The deadline for Scientific Poster Submissions is the 4th of October. Thank you to everyone who has submitted so far.
All posters will be displayed in the congress exhibition hall and will stay up throughout the congress Wednesday 23 - Friday 25 October. If you are listed below please arrive on the morning of Wednesday 23 October to display them up on the boards within the Poster Zone.
We are also promoting all attendees to visit the Poster Zone at: 13:30 on Wednesday 23 Oct, 12:40 on Thursday 24 Oct and 12:10 on Friday 25 Oct. Poster presenters should be stationed next to their posters at these times.
Author
Organization or Academic Institution
Poster Title
Josie Godfrey
Realise Advocacy
The true cost of patient involvement in Health Technology Assessment
Josie Godfrey
Duchenne UK
The challenge of capturing the true cost of rare diseases: learnings from Project HERCULES
Matthijs Leenders
Genescape
Prevalence estimates and genetic diversity for autosomal dominant retinitis pigmentosa due to RHO, c.68C>A (p.P23H) variant
Elizabeth Estes & Carmela Wegworth
Open Source Imaging Consortium (OSIC)
Open Source Imaging Consortium – A Robust Collaboration Engine For Driving Radical Progress in Rare Lung Diseases
Saudha Parthasarathy & Jessica A Martin, Annette F Skorupa
Innovation Communications Group
Expanding Public and Patient Access to Scientific Research Findings – Early Learnings from Plain Language Summaries of Publications in Rare Diseases and Orphan Drugs
Pedro Soriano
Asociación FFPaciente
A qualitative study to assess the interaction of patients with rare diseases on social media
Dr. Andrea Mareike Cordes
Intermedix Deutschland GmbH
From data to decision: Data as added value in the context of patient care
Neus Martinez Abadias
Universitat de Barcelona
Pilot study on the sensitivity of Face2Gene in Turner syndrome in Spanish and Brazilian populations
Neus Martinez Abadias
Universitat de Barcelona
Facial biomarkers for 5p- deletion syndrome
Neus Martinez Abadias
Universitat de Barcelona
BeNeXT: Biomarker enhanced diagnostic and prognostic tools for rare disorders. Using X-chromosome alterations in Turner syndrome as a model
Neus Martinez Abadias
Universitat de Barcelona
Facial phenotyping as a quantitative method for diagnosing genetic and rare disorders
Joe Caputo
Vista Health
Identifying rare disease registries to support data-driven initiatives that optimise patient care – a Fragile X Syndrome case study in China and Japan
Georgene Glass
Dreamsickle Kids Foundation, INC
Breaking Barriers: Global Advancements in Sickle Cell Disease Therapies and the Role of Advocacy in Promoting Health Equity
Yury Makhankov
Makhankov Consulting
Advancing Rare Disease Care: Case Studies on The Role of Orphan Drug and Precision Medicine
Christian Brander
GRIN Europe
Neurodevelopmental Disorders in Children with Rare GRIN Gene Mutations: The Role of the GRIN Europe Parents Association in Providing Family Support and Driving Clinical Research
Joshua Card-Gowers
HealthLumen
Quantifying the Prevalence of Fabry Disease in the United States using a Genetic Database
Daniel de Vicente Corbeira
FEDER
Design of PROMs and PREMs questionnaire for ASMD care
Calum Grant
Mendelian
Novel Partnership to address the diagnostic odyssey in Paroxysmal Nocturnal Hemoglobinuria (PNH)
Calum Grant
Mendelian
Optimising PNH Diagnosis in the UK: A Simulation Study on the Impact of MendelScan on Clinical Utilisation and associated Healthcare Costs
Georgia Roberts
Initiate Consultancy
The importance of rare disease-specific procedures in HTA processes in ensuring equitable access to orphan products as a result of EU JCA
Esther Esteban
University of Barcelona
Juntas Menos Raras (Less Rare Together), A Citizen Science Project to Raise Awareness of Rare Diseases and Improve Their Diagnosis
Amy Rudd
Remap Consulting
Are NICE Achieving Their Timelines for Reviewing HSTs in England?
Amy Rudd
Remap Consulting
Comparing And Contrasting Early Access Opportunities Across Four Nordic Countries
Mila Zaballos
IFAP Syndrome Patient Advocate
Navigating through the intricates and Challenges of an ultra-rare disease journey: from symptoms to diagnosis, understanding the unknown and driving progress toward a cure
Susana Carvajal Arjona
Federg Federation of European group of patients affected by a genetic and rare kidney diseases.
