RAREsummit23 poster gallery
Meet the RAREsummit23 poster exhibitors who’ll be showcasing research and patient journey posters at the event.
Patient Registries at the JWMDRC: where we are now and where we might go next
Researcher-Caregiver Engagement in Lowe Syndrome and Dent Disease
Drug repurposing to treat the rare genetic disease alkaptonuria (AKU) – The AKU Society
Living with Noonan Syndrome – Loughborough University & The Noonan Syndrom Association
CACNA1C-related disorders (CRD) & Timothy Syndrome Alliance (TSA)
Galactosialidosis disorder and path to gene therapy/cure
Developing a Decision-Making Framework for Expanded Access to Gene Therapy in Rare Neuromuscular Diseases
You Are Not Alone by Bensfriends.org
NIHR BioResource – Ensuring Inclusive Research
Rare neurogenetic disorders and the importance of patient advocacy groups
Episodic neuropathic pain associated with a novel nonsense mutation in the SCN10A gene, encoding the voltage-gated sodium channel Nav1.8: a case report
Trust and Confidence: Falling through the Gaps in the UK Rare Diseases Framework?
Find the cause of a rare disease
Jordans Guardian Angels
Think Rare Think Porphyria
An introduction to CASK disorders
The DMD Hub Central Recruitment Database
The Performance of a 22q11.2 Deletion Syndrome Case-Finding Algorithm in NHS Primary Care Data
Cure DHDDS
Employing AI/Machine Learning in Rare Disease: Living with Arachnoiditis
UK Rare Epilepsies Together (UKRET): A New Network for Collaborative Change.
KAT6A and KAT6B Syndromes – KAT Foundation
DDX3X Support UK
Smith-Magenis Syndrome
