Poster Submissions
13-16 October 2025
RAI Congress Centre, Amsterdam
| Author | Organization or Academic Institution | Poster Title |
|---|---|---|
| Ruchi Sharma | Stemnovate Limited | GENERATION AND DIFFERENTIATION OF PATIENT-SPECIFIC INDUCED PLURIPOTENT STEM CELL (IPSC) LINES FOR POLG IN CHEMICALLY DEFINED CULTURE CONDITIONS. |
| S Christy Rohani-Montez | Medscape Education Global | Are Pediatric Neurologists Who Participate in Rare Disease Education More Likely to Order Genetic Tests for Rare Diseases? |
| Cecilia Estrella | AFAF, French Friedreich Ataxia Patients Association | Experiences and perceptions of French patients with Friedreich ataxia following treatment with omaveloxolone (Skyclarys) over a period of up to 73 weeks |
| Darja Pollpeter | Scenic Biotech | The lysosomal Bis(monoacylglycero)phosphate (BMP) hydrolase PLA2G15 and its development as a drug target in neurodegenerative disorders |
| Saskia de Wildt | Radboud University Medical Center | Preventing life-threatening symptoms of Noonan syndrome: Is it feasible to treat intra-uterine with trametinib? |
| Tara Smith | Med-Life Discoveries | Voice of the patient in RCDP: The value of the parents' perspective in the development of therapy for an ultra-rare pediatric condition |
| Darren Callanan | Partners4Access | Identifying the Mental Health Burden in Rare Diseases Through Social Listening Using RarePulse® |
| Darren Callanan | Partners4Access | Anticipating PICOs with Machine Learning and Data-Driven Insights |
| Cassi Friday | Cure HHT | CURE HHT RESEARCH NETWORK: BUILDING THE ROADMAP TO CURE HHT |
| Yannick Lampo | Sherwood Pharmaceuticals | First-Ever Treatment for Cri du Chat Syndrome Patients – The Sherwood Pharmaceuticals Approach |
| Sandra Cowie | International Niemann-Pick Disease Alliance | The NPC Suspicion Index: Re-establishing a Valuable Tool for Earlier Detection of Niemann–Pick Type C |
| María Belén Macas Granizo | University of Milan (Universita degli Studi di Milano) | Exploring the role of GLP-1 in Human Intestinal Smooth Muscle cells. Insights for Chronic Intestinal Pseudo-Obstruction (CIPO) disorder. |
| Alice Dos Reis Dias Heller | HealthEcon AG | From Data to Decision: Evidence Transfers within German Early Benefit Assessment for Pediatric Populations |
| Donato Bonifazi | TEDDY Network - European Network of Excellence for Paediatric Clinical Research | EPTRI-AISBL – strengthening the paediatric research ecosystem |
| Matthijs Leenders | GeneScape | The Genescape IRD Patient Atlas is the |
| Adrian Harrington | Biogen | The Burden of Friedreich Ataxia in Australia: Results of an Online Survey |
| Adrian Harrington | Biogen | The Burden of Friedreich Ataxia in Ireland: Results of an Online Survey |
| Adrian Harrington | Biogen | The Burden of Friedreich Ataxia in the United Kingdom: Results of an Online Survey |
| Emily Ord | argenx UK | Real-World Socioeconomic Burden and Health-Related Quality of Life (HRQoL) Among Caregivers of Individuals Living with Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) in the UK: Results from an Online Caregiver Survey |
| S Christy Rohani-Montez | Medscape Education Global | Continuing Medical Education on Rare Neurological Diseases Significantly Increases Diagnoses in Real World Practice |
| S Christy Rohani-Montez | Medscape Education Global | Accredited Rare Disease Education Significantly Improves Knowledge, Competence and Confidence Across Various Learning Needs |
| Marta Ruiz | Biogen | Descriptive clinical real-world data of patients with Friedreich ataxia (FA) treated with omaveloxolone in France: an early access program (EAP) |
| Smitha Kusumakar | Havas Life London | Rare Next - Examining the Gaps in Rare Disease and Solutions to Close Them |
| Shruti Pandey | OPEN Health | Indirect Evidence in Orphan and Advanced Oncology therapies: A European HTA Perspective |
| Dimple Dang | MarksMan Healthcare Communications | Research Trends in Rare Diseases in Real-World Settings in Europe: A Scoping Review (2013–2023) |
| Myriam Rai | Friedreich's Ataxia Research Alliance - FARA | The Friedreich Ataxia Global Clinical Consortium and the UNIFAI Study – advancing understanding of Friedreich ataxia and treatment options |
| William Jang | BioMe, Inc. | From Rare Disease to Global Impact: Advancing BM109 for TMAU and Cardiometabolic Disorders |
| Caitlin Atkinson | McGill University | Therapeutic potential of the novel CK1 agonist, SSCT3, in inherited peripheral neuropathies |
| Zhou Xiaohua | Phylim B.V. | Targeting a KCNA2 Loss-of-Function Variant with Allele-Selective ASOs: Toward Personalized Therapy for Kv1.2 Channelopathies |
| Sandra Cowie | International Niemann-Pick Disease Alliance | Exploring Global Access Challenges for Niemann-Pick Therapies: Insights from an INPDA Survey |
| Vanessa Buchanan | Cogentia Healthcare Consulting | Interlinked cost-effectiveness analysis and forecast modelling as a tool to guide strategic clinical and commercial development |
| Joslyn Crowe | Lexeo Therapeutics | Unmet Needs of Individuals With Friedreich Ataxia Cardiomyopathy: Insights From the Lexeo Friedreich Ataxia Cardiac Advisory Council |
| Flaminia Macchia | Orphanet-AISBL | From RD data to actionable knowledge: Orphanet-AISBL, a new player in the rare disease ecosystem |
| Lien Beckers | Leuven.IRD | Leuven.IRD: Interdisciplinary collaboration for groundbreaking research and value creation for patients |
| Emma Prentice | Tolley Ltd. | A framework approach to understand challenges in the health technology assessment of rare diseases |
| Maria Luisa Dalessandro | Fondazione per la Ricerca Farmacologica Gianni Benzi onlus | An easy-to-use flow chart to classify your clinical study |
| Arianna Psichas | Costello Medical | Diverse insights: exploring multistakeholder engagement during Delphi panels |
| Monique van Scherpenzeel | GlycoMScan B.V. | Mass spectrometry Service Provider for Life Sciences, Biotech & (Bio)Pharma |
| Miriam Wagner Long | FSHD Society | Project Mercury: A Global Platform for Accelerating Therapeutic Development and Access in FSHD |
| Isobel Pearson | Adelphi Values PROVE (An Omnicom Agency) | 1.1 Evidence generation in orphan diseases: health technology assessment (HTA) and reimbursement approaches |
| Alfonso Eduardo Garbayo | EVERSANA | The IDeaS Initiative: Pilot Study to Assess the Impact of Rare Diseases on Patients and Healthcare Systems |
| Luísa Bouwman | Faculty of Pharmacy of the University of Lisbon | How Real-World Evidence Shapes Orphan Medicine Approvals in the EU between 2010-2024 |
| Katja Vrabec | Sartorius BIA Separations | End-To-End Process for Improved Purity, Combined With Innovative Analytics of LNP-Based Therapeutics |
| Jon de Vlieger | Foundation Lygature | Stimulating Medical Innovation Through Expert Meetings in Public-Private Partnerships |
| Xavier M GUERIN | BPGBio | Intravenous Delivery of BPM31510 (Ubidecarenone) in Pediatric and Adolescent Patients with Primary CoQ10 Deficiency: Updated Outcomes from Compassionate Use |
| Dr. Sumira Riaz | Unboxed Psychology | Understanding the Mental Health Needs of Individuals Living with Rare Diseases: A Survey-Based Approach |
| Dimple Dang | Marksman Healthcare Communications Private Limited | Challenges in Applying Real-World Evidence for Health Technology Assessment in Rare Diseases |
| Elise Wilby | Metabolic Support UK | Lived Experience: Insights into Thymidine Kinase 2 deficiency |
| Leonid Stoianov | Trialize AG | Automating early‑phase rare‑disease trials with AI: faster start‑up and continuous data quality |
| Sylwia Szwec | Cure HSPB8/ Cure MFM13 | Cure MFM13: Connecting Patients, Research, and Industry |
| Cira Dansokho | evotec | Enabling Minimally Invasive Biomarker Assessments |
| Hannah Roberts | Make-A-Wish International | Wish-Granting Interventions to Promote Positive Emotions in Children with Critical Illnesses and Their Families |
| Margot Neefjes | Radboudumc | Therapy Accelerator at Radboudumc: Accelerating Therapy development for Rare Diseases |
| Rosa Willock | Decisive Consulting Ltd | Consensus on clinically meaningful change on the modified Friedreich Ataxia Rating Scale |
| Anila Dede | IQVIA RWS | Disrupting the Rarity Paradigm - External Comparators as A New Standard for Orphan Drug Evidence: A patient-centered framework for evidence generation in rare diseases |
| Jonathan Evans | Prime HCD | Empowering Patient Advocacy Through Health Economics: Insights from the first two years of the EHC - Health Economics in Europe Course |
| Sylwia Szwec | Cure HSPB8 | Cure HSPB8: Connecting Patients, Research, and Industry in an Ultrarare Neuromuscular Disease |
| Carina Schey | Shout | Power in Partnerships |
| Boris Sevarika | University of Basel | Lipid Nanoparticles Mitigate Immune Responses and Enhance Lysosomal Delivery of Recombinant Enzymes |
| Archit Kalra | Kalevala Therapeutics | No One Left Behind: Kalevala Receives FDA Orphan Drug Designation for Ambroxol for Gaucher Disease |
Created by
Terrapinn is proud to be a member of isla.
Working together to build sustainable events