Title TBC
Laura I. Furlong
MedBioinformatics
Overcoming Data Silos: The Solution to Actionable Genomic Insights
Maria Buxadé
Fundació HiTT
Societal value of orphan drugs
Radek Wasiak
Raire/Adigens Health
Navigating the Rare Disease Data Puzzle: The Need for AI-Enabled Novel Approaches and Rethinking the Evidence Hierarchy
Freya Boardman-Pretty
Mendelian
Leveraging AI on Primary Care Electronic Health Records to Identify Candidates for Genetic Testing in Inherited Retinal Diseases: A Multi-Stage Analysis
Andrew Mumford
Initiate Consultancy
Association between caregiver quality of life and the care provided to adults with severe visual impairments in rare disease: A systematic review
Rafael Cypriano Dutra
Dompé Farmaceutici S.p.A. Naples, Italy
Effect of rhNGF administration on pathological cholesterol accumulation in fibroblasts derived from Niemann-Pick type C patients
Dr. José Luis Corchero Nieto
Networking Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), and Dept. Genètica i Microbiologia, UAB, Bellaterra, 08193 Barcelona, Spain.
GLA mutants as innovative therapeutic tools for Fabry disease
Rajat Mukherjee
MuSigmas Consultants
Flexible Bayesian Clinical Trial designs for Rare Diseases
Kirsten Herrmann
Pharming Group
Value contribution of leniolisib compared to the standard of care in the treatment of activated pi3k-δ syndrome in spain using multi-criteria decision analysis
Erica Di Pasquale
Fondazione Telethon
Accelerate European ATMP development and ensure wide-spread access: a focus on rare genetic diseases
Ruta Navardauskaite
Hospital of Lithuanian University of Health Sciences Kauno Klinikos
Trends in Budget Allocation for the Treatment of Ultra-Rare Health Conditions in Lithuania: A 2018-2023 Financial Analysis
Erin Kuhn
Biopharma Group
Lyophilised Oligonucleotide Drug Product Cycle Optimisation and Risk Assessment Using Quality by Design (QbD)
Michael Glezin
Sol-Gel
Patidegib 2% topical gel Phase 3 Randomized, Double-Blind Clinical Trial for the Prevention of Facial BCCs in Basal Cell Nevus Syndrome (Gorlin) Patients
Dr Calum Grant
Mendelian
Unlocking AI in Rare Disease Diagnosis: Modelling the Impact of MendelScan on DiGeorge Syndrome in UK NHS Healthcare
Manzi Ndamukunze
Centre-Alliance for Rare Disease in Rwanda
Building a Rare Diseases Community in Rwanda: The Centre-Alliance for Rare Disease's Approach to Awareness Advocacy and Care.
Soeren Gersting
Iniuva GmbH
AI-Powered Drug-Target Interaction Prediction for Protein Misfolding-Associated Inborn Errors of Metabolism (IEMs)
Philippe, Victor or Jean-Guy
QuickSTAT
Expert in Life-Saving, Life-Changing Healthcare Logistics
Suja Somanadhan
University College Dublin
Assessing the Impact of Rare Diseases on Children and Young People in Ireland: Functional Status, Quality of Life, and Family Dynamics
Suja Somanadhan
University College Dublin
Where are Our Voices in Rare Disease Research? - Locating Children & Young People as Active Contributors in Rare Disease Research by establishing the RAiN Children/Young Persons Research Advisory Group (CRAG)
June Kinoshita
FSHD Society
Project Mercury: A new patient-driven global collaboration to bring treatments to patients with FSH Muscular Dystrophy
Alyson Farr
Orthostatic Tremor UK Support Group
Raising Awareness
Bassem Sadek
College of Medicine and Health Sciences, United Arab Emirates University
Histamine h3 receptor antagonism attenuates neuroinflammation and autistic-like behaviours in btbr t+ tf/j mouse model of autism
Joanne Lee
Newcastle University
Introducing PaLaDIn: improving the use of rare NMD patient data to inform healthcare decision making
Lucia La Sala
Multimedica
GLP-1 effects on inflammation and mitochondrial function of chronic intestinal pseudo-obstruction rare disease:
Amy Rudd
Remap Consulting GmBH
Are Acute Therapies and Curative Drugs More Affordable Than Chronic Treatments in Rare Diseases? an Analysis of the Top 10 Most Expensive Drugs in the US Compared with Germany.
Xiaochen Ji
Dalian Medical University；University of Sheffield
Gitelman Syndrome and Diabetes
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