RAREsummit26 poster gallery
Meet the RAREsummit26 poster exhibitors who’ll be showcasing research and patient journey posters at the event.
Understanding KAT6 Syndrome – KAT6 Foundation
Rapid Growth & Development of NARS1 Patient Directed Research Organization – The Rory Belle Foundation
Lived Experience: Insights into Barth syndrome – Barth Syndrome UK and Metabolic Support
MVA – Cracking one of the World’s Rarest Conditions – MVA Society
Co-designing improvements to systems of care and support to tackle inequality of access for people affected by Atypical Parkinsonian Syndromes – University of Hertfordshire
Bringing Hope to Unexplained, Catastrophic Regression in Childhood – Beyond Disintegration –
Patient passport addresses unmet needs of rare disease patients – Cambridge Rare Disease Network
Rare Disease Research Network (RDRN) – Turning Research on its Head – Cambridge Rare Disease Network
A high throughput platform for studying rare disease mechanism and drug repurposing using nematodes – Imperial College London
Collectively common: the devastating impact of rare kidney diseases in the UK. A call for investment, innovation and quality care – Kidney Research UK
The Impact of Disordered Breathing Episodes on Individuals with Pitt-Hopkins Syndrome and their Families: A Qualitative Study – University of Cambridge
Assessing the accuracy of an automated machine learning approach for the detection of rare and underdiagnosed diseases in primary care – OpalMedica
The Invisible Cost of Rare Disease – Sobi
Helping hope become reality – The Maddi Foundation
Healthcare utilisation of people living with lysosomal storage disorders in Wales – Public Health Wales
Lynch syndrome in Wales: insights from routine data adapted for surveillance and screening – Public Health Wales
Establishing an International Rare Disease Mirror and Action Group in the UK – Newcastle University
Gene2Phenotype: accelerating genomic medicine with high confidence evidence based gene disease models – EMBL-EBI
Beyond Advocacy: Understanding Effective PAG–Pharma Collaboration in Rare Disease Drug Development – Imperial College London
The diagnostic journey of Type 1 Gaucher disease in UK primary care: a retrospective longitudinal electronic health record study – Mendelian