2025 Speakers

A former government pharmacist payer with over 15 years experience in access and reimbursement for new medicines and advising NHS government guidelines at NICE HTA Omar has been a visiting Lecturer at UCLH Pharmacy Programme and was both Lecturer & Examiner on Independent Prescribing the...

Kim Angel is the Executive Director of the International MPS Network (IMPSN) and a committed advocate for individuals and families affected by mucopolysaccharidoses (MPS) and related rare diseases. With a background in organizational leadership and a deep passion for driving meaningful change, Kim...

Derek Ansel, MS, LCGC Derek Ansel is Vice President, Therapeutic Strategy Lead, Rare Disease. Derek has worked in clinical research for more than 13 years with a focus almost exclusively on rare and pediatric diseases, including neurodevelopment disorders, non-malignant hematology, autoimmune...

Anjan founded Raya Therapeutic in 2019. Raya is focused on developing 5 clinical stage NCEs to treat ALS and potentially other neurodegenerative diseases. Prior to Raya, Anjan worked at a variety of biotechs and pharma companies and is a venture partner at CTI Life Sciences Fund 2 (Canada). He has...

Dr Anke Arnold-Tugulu brought with her more than 15 years’ experience in the pharmaceutical industry when she joined Azafaros as Head of Regulatory Affairs in early 2022. An expert in the field, Dr Arnold-Tugulu has worked in various disease areas and at all stages of drug development, playing a...

Dimitrios Athanasiou holds a BA in Business Administration and an MBA in Financial Management. He speaks three European languages and has more than 25 years of experience with international business projects, working in various countries in consulting, developing, and reorganizing companies.When...

Miranda Bailey is the Associate Vice President of HEOR & Pricing at Rocket Pharmaceuticals, with over 15 years of experience driving value, access, and health outcomes in rare diseases and gene therapies. She has created and implemented successful global and local market access, HEOR and RWE...

Andy Barrick- CEO Multiple System Atrophy (MSA) Trust UK Andy Barrick has worked in the UK voluntary sector for over 30 years, the last ten with the MSA Trust. Since 2015 the MSA Trust has doubled the number of people they support and have prioritised engagement with our members. Andy has overseen ...

Stefano Benvenuti is Head of Public Affairs and Market Access at Fondazione Telethon (Italy) since 2021. He is vice-chair of the funders constituent committee of the International Rare Diseases Research Consortium (IRDiRC) and he is member of the Italian National Committee on Rare Disease. Within...

Dr. Juliane Bernholz is an experienced CEO, cell biologist, and molecular geneticist with over 30 years of leadership experience in the pharmaceutical industry having worked and lived in the US and multiple countries in Europe. Currently, she serves as the CEO of AM-Pharma, a private clinical stage ...

Corinne Blanchet, MS, serves as Executive Director of Program Delivery for Rare Disease & Pediatrics at Premier Research, bringing over 26 years of comprehensive experience in clinical research leadership. With a strong foundation in project management, Ms. Blanchet oversees the successful...

Lara Bloom is President and CEO of The Ehlers-Danlos Society, where she leads global efforts to raise awareness of rare, chronic, and invisible conditions—specializing in Ehlers-Danlos syndromes (EDS), hypermobility spectrum disorders (HSD), and related conditions. She spearheads international...

I am the Global Programme Manager at Rare Diseases International, where I oversee the Global Network for Rare Diseases and contribute to projects aimed at improving diagnosis, care, and quality of life for people living with a rare disease and their families. I am a nurse by background, with...

Pascal Brokmeier is Head of Engineering at Every Cure, where he co-leads the development of the organization's MATRIX platform, an AI-powered system that analyzes over 75 million drug-disease combinations to identify promising repurposing opportunities for rare and untreatable diseases. Prior...

Postdoctoral Researcher at the Health Technology Assessment Area (AETSA) of the Regional Ministry of Health and Families of Andalusia, Seville, Spain. Degree in Biochemistry and a PhD in Pharmacology. Specialization in Evaluation of Medicines and Health Technologies in the Healthcare...

Nathan Chadwick is Senior Director, Therapeutic Strategy Lead, Rare Disease.  With more than a decade of dedicated experience in clinical research, Nathan Chadwick is well-versed in several therapeutic areas, with a specialized focus in neurology and rare disease. At Worldwide, Nathan is at the...

William Cole is a dedicated Life Science Partnership Manager at Kidney Research UK, with a passion for advancing the field of orphan drugs. With a background in life sciences and extensive experience in strategic partnerships, William is committed to driving innovation and collaboration for rare...

Elizabeth de Lange, PhD, is Professor of Predictive Pharmacology at the Division of Systems Pharmacology and Pharmacy of the LACDR (Leiden University). Her group develops predictive (CNS) pharmacokinetic (PK)- pharmacodynamic (PD) relationships in human, in health and disease, mainly using “smart” ...

Julien Delaye joined EURORDIS in September 2019 as an intern and moved to the position of Public Affairs Assistant on the Rare 2030 project. He then became Public Health Policy Junior Manager and now holds the position of Patient Engagement Manager in HTA. Working closely with the Director of...

Toon Digneffe is Head of Public Affairs and Partnerships Europe & Canada at Takeda. He has over 20 years’ experience in government affairs, communications, market access and patient advocacy at local, regional and global level.   Mr Digneffe has extensive experience in pharmaceutical...

Danielle is the Global Medical Scientific Advocacy Lead, Rare Disease at Sanofi. She advocates for the understanding and use of rare disease evidence with a range of health care decision makers. She works with multistakeholder consortium across the rare disease ecosystem and leads several patient...

Samuele Doratori, began his career in pharma after a Pharma D, post-doc in Immuno-Oncology, taking on roles of increasing responsibility across Medical Affairs, Marketing, Sales, and now Global Product Strategy at Menarini and Servier. With experience spanning cardiometabolic, oncology, respiratory ...

Mr. Elam has been founding, managing and advising healthcare and technology companies for more than 30 years.  Prior to founding Rezolute, Mr. Elam held various senior leadership positions in the industry including Senior Vice President at Nektar Therapeutics (NASDAQ: NKTR) where he ran the...

Karen Facey PhD CStat worked in senior statistical roles in the pharmaceutical industry and medicines regulation, before becoming CEO of the first national health technology asssessment (HTA) agency in Scotland in 2000. For the past 20 years Karen has had a portfolio career working internationally...

Rita Francisco has a background in research, holding a BSc in Genetics and Biotechnology, an MSc in Molecular Genetics and a PhD in Biology. During her PhD, she strived to develop and implement a people-centric framework to drive biological and clinical research on a family of rare diseases known...

PharmD, PhD in cellular biochemistry and pharmacology, post-graduate degree master in Clinical Research of Medicines. My main areas of expertise are: ethics and regulatory, informed consent and assent, health data processing for research purposes, European medicine regulatory procedures, R&D...

Diego is the Executive Director of the Federación Colombiana de Enfermedades Raras (FECOER), an umbrella organisation bringing together 52 patient groups to represent the voice of the rare disease community in Colombia. Diagnosed with pulmonary hypertension over 30 years ago, Diego used his...

Wim Goettsch, PhD, is Special Advisor in Health Technology Assessment (HTA) at the Dutch National Health Care Institute (ZIN). In his position at ZIN, he is a Member of the EU HTAR Coordination Group and its subgroup on Joint Scientific Consultation (JSC). Between 2010 and 2013, he was the Deputy...

From 2010 to 2018, served as leader of the Polish Association for Patients with Primary Immunodeficiencies 'Immunoprotect’ and was a member of the executive board of the international umbrella association, the International Patient Organization for Primary Immunodeficiencies (IPOPI). For his...

Alicia Granados is a highly accomplished leader in the field of rare diseases, currently serving as the Head of Global Rare Diseases Medical Scientific Advocacy at Sanofi, where previously she headed its global HTA strategy .With almost 15 years of experience in the pharmaceutical industry, Alicia...

Researcher at the Health Technology Assessment Area (AETSA) of the Regional Ministry of Health and Families of Andalusia, Seville, Spain. Degree in Physiotherapy and master´s degree in Motor Neurocontrol. Currently working a PhD in Clinical Procedures, Interventions and Health Outcomes at the...

Chris has 25+ years of life science experience with executive roles in the pharmaceutical, Biotech, Medtech and Health-tech industries. Chris has led organisations and functions at global, regional and country level and has a wealth of therapeutic experience including working extensively in rare...

Hannah is a Project Manager at Beacon, a UK-based rare disease charity that is building a united rare disease community with patient groups at its heart. She works alongside the Projects Team to manage and deliver patient group training, guided programmes, and community projects. Through this...

Carla Hollak, internist for inherited metabolic disorders at Amsterdam UMC, is UvA professor of 'Medicine and Society'. Carla has been the founder of the department of metabolism in adults for the past 20 years and was at the basis of the expertise center for inherited metabolic disorders...

Sebastian Honoré is the Founder and CEO of Cure Lowe Foundation, a non-profit organization focused on accelerating research and treatment development for rare diseases, with a particular emphasis on Lowe Syndrome. Sebastian founded the organization after his son Walther was diagnosed with Lowe...

Patrick Hopkinson is a Global Market Access/ HEOR expert with over 25 years experience. He is an independent consultant, founder and managing director of PHTA Consulting.  He is a senior leader in the life sciences industry with extensive expertise gained from working across multiple functions in...

Julian is the co-founder and leader of PharmaKrysto, a company focused on developing new treatments for people living with rare kidney disease. He has many years of clinical development, translational science and early stage company formation and funding.

Anne Hugon With over 30 years of commitment to rare diseases, she brings a dual perspective as both a patient advocate and a healthcare system professional. She is currently Project Manager for ERN ITHACA at AP-HP (Paris Public Hospital), coordinating European initiatives focused on rare genetic...

Dr. Raymond A. Huml is the Vice President of Rare Disease Strategy at Sciensus, with over 30 years in the healthcare and biopharmaceutical industries. A leader in rare disease research and global due diligence, he has driven nearly $3 billion in capital commitments. A prolific author and...

Julian Isla is a software engineer by training and works as a Resource Manager for the Artificial Intelligence group at Microsoft. He has 29 years of experience working for international IT companies, helping customers with digital transformation and leveraging the capacity of artificial...

William Jang is a biotechnology executive specializing in the development and global commercialization of microbiome-based therapeutics. He currently serves as Head of Global Business Development at BioMe, Inc., where he drives strategic partnerships, investment initiatives, and regulatory...

Manohar Katakam, Ph.D. is a biotech and pharmaceutical leader with over two decades of experience building companies, advancing novel therapies, and delivering measurable shareholder value. His entrepreneurial leadership includes founding and scaling multiple life sciences ventures. As President...

Anna Kole is a public health professional with over 20 years of international experience in health education, communication, fundraising, advocacy and policy making for people living with rare disease and other vulnerable populations. Since 2022 she has led Global Patient Engagement for Myasthenia ...

Jen Lee is a Principal Consultant at HEOR Ltd with over 13 years’ experience managing global and European HEOR and market access programs for rare disease technologies. She has led UK NICE submissions, overseen complex multi-country reimbursement strategies, and brings expertise in evidence...

Dan's eldest daughter Amelie was diagnosed with Tay-Sachs in 2011 at 15 months of age and upon finding that there was no dedicated advocacy group providing support for families affected by this disease in the UK he set set-up the Cure & Action for Tay-Sachs (CATS) Foundation with his wife...

Kieron joined the Clinigen Group in 2014 and is responsible for delivering consulting services to Biotech and Pharmaceutical companies. Kieron has a vast amount of experience in planning and setting up Pre-Approval/Managed/Expanded Access, International Pharmacy and Named Patient Supply...

Caroline Ling has over 20 years of experience with market access and health economic consultancies and is able to deliver a broad spectrum of strategic and tactical market access projects for both global and local clients, including systematic and pragmatic literature reviews, global value...

Gisela Linthorst joined Azafaros at the start of 2022 and brought with her more than 20 years’ experience in the pharmaceutical industry, with a focus on rare diseases. In 2006, as Manager of Patient Care at Genzyme in the Netherlands, she was responsible for setting up the first homecare projects...

Name: Liu Mi Title and position: Distinguished Professor, Institute: Department of Pharmaceutics, College of Pharmaceutical Sciences, Soochow University CSO,  Beijing Darwin Biotech Co., LTD   Email: mi.liu@suda.edu.cn   Research Areas: (1) New drugs based on proteins derived from stem...

Dr. Maltecca's main research interest is in inherited cerebellar ataxias of primary or secondary mitochondrial origin. She has a background in human genetics with specialized training and expertise in inherited cerebellar ataxias, as well as a solid background in cerebellar physiology and...

Aurora Mateos is Founder and General Director of Menkes International (MIa), a charity focused on fighting the rare disease called Menkes. She is an international lawyer (she has been Consultant to United Nations for more than fiftheen years) on environmental law, specially law of the sea, as well...

Michelle L. Mellion, MD earned her undergraduate degree with honors in molecular biology from Colgate University and her medical degree from Wake Forest University School of Medicine. She completed her internship in internal medicine, residency in neurology, and fellowship in clinical...

Dr Michael Merchant is a Scientific Adviser in the Data and Analytics team at NICE. He joined NICE in 2023, to work on Real World Evidence for Clinical Prediction Models and AI predictive technologies for diagnosis and prognosis. This work is in review and will form part of the NICE Real World...

Warnyta Minnaard (1989) is one of the founders of ‘Missie Tumor Onbekend’, the Dutch advocacy and patient organisation for patients and families that deal with cancer of unknown primary (CUP). CUP is the 4th most common metastatic cancer in the Netherlands. After her partner Hederik passed away...

CV: JAN A. MOL, PhD (www.uu.nl/staff/jamol) UNIVERSITY OF UTRECHT, LYMPHOMA COALITION Jan Mol is a retired cell biologist of Utrecht University and patient advocate for people with various forms of blood cancer. Jan Mol graduated from Wageningen University (Molecular Sciences) and did his PhD...

My name is Cristóbal Muñoz Sánchez, and I hold an MBA in International Management and a Master's degree in International Communication. I am currently working as Project Coordinator at RDIG HTAi and Assistant Project Manager at AETSA-FPS, with a specialization in managing R&D projects in...

Alexander Natz is the Secretary General of the European Confederation of Pharmaceutical Entrepreneurs (EUCOPE) in Brussels and advises innovative pharmaceutical and biotech companies, including start-ups, in regulatory and pricing & reimbursement matters from the EU law and German law...

Dan O'Connor is medically (Leicester) and PhD (Imperial) qualified and currently the Director Regulatory and Early Access Policy at The Association of the British Pharmaceutical Industry (ABPI). He joined the ABPI from the Medicines and Healthcare products Regulatory Agency in 2023 where he was ...

Paula had a 26-year career with The Muscular Dystrophy Association (MDA) as Director, Family Support and Clinical Care, supporting patients living with rare neuromuscular disease.   Her clinical experience through  MDA's national multi-disciplinary care center network included  helping patients ...

Distinguished Investigator and Chair of the Scientific Advisory Committee of the Únicas SJD Center at the Sant Joan de Déu Children's Hospital in Barcelona, ​​where he served as Head of the Genetic Medicine Service and Director of the Pediatric Institute for Rare Diseases. He is a researcher in ...

Clive Phillips is the founder of Making the Most of Now, an advocacy initiative inspired both by his rare condition, Multifocal Motor Neuropathy (MMN), and by his belief that resilience and joy can be found even in the face of uncertainty. With a professional background in management and...

Enrico Piccinini has been Senior Vice President, EU & International, Rare Diseases, Chiesi Group, since November 2019, where he leads a team that works to make treatments available for rare and ultra-rare diseases. He is a member of various biotech, R&D and orphan drug groups and...

Giulia Pierini is a rare disease specialist with deep expertise in patient engagement and advocacy. With over five years dedicated to the rare disease field and more than 50 successful patient-focused projects across multiple rare and complex conditions, she has collaborated with global...

Anke Pisters-van Roy, MD, CZ is a dedicated and passionate healthcare professional with a strong background in orphan drug development and advocacy. With a medical degree and expertise in the field, Anke has made significant contributions to the orphan drug industry through her work at CZ, a...

Tom Pulles, MD, is a dedicated and accomplished professional with extensive experience in the pharmaceutical industry. Currently serving as the Vice President and Head of Medical Affairs & Patient Advocacy for Europe at Acadia Pharmaceuticals Inc., Dr. Pulles plays a pivotal role in shaping the ...

Carelle Reparon-Schuijt is a dedicated and experienced medical advisor for hospital medicines at health insurance company Zilveren Kruis. With a strong background in healthcare and a passion for improving patient outcomes, Carelle brings a unique perspective to the orphan drug industry. Her...

Dr Sumira Riaz (DPsych), Chartered Health Psychologist and Patient Engagement Consultant, Unboxed PsychologyDr Sumira Riaz is a Registered Health Psychologist, Cognitive Behavioural Therapist and Founder of Unboxed Psychology, a behaviour change, patient engagement consultancy. Sumira has 18 years...

Currently the CEO and CSO of Med-Life Discoveries with over 20 years of experience in the biotech sector. My primary objective at the meeting is to seek investment opportunities and/or potential co-development or licensing partners for our rare disease program. 

Kit Roes is Professor of Biostatistics at Radboud University Medical Center Nijmegen (Netherlands). He is chair of the Methodology Working Party of the European Medicines Agency, and senior expert at the Dutch Medicines Evaluation Board. His research focus is design and analysis of clinical trials...

Kent Rogers has been a senior executive across the healthcare industry for over 30 years, focusing on product commercialization, supply chain logistics, pricing strategies, reimbursement, market access, and alliance management. He spent more than two decades in the pharmaceutical industry in...

Christopher Rudolf is a seasoned technology entrepreneur and business advisor with over 30 years of experience, specialising in data science, AI, and medical informatics. As the founder and CEO of Volv Global SA, he leads the company's mission to transform healthcare through advanced machine...

After leaving the Mayo Clinic, from 1988 to 2007, he held academic, clinical and administrative leadership positions as Chief of Cardiac Surgery, Pediatric Cardiac Surgery and Heart Transplantation  at several Academic Hospitals in the USA, including Temple University, St Christopher’s...

Dr Joerg Schuettrumpf is the Chief Scientific Innovation Officer of Grifols, where he drives the company’s strategic focus a provider of innovative plasma medicines and other biopharmaceuticals. Dr Schuettrumpf is a physician-scientist specialised in Transfusion Medicine and Hemostaseology with...

Ruchi Sharma is the CEO of Stemnovate Limited, a biotechnology company focusing on stem cell research and drug discovery. With a PhD from the University of Edinburgh and research experience at the University of Cambridge, she founded Stemnovate to develop solutions for rare diseases and...

Currently serving as the Vice President of Market Access EU & International and Global HEOR in the Global Rare Disease Unit of Chiesi Group, Diana Sinkevich oversees market access and value strategies, health technology assessment, and evidence generation across Europe and international markets ...

Rachel Smith is an ultra-rare disease subject matter expert with over 10 years of experience in clinical research, sponsor, and CRO roles across APAC, Europe, and North America. She oversees 30+ multimillion-dollar orphan disease programs funded by both sponsors and academic institutions. Rachel...

Tara Smith is the Executive Vice President, Innovative Therapies at Med-Life Discoveries LP, a North American company developing a first-in-class plasmalogen metabolic replacement treatment. Their current focus is the ultra-rare disease Rhizomelic chondrodysplasia punctata (RCDP). Tara has over 15...

CEO of Trialize. Chairman of HL7 UA. 

Dr. Violeta Stoyanova-Beninska is a medical doctor with a PhD in molecular genetics and a Master of public health degree. As a regulator and scientist Violeta has dedicated her career to clinical work, research in genetics and regulation of medicines and in particular to therapies for rare and...

Kwee Lan Tan is the Head of the Regional Regulatory Lead Emerging Markets team at Boehringer Ingelheim International GmbH. In this role, she leads a team of Regional Regulatory Leads to accelerate and ensure access to life-changing medicines for patients. Before her international role in...

Jose Terencio is Senior Vice President of Discovery at Grifols, leading the internal research teams as well as the external Innovation arm of Grifols named GIANT (Grifols Innovation And New Technologies) and also CEO of Araclon Biotech. With more than 25yrs+ of experience in the Pharma and Biotech...

Nitza Thomasson: recognized neuroscience expert (PhD in Neuroscience, Sorbonne University, Paris and Post doc , Northwestern University, Chigago) with leadership experience across pharma and biotech (Sanofi, Fovea, Tissium). An entrepreneur at heart, she co-founded pioneering companies in the field ...

Costello Medical is an independent consultancy that provides scientific support in the analysis, interpretation and communication of clinical and health economic data. As a Principal Consultant in the Rare Diseases Team, Eleanor works with a patient-focused, multidisciplinary team that leverages...

Janneke van der Kamp is Chief Executive Officer of Norgine, a mid-sized EU-based pharmaceutical company with 1,500 employees and approximately $600 million in annual sales. Innovation drives Norgine’s mission to deliver medicines that change lives. The company targets unmet medical needs across a...

Prof. Bart van de Warrenburg is a neurologist, focusing on rare movement disorders, which are often genetic. He is founder and lead of the Radboudumc expert center for rare and genetic movement disorders, which is also part of the European Reference Network for Rare Neurological...

Silvia van der Flier is a dedicated and experienced Medical Advisor at VGZ, a leading healthcare insurance provider. With a background in medicine and a passion for improving patient outcomes, Silvia plays a crucial role in shaping healthcare policies and strategies within the orphan drug...

Benjamen Varsano is a seasoned professional in the pharmaceutical industry with a strong focus on operational strategy. Currently serving as the Director of Operational Strategy at Ergomed, Benjamen brings a wealth of experience and expertise to the field of orphan drugs. With a proven track record ...

Dr Vikkula, MD PhD (1992-93 Helsinki Finland), a professor of genetics, became interested in vascular anomalies at Harvard Medical School 1993-97, and unravelled key concepts in their pathophysiology: genes, second-hits and decisively somatic mutations (2009). He is at the forefront of developing...

Miriam Wagner Long has been a dedicated fundraising professional for nonprofit organizations since 2005. She has worked extensively in the U.S., focusing on sustainable funding strategies especially for healthcare related organizations. Since returning to Germany in 2011, Miriam has continued to...

Michael Wilbur is an independent consultant in patient advocacy and corporate affairs. Former roles include: •Chief Operating Officer at EURORDIS-Rare Diseases Europe (6 years) •Head of Planning and Delivery –NHS England / NHS Improvement  (10 years) •Associate Director of Research and Online...

Sorrel Wolowacz has more than 2 decades of experience in health economics consulting and 3 decades of experience in the health care industry, including health outcomes, clinical research, and product development. Her research experience is in the areas of economic modelling, real-world...

  Martine Zimmermann joined Ipsen in January 2023 as Senior Vice President and Head of Regulatory & Quality Affairs, based in Boulogne (France) and since January 2024, SVP, Head of Global Regulatory Affairs. Previously she was Senior Vice President and Head of Regulatory & Quality...