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RAREsummit23 poster gallery

Meet the RAREsummit23 poster exhibitors who’ll be showcasing research and patient journey posters at the event.

John Walton Muscular Dystrophy Research Centre

Patient Registries at the JWMDRC: where we are now and where we might go next

Researcher-Caregiver Engagement in Lowe Syndrome and Dent Disease

Researcher-Caregiver Engagement in Lowe Syndrome and Dent Disease

Drug repurposing to treat the rare genetic disease alkaptonuria (AKU)

Drug repurposing to treat the rare genetic disease alkaptonuria (AKU) – The AKU Society

Loughborough University Noonan Syndrome Association

Living with Noