Alison Lawton, BSc Hons

Chair, Dianthus Therapeutics

Pitch Track 3: Immune & Connective Tissue Function

Alison is Chair of the Board at Dianthus & TrimTech Therapeutics and a seasoned biotech executive with deep experience in orphan disease drug development. Over more than 20 years at Genzyme, she advanced therapies for underserved communities by leading global regulatory, policy, market access, and commercial teams. She later served as COO of X4 Pharma & Aura Biosciences and then as CEO of the publicly traded Kaleido Biosciences, all of which were pioneering new therapies for orphan diseases.

Amy Comstock Rick, J.D.

Director, Rare Disease Innovation Hub at the FDA

Session 4: Regulatory Update: Innovative Paths to Therapy Development & Scalability

Amy Comstock Rick, J.D., is the Director of FDA’s Rare Disease Innovation Hub (the Hub). She serves in a cross-cutting role across FDA’s Center for Drug Evaluations and Research (CDER), Center for Devices and Radiological Health (CDRH), and Center for Biologics Evaluation and Research (CBER) to facilitate implementation of the Hub. The Hub is a cross-center FDA initiative that promotes internal and external engagement for the purpose of advancing rare disease medical product development.

Ankit Malhotra Ph.D.

Global Head of Genomics, Strategy and Solutions, Amazon Web Services

Pitch Session – Main Stage

Ankit Malhotra, Ph.D., is Global Head of Genomics Strategy and Solutions at Amazon Web Services. He advises health systems, biobanks, and rare disease research programs on the cloud and AI infrastructure required to accelerate genomic diagnosis and therapeutic development at population scale — from newborn screening pipelines to federated data architectures that enable cross-institutional collaboration without compromising patient privacy.

Ashley Winslow, Ph.D.

CEO, CSO at Odylia Therapeutics

Session 1: Build it and They Will Come: Datasets that De-Risk Therapeutic Development & Attract Investment

Ashley Winslow, Ph.D., is CEO and Chief Scientific Officer of Odylia Therapeutics, a nonprofit biotech advancing treatments for rare diseases through partnerships with patient groups, researchers, CROs, and industry. Previously, she led portfolio development and translational research at the Orphan Disease Center (U. of Pennsylvania) and held roles at Pfizer, MGH and Harvard. She earned a Ph.D. in Medical Genetics from the University of Cambridge and serves on multiple rare disease advisory boards.

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Aubrie Soucy Verran

Project Manager & Bioinformatician, Boston Children’s Hospital

Expert Office Hours

Aubrie is Project Manager and Senior Bioinformatics Scientist in Dr. Tim Yu Lab at Boston Children’s Hospital. She has a decade of experience working to advance precision genetic therapies for rare diseases from the bench to the clinic by overseeing research programs and coordinating IND-enabling studies. She also uses bioinformatic pipelines to analyze next generation sequencing data and evaluate genetic variants for ASO therapies.

Audrey Thurm, Ph.D.

Associate Professor of Psychology in Department of Psychiatry and Behavioral Science; Faculty, Translational Neuroscience Center – Boston Children’s Hospital

Interactive Breakout: Endpoint Development in Clinical Trial Prep

Dr. Thurm is a clinical scientist and a child clinical psychologist focused on phenotyping and outcome measures for genetic conditions associated with neurodevelopmental disorders (GCAND). Dr. Thurm spent over two decades working at the National Institute of Mental Health, and initiated and directing a Neurodevelopmental and Behavioral Phenotyping Service that has provided her with extensive experience in conducting research on assessment of neurodevelopment in rare genetic conditions.

Brett Abrahams, Ph.D.

President & Founder at Heppinn Biosciences

Pitch Track 1 Judge: Neurodevelopmental Disorders & Epilepsy

Dr. Abrahams is founder and President of Heppinn Biosciences, a consulting practice launched to support venture investors, biotechs, and foundations on scientific strategy and asset development. He’s also the CSO of the AUTS2 Research Collaborative and an advisory board member for Autism Speaks, CureShank, CombinedBrain, FAST, and Accelerator Life Science Partners. He has led R&D at public and private biotechs, and his peer-reviewed research has been cited more than 15,000 times.

Casey McPherson

CEO, AlphaRose Therapeutics

Interactive Breakout: Using AI in Early-Stage Drug Discovery

Casey McPherson is a drug developer, entrepreneur, and singer-songwriter based in Austin, Texas.

As his daughter, Rose, was diagnosed with a rare genetic condition, he eventually founded To Cure A Rose Foundation and RareLabs, which now has 20 programs in the pipeline and 8 newly-discovered treatments.

In 2023, he launched AlphaRose Therapeutics to commercialize genetic medicines at scale. Casey continues building precision medicine solutions while enjoying life with his two daughters.

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Charlene Son Rigby

CEO, Global Genes

Opening Fireside Chat: Parent-Led Development – From Cell Lines to Dosing Patients, The FOXG1 Story

Fireside Chat: Scaling N of 1 – A Collective Effort

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.

Christina Hartman, MPH

Head of Government Affairs at Orchard Therapeutics

Session 4: Regulatory Update: Innovative Paths to Therapy Development & Scalability

Christina 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. She also serves on the board of the rare disease non-profit Global Genes. Christina is an active supporter of research for and education about her daughter Charlotte’s ultra-rare neurodevelopmental disorder, NAA10, now also known as Ogden Syndrome.

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Clark Paramore, MSPH

Head of Global Value Evidence Strategy at Biogen

Session 5: Market Access for Rare and Utrarare Communities: We Can’t Wait Until the Approval Comes

L. Clark Paramore, MSPH, is Global Head of Value Evidence Strategy at Biogen, Inc, based in Cambridge, MA. Clark leads a team of health economists focused on developing and executing on value demonstration strategies for Biogen’s pipeline products. Target therapeutic areas include Alzheimer’s Disease, rare neuromuscular diseases, lupus and nephrology. Clark is actively engaged in assessing the relevance and application of existing value frameworks for innovative therapies.

Dan Ollendorf, Ph.D., MPH

Chief Scientific Officer and Director of HTA Methods & Engagement at the Institute for Clinical and Economic Review

Session 5: Market Access for Rare and Ultrarare Communities: We Can’t Wait Until the Approval Comes

Dan Ollendorf is Chief Scientific Officer and Director of Health Technology Assessment (HTA) Methods and Engagement at the Institute for Clinical and Economic Review (ICER), with responsibility for managing the organization’s internal health economics capacity and program of external collaboration, as well as collaboration with international HTA bodies and other stakeholders on key process and methods topics. He also maintains a part-time faculty appointment at CEVR at Tufts Medical Center.

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Dana Layo-Carris, Ph.D.

Senior Study Director, The Jackson Laboratory

Interactive Breakout Session: Do I have the right models to Advance my Development

Dana Layo-Carris is a Senior Study Director at the Rare Disease Translational Center at The Jackson Laboratory, where she leads translational research programs focused on advancing therapies for rare genetic diseases. Her expertise spans disease modeling, preclinical development, ASOs, gene therapy, and gene editing. She is passionate about building partnerships across the rare disease community and accelerating the translation of scientific discoveries into meaningful treatment opportunities.

Daniel Levine, AB, MJ

Life Sciences Writer at Global Genes

Session 6: Reimagining Industry–Advocacy Collaboration in Drug Development

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 founded Levine Media Group in 2013 to provide content, research, and analysis to life sciences clients across the corporate, nonprofit, and government sectors. He is host of The Bio Report and RARECast podcasts, producer of Life Sciences D’n’A podcast, and a senior fellow at the Center for Medicine in Public Interest.

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Erica Cox, Ph.D.

Executive Director, Head of Clinical Regulatory at Denali Therapeutics

Session 3: Successes and Lessons Learned from Recent Rare Disease Drug Approvals and Clinical Trials

Erica Cox, Ph.D., Executive Director, is the Head of Clinical Regulatory at Denali Therapeutics, where she leads regulatory strategy for therapies for rare and neurodegenerative diseases. She has over fourteen years of experience in clinical regulatory, including most recently leading the filing for a rare pediatric therapy under accelerated approval. She is passionate about partnering with patients, advocates, clinicians, and regulators to bring novel therapies to patients.

Gabrielle Conecker, MPH

Executive Director & Co-Founder at International SCN8A Alliance

Pitch Session by Disease Area: Neurodevelopmental Disorders & Epilepsy

Gabi Conecker, MPH is mom to Elliott, a teenager who is profoundly impacted by SCN8A-DEE. She is a patient advocate, nonprofit leader, and lay-researcher dedicated to improving care, quality of life, treatments and outcomes for those affected by SCN8A and other developmental and epileptic encephalopathies (DEEs). She is the Executive Director and Co-Founder of Decoding Developmental Epilepsies, which houses the International SCN8A Alliance, DEEP and The Inchstone Project.

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Hélène Dassule, Ph.D.

Head of Excellence, Scientific Communications, Alexion AstraZeneca Rare Disease

Interactive Breakout Session: From Community Insight to Scientific Impact: Publishing and Amplifying Rare Disease Evidence

Expert Office Hours

Hélène Dassule, Ph.D, is the Head of Strategy and Excellence for Global Scientific Communications at Alexion, AstraZeneca Rare Disease. She leads strategies that support the delivery of meaningful, ethical, and transparent publications and scientific communications to healthcare professionals. Her career spans roles in scientific communications at Bayer and Parexel, as well as independent consulting in publications. She earned her Ph.D. in Molecular and Cellular Biology from Harvard University.

Jamas LaFreniere

Founder and President, Sophie’s Hope Foundation

Pitch Session – Main Stage

Jamas LaFreniere is the President and Founder of Sophie’s Hope Foundation and CureGSD1b. The organizations were created to accelerate research, build community, and improve outcomes for people living with Glycogen Storage Disease Type 1b. A rare-disease advocate and Sophie’s dad, he brings patient-centered leadership, non-profit strategy, and cross-sector collaboration to advancing urgently needed therapies. The LaFreniere’s have personally raised and provided over $1.5M in the last 5 years.

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Jennifer Panagoulias, RAC

Head of Regulatory and Policy, Co-director of ABOM at FAST

Session 2: Therapeutic Timeline Deep Dive: Synergies and Handoffs that Matter Most

Jennifer has worked in drug development for over 20 yrs, primarily focused on advancing global development programs for the treatment of rare neurological diseases. She is the co-director of the Angelman Syndrome Outcome Measure and Biomarker Consortium (ABOM) and has recently taken on the role of Chief Operating Officer for AS²Bio, Inc., focused on accelerating drug development for individuals living with Angelman syndrome. She has a niece who lives with Angelman syndrome.

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Jill Weimer, Ph.D.

Senior Director, Therapeutic Development at Sanford Research

Session 2: Therapeutic Timeline Deep Dive: Synergies and Handoffs that Matter Most

Dr. Jill Weimer is a developmental neuroscientist and Senior Director of Therapeutic Development at Sanford Research. She bridges basic and clinical research to advance bench-to-bedside science and fosters partnerships with biotech and pharma. She earned her PhD from the University of Rochester and completed postdoctoral training at UNC before joining Sanford Research.

Joe Katakowski, Ph.D.

Director, Research at RTW Foundation

Session 1: Build it and They Will Come: Dataset that De-Risk Therapeutic Development and Attract Investment

Expert Office Hours

Pitch Track Judge: Neurodevelopmental Disorders & Epilepsy

Joe leads development strategy and R&D for RTW Foundation Rare Disease Advisory Program partners. He previously led gene therapy and AAV work at Regeneron and advanced multiple immuno-oncology programs to IND at Pfizer across diverse modalities. Earlier, he was a senior scientist at Innovimmune. Joe earned a PhD in immunology from Albert Einstein College of Medicine, with multiple first-author publications.

Kim Stephens, Ph.D.

Executive Director, Muenzer MPS Research & Treatment Center

Session 3: Successes & Lessons Learned form Recent Rare Disease Drug Approvals & Clinical Trials

Dr. Kim Stephens is the Executive Director of the Muenzer MPS Research and Treatment Center at UNC, Chapel Hill. The MPS Center was established in 2022 to build on the research and clinical work of mucopolysaccharidoses (MPS) pioneer Dr. Joseph Muenzer. Dr. Stephens focuses on education, research, fundraising, and advocacy for the MPS community. Having a son with MPS II (Hunter syndrome), this is also a personal mission for Dr. Stephens.

Kira Gillett, MS

Program Manager, Rare Diseases at the Foundation for the National Institutes of Health

Interactive Breakout: Can We Build a Repeatable Path to the Clinic? Lessons from the Accelerating Medicines
Partnership® Bespoke Gene Therapy Consortium

Kira Gillett, MS, is Program Manager for Rare Diseases at FNIH, supporting public-private partnerships advancing therapies for rare diseases. With 14+ years in life sciences and 8+ years in cell and gene therapy, Kira supports the AMP® Bespoke Gene Therapy Consortium, advancing scientific strategy, cross-sector collaboration, and efforts to streamline AAV gene therapy development and regulatory pathways. Her work is focused on translating innovation into therapies for patients.

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Krista Vasi, M.P.A.

Executive Director, Usher Syndrome Coalition

Pitch Track 2: Adult Neurologic & Vision-Related Disorders

Krista Vasi is Executive Director of the Usher Syndrome Coalition, a global nonprofit dedicated to Usher syndrome, the most common genetic cause of deafblindness. The Coalition bridges the gap between researchers, industry and a trial-ready community through the USH Trust, the world’s largest Usher syndrome contact database, and Global Genes’ RARE-X Data Collection Program. With the Coalition since its first year, Krista leads industry, advocacy and community partnerships worldwide.

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Leora Schiff, MS, MBA

Principal & Founder, Retired at Altius Strategy Consulting

Session 5: Market Access for Rare & Ultrarare Communities: We Can’t Wait Until the Approval Comes

Interactive Breakout: Creating an Evidence Development Plan to Make the Best Case for Reimbursement and Access

Expert Office Hours

Leora has over 20 years experience related to value & access and commercial strategy. She is focused on helping rare disease patient advocacy groups in planning for treatment-related evidence development. Her prior work includes serving as a Principal of Value & Access at IQVIA and Principal & Founder of Altius Strategy Consulting. She has an MBA from the Sloan School at MIT, an MS in biochemistry from Northeastern University, and an AB from Harvard University in psychology.

Lesley Ann Saketkoo, ND, MPH

Chair, Executive Director, Myositis International Health & Research Collaborative Alliance (MIHRA) Foundation

Pitch Track 3: Immune & Connective Tissue Function

Lesley Ann Saketkoo, MD, MPH, is a physician-scientist trained in pediatrics, internal medicine & rheumatology, specializing in rare multi-organ autoimmune diseases, interstitial lung disease & pulmonary hypertension – dedicated to trial science & patient experience. She is co-founder & chair of MIHRA Foundation & executive PI of MIHRA PATH, its FDA-CDER public-private partnership. Her father’s precarious journey with severe multi-organ lupus drew her from oncology into rare autoimmune disease.

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Lindsay Jesteadt, Ph.D.

CEO at Sleep Consortium, Inc.

Session 1: Build It and They Will Come: Datasets that De-risk Therapeutic Development and Attract Investment

Lindsay Jesteadt, Ph.D., is Co-Founder and CEO of Sleep Consortium, a nonprofit organization dedicated to accelerating sleep research through patient-centered data and collaboration. Following her son’s diagnosis with Type 1 Narcolepsy, she became a leading advocate for advancing sleep research, patient engagement, and innovation. She works globally with researchers, clinicians, industry, and patient communities to improve outcomes for individuals living with sleep disorders.

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Lindsay Marjoram, Ph.D.

Chief Scientific Officer at the Barth Syndrome Foundation

Session 2: Therapeutic Timeline Deep Dive: Synergies and Handoffs that Matter Most

Lindsay Marjoram, Ph.D. is the Chief Scientific Officer for the Barth Syndrome Foundation, which is dedicated to advocacy and advancing research for the development of treatments and cures for this ultra-rare disease. Dr. Marjoram has a background in developmental biology and a vested interest in rare disease research. Dr. Marjoram previously worked in biotech where she gained extensive experience in cutting edge gene therapies and rare diseases impacting vision loss.

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Marc Patterson, M.D.

Chief Medical Officer, IntraBio

Session 2: Therapeutic Timeline Deep Dive: Synergies and Handoffs that Matter Most

Marc Patterson was born in Australia and graduated in medicine there in 1981. He trained in child neurology at the University of Queensland and Mayo Clinic and in neurometabolic disease at NIH, under Roscoe Brady, MD. His research and practice have focused on rare inherited metabolic disorders, particularly NPC, LSDs and CDG. He became Emeritus Professor of Neurology, Pediatrics and Medical Genetics at Mayo Clinic in December 2024, and Chief Medical Officer at IntraBio, Inc in January 2025.

Maya Chopra, MBBS, FRACP

Clinical Geneticist at Boston Children’s Hospital and Assistant Professor at Harvard Medical School

Pitch Session – Main Stage Judge

Dr. Maya Chopra, MBBS, FRACP, is a Clinical Geneticist at Boston Children’s Hospital and Assistant Professor at Harvard Medical School. She is Division Chief of Neurogenetics and Neurodevelopment and Director of Translational Genomic Medicine at the Translational Neuroscience Center. Dr. Chopra’s research is focused on clinical trial readiness and therapeutic development for rare monogenic neurodevelopmental disorders.

Megan Abbott, M.D.

Pediatric Epileptologist at University of Colorado

Session 1: Build It and They Will Come: Datasets that De-risk Therapeutic Development and Attract Investment

Dr. Megan Abbott is a pediatric epileptologist at Children’s Hospital Colorado, embarking on a career in clinical research focused on outcome measures in developmental and epileptic encephalopathies (DEEs). She is working to establish multi-disciplinary clinics, generate gene-specific datasets, and devise outcome measures applicable to rare disease. She is excited to help advance the field further towards clinical trial readiness and disease modifying therapies for DEEs and other rare diseases

Mia Shapoval

Clinical Research Assistant, Boston Children’s Hospital

Expert Office Hours

Mia is a Clinical Research Assistant in the Yu Lab at Boston Children’s Hospital, where she helps assess the eligibility of patients with rare genetic diseases for antisense oligonucleotide therapy. She has a B.A. in Cellular Biology and Comparative Literature from Boston University and has research experience in cancer, genomics, and bioinformatics.

Michael Devlin

Board Director & Strategic Advisor, The Sumaira Foundation

Expert Office Hours

Judge for Pitch Track 2: Immune & Connective Tissue Function

Helping lead research, policy & international initiatives at TSF. Formerly: Senior Partner, McKinsey & Company (NYC, Tokyo, Paris, London); Senior Vice President – Global Strategy & Insights, Johnson & Johnson (global role). AB with highest honors in biochemistry & molecular biology, Harvard. MBA with focus on technology strategy from Stanford. Over 20 years working abroad in healthcare sector. Dual national (US/UK).

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Michael Hund, MBA

Founder & CEO, Rare Ventures/EBRP

Keynote: Venture Philanthropy Redefined: Building Scalable, Sustainable Models for Rare Diseases

Michael Hund, MBA is a global leader in venture philanthropy, impact investing, and medtech entrepreneurship for rare disease. His leadership has been featured by the WSJ, Forbes, CNBC, MIT, Yale, Harvard, Stanford, Cambridge, and the Milken Institute. He is the Founder and CEO of Rare Ventures, a first-of-its-kind platform accelerator and CEO at EB Research Partnership, a game-changing patient foundation that has increased clinical trials by 25x and helped accelerate 3 FDA approved treatments.

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Michael Sherman, M.D., M.B.A., M.S.

Chief Strategy Officer at GeneSprout

Session 5: Market Access for Rare and Ultrarare Communities: We Can’t Wait Until the Approval Comes

Dr. Michael Sherman serves as Chief Strategy Officer for GeneSprout. which offers affordable Whole Exome and Whole Genome Screening together with best-in-class navigation and support services to consumers, employers, and health plans. access to cutting edge precision medicine.

Before pursuing an M.B.A. at Harvard Business School, Dr. Sherman received his M.D. from Yale and holds B.A. and M.S. degrees from the University of Pennsylvania.

Michelle Davis

Executive Director, International FOP Association (IFOPA)

Session 6: Reimagining Industry–Advocacy Collaboration in Drug Development

The majority of Michelle’s career has been spent working in patient advocacy—the national headquarters of the National Kidney Foundation and Polycystic Kidney Disease Foundation and 10 years leading the IFOPA, an ultra-rare bone disease. At the IFOPA, Michelle leads the staff team and partners with the Board of Directors to execute the organization’s strategic plan. She provides strategic leadership for fundraising activities, global outreach and manages the IFOPA’s relationships with industry.

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Nasha Fitter, MBA

CBO, Citizen Health

Opening Fireside Chat: Parent-Led Drug Development: From Cell Lines to Dosing Patients, The FOXG1 Story

Nasha Fitter is dedicated to transforming rare disease drug development. After her daughter’s diagnosis, she co-founded the FOXG1 Research Foundation, pioneering faster, more cost-effective paths to clinical trials. She is also Co-Founder and Chief Business Officer of Citizen Health and serves on the board of the Buffalo Initiative. A Harvard Business School MBA, Nasha is committed to accelerating treatments and cures for rare diseases.

P.K. Tandon, PhD

SVP of Statistical and Development Strategy, Ultragenyx Pharmaceuticals

Judge – Pitch Session by Disease Area: Adult Neurologic & Vision-Related Disorders

P.K. Tandon, Ph.D. is the Senior Vice President of Statistical and Development Strategy, Ultragenyx Pharmaceuticals, Inc. based in Woburn, MA. As a senior member of the R&D executive team, he works with other senior managers to formulate and execute translational, early, and late clinical development strategies.
His area of expertise includes statistical, clinical and regulatory development strategy. He is an expert in clinical trial methodology and critical appraisal of outcomes data.

Raymond Belanger Deloge, MS, CGC

Research Genetic Counselor, Boston Children’s Hospital

Expert Office Hours

Mr. Belanger Deloge is a board certified and licensed genetic counselor. He completed his genetic counseling training at Baylor College of Medicine in Houston, TX. As a Research Genetic Counselor and Community Outreach Coordinator with the TNC, he specializes in translational research for rare, genetic, neurodevelopmental disorders and facilitating partnerships between the TNC and Patient Advocacy Groups.

Reenie McCarthy, J.D.

CEO at Stealth BioTherapeutics

Session 3: Successes and Lessons Learned from Recent Rare Disease Drug Approvals and Clinical Trials

Reenie McCarthy is CEO and a Board member of Stealth BioTherapeutics, a clinical-stage biopharmaceutical company developing investigational therapies for rare and age-related diseases linked to mitochondrial dysfunction. She previously led the U.S. investment team at Morningside Ventures and serves on the Board of Biotechnology Innovation Organization. Reenie earned a J.D. from the University of Pennsylvania Carey School of Law and a B.A. from Bates College.

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Robert Ng, Phd, MBA

Executive Director, Eli Lilly

Expert Office Hours

Over 15 years research experiences in AAV gene therapy related field in both academic and biotech settings.

Rodney Bowling, Ph.D.

CSO, AlphaRose Therapeutics

Expert Office Hours

Pitch Track 1 Judge: Neurodevelopmental Disorders & Epilepsy

I am a geneticist and biotech executive dedicated to accelerating personalized treatments for children with rare diseases. My educational foundation includes a Ph.D. in Medical Science from the Texas A&M University System Health Science Center and a B.S. in Genetics from Texas A&M University.

After foundational work as the Director of Molecular Genetics at XBiotech USA, my professional focus shifted entirely away from traditional, large-scale pharmaceutical pipelines.

Rohita Sharma, Ph.D.

Global Head – Strategic Alliances & Patient Advocacy, Alexion AstraZeneca Rare Disease

Interactive Breakout Session: From Community Insight to Scientific Impact: Publishing and Amplifying Rare Disease Evidence

Rohita Sharma is Head of Global Strategic Alliances & Advocacy at Alexion, AstraZeneca Rare Disease. She leads global partnerships across the rare disease ecosystem to advance patient-centered innovation, evidence generation, and equitable access to care. With 15+ years of experience spanning medical affairs, patient experience, and corporate functions, she brings deep expertise in rare disease strategy, stakeholder engagement, and patient-centered healthcare. She holds a PhD in Neuroscience.

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Sean Kassen, Ph.D.

Director of the Ara Parseghian Medical Research Fund, University of Notre Dame

Session 2: Therapeutic Timeline Deep Dive: Synergies and Handoffs that Matter Most

Sean Kassen, director, is responsible for administering all of the functions of the Parseghian Fund which includes advancing Niemann-Pick Type C (NPC) disease research, fundraising, managing the grants program, and raising awareness of NPC disease. He is well known for taking all of the credit for the accomplishments of the APMRF, though he knows it is his staff and team of volunteers that actually do the work!

Špela Miroševič, Ph.D.

Co-founder and CEO, CTNNB1 Foundation

Pitch Track 1: Neurodevelopmental Disorders & Epilepsy

Špela Miroševič, PhD, is the Founding President of the CTNNB1 Foundation, a non-profit developing gene therapy for CTNNB1 syndrome. After her son Urban was diagnosed in 2020, she left her career in cancer and public health research to pursue drug development. She has since led the Foundation’s AAV9 gene therapy program from preclinical work into the clinic, raising over $7 million and launching the first Phase I/II clinical trial.

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Steve Rodems, Ph.D.

Vice President, Research and Nonclinical Development at Travere Therapeutics

Session 3: Successes  & Lessons Learned from Recent Rare Disease Drug Approvals and Clinical Trials

Steve Rodems, PhD, is Vice President of Research and Nonclinical Development at Travere Therapeutics, with over 25 years of experience in rare disease drug discovery and development. He leads preclinical research, nonclinical development, and pipeline expansion. Steve believes patients are partners in drug development and that building trusted relationships with patient communities early leads to better medicines faster.

Sumaira Ahmed

Founder & Executive Director, The Sumaira Foundation

Pitch Track 3: Immune & Connective Tissue Function

Sumaira is Founder & Executive Director of The Sumaira Foundation (TSF), an international organization advancing awareness, education, research, advocacy and community support for rare neuroimmune disorders. Diagnosed with NMOSD in 2014, she founded TSF two months later. Today, she champions early, accurate diagnosis, effective therapies and meaningful patient engagement in research and drug development. Under her leadership, TSF secured a $9M PCORI award for a 5-year CER.

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Tai Pasquini, Ph.D., MPA

Chief Research Officer at Congenital Hyperinsulinism International

Session 6: Reimagining Industry–Advocacy Collaboration in Drug Development

Tai Pasquini is the Chief Research Officer at Congenital Hyperinsulinism International, where she leads the HI Global Registry, the Centers of Excellence program, and the Collaborative Research Network. A rare disease advocate and researcher, she holds a PhD in Public Health from UMass Amherst and a Master’s in Public Administration from American University. She previously worked at NORD and serves as chair of the research subcommittee of the Massachusetts Rare Disease Advisory Council.

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Timothy Yu, MD, PhD

Co-Founder of the N=1 Collaborative and the Center for Therapeutic Genetics

Fireside Chat: Scaling N of 1 – A Collective Effort

Dr. Yu is a physician-scientist at Boston Children’s Hospital and Harvard Medical School. In 2018 his group developed the first patient-customized antisense oligonucleotide, for a young girl with CLN7 Batten disease, work that underpins FDA’s 2021 and 2026 guidances for individualized medicines. He works closely with families, foundations, physicians, and regulators to fortify this regulatory pathway. He is co-founder of the N=1 Collaborative and the Center for Therapeutic Genetics

Walt Kowtoniuk, PhD

Venture Partner, Third Rock Ventures

Pitch Perfect Session – Main Stage (Judge)

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.

Physician in Chief at Boston Children’s Hospital

Pitch Track Judge: Neurodevelopmental Disorders & Epilepsy

Dr. Chung is a clinical and molecular geneticist. She directs NIH-funded research in human genetics of autism, pulmonary hypertension, breast cancer, obesity, diabetes, and birth defects—including congenital diaphragmatic hernia and congenital heart disease. Dr. Chung has identified the genetic basis of more than 60 rare diseases. She leads the GUARDIAN study to expand newborn screenings for genetic disorders and advance development of personalized therapies for children with these conditions.

Woan-Yu Lin, Ph.D.

Research Scientist, RTW Foundation

Expert Office Hours

Woan-Yu Lin, Ph.D., is a Research Scientist at RTW Foundation with a background in immunology, neuroscience, and translational rare disease research. She earned her Ph.D. from Weill Cornell Graduate School of Medical Sciences, where her research spanned multidisciplinary disease models and therapeutic biology. She advises patient organizations on scientific strategy, research opportunities, and pathways to advance rare disease treatments.

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

CEO & Founder, Mahzi Therapeutics

Day 3 Kickoff: De-Risking Your Disease to Attract and Sustain Investment

Pitch Session Judge – Main Stage

Yael Weiss founded Mahzi Therapeutics to develop therapies for ultra-rare genetic neurodevelopmental disorders. Mahzi partners directly with patient foundations — supporting their path toward drug development and bringing programs in-house once pre-clinical proof of concept is established.

Yael earned her MD from Hadassah Medical School at the Hebrew University in Jerusalem and her PhD from the Weizmann Institute of Science in Rehovot, Israel.

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