their lives to biomedical research after learning that Sonia had inherited from her mother a mutation that causes genetic prion disease, a rapidly fatal and currently untreatable neurodegenerative disease that typically strikes in midlife. They earned their PhDs from Harvard in 2019 and opened their lab, focused on prion disease drug discovery.

Steven Roberds, Ph.D.

Chief Scientific Officer, TSC Alliance

Session 6: Clinical Trials – Early and Often Practical Framework

Steve joined the TSC Alliance in 2011 as Chief Scientific Officer where he leads the development and execution of the TSC Alliance’s research strategy through partnerships with a wide variety of stakeholders. In 2019 he developed a 7-year, $40 million Research Business Plan to expand TSC Alliance’s research programs. After receiving his PhD in Pharmacology from Vanderbilt University and a postdoc at the University of Iowa he had a 16-year research career in the pharmaceutical industry.

Sukirti “Suki” Bagal, M.D., M.P.H.

Rare Disease Drug Development Expert; Founder, RSVGT Consultancy

Session 2: Navigating the Drug Development Roadmap – An Overview (Moderator)

Sukirti brings with her immense familiarity of the rare/orphan disease landscape that includes an extensive tenure as the Chief Medical Officer at National Organization for Rare Diseases (NORD), and an independent consultant to over 25+ companies in the rare/orphan diseases. Her tenure with industry includes companies such as Pfizer where she established the Medical Affairs function for its Rare Diseases Business Unit. She also has led Clinical Development and Medical Affairs teams at Cara Therapeutics, a late-stage clinical development biotech based out of Stamford CT, and was part of the leadership team with a key role in the company’s first and very successful NDA and EMA submissions and approvals. More recently, Sukirti has also held leadership roles at Vertex and Celldex Therapeutics.  

Susan Faja, Ph.D.

Associate Professor of Pediatrics, Harvard Medical School

Session 5: Developing Data Assets to Support Therapeutic Development

Dr. Faja is an Associate Professor of Pediatrics at Harvard Medical School and a Scientist at Boston Children’s Hospital. As a licensed clinical psychologist with expertise in neuroscience, Dr. Faja is uniquely positioned to employ interdisciplinary methods to improve the lives of autistic people. Her research focuses on understanding social and cognitive function, evaluating novel interventions and assessment tools, and investigating individual brain development and intervention response.

Tim Yu, M.D., Ph.D.

Principal Investigator, Boston Children’s Hospital

Session 3: Therapeutic Modalities and their Relevance to your Disease

Dr. Yu is a neurogeneticist at Boston Children’s Hospital and Harvard Medical School who leads a team devoted to improving the diagnosis and treatment of rare disease. He has pioneered new models for delivering bench-to-bedside care, including creating scientific, clinical, and regulatory pathways for individualized therapies. He is founder of the N=1 Collaborative, an independent nonprofit devoted to developing best practices for interventional genetics.

Walt Kowtoniuk, Ph.D.

Venture Partner, Third Rock Ventures

Session 4: Pitch Perfect: De-Risking Your Disease to Drive Investment and Collaboration

Walt is passionate about making a difference for patients. He spends his days focused on areas where genetics and genomics bring new insight into disease biology. Walt works where science meets business and strategy, enabling insights from the lab to become the next generation of medicines that can change lives. He is enthusiastic about launching companies with emphatic, truly patient centric cultures that effectively and efficiently execute drug discovery.

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

Chair of Pediatrics, Harvard Medical School

Session 5: Developing Data Assets to Support Therapeutic Development

Wendy Chung, M.D., Ph.D., is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and the Mary Ellen Avery Professor of Pediatrics at Harvard Medical School. Dr. Chung directs NIH funded research programs in human genetics of pulmonary hypertension, neurodevelopmental disorders, autism, congenital anomalies. She has led the GUARDIAN study to improve newborn screening for rare diseases.

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.

Yael Weiss, M.D., Ph.D.

CEO of Mahzi Therapeutics

Session 4: Pitch Perfect: De-Risking Your Disease to Drive Investment and Collaboration

Yael Weiss is currently CEO of Mahzi Therapeutics, a company focused on the development of therapies for ultra-rare genetic neurodevelopmental disorders. Mahzi works closely with patient foundations to support their journey towards drug development and bring programs into Mahzi once pre-clinical proof of concept is established.

Zollie Yavarow, Ph.D., M.A.

Director of Scientific Engagement and Collaborations, Cure VCP Diseases

Session 4: Pitch-Perfect: De-Risking Your Disease to Drive Investment and Collaboration

Zollie Yavarow, PhD, MA, is a scientist and ethicist focused on centering the patient voice in drug development and regulatory decisions. As Director of Scientific Engagement and Collaboration at Cure VCP Disease, she leads scientific strategy and patient-driven research. With a decade of rare disease research experience and advanced training in pharmacology and bioethics, she bridges patients, scientists, regulators, and industry to advance equitable, innovative therapies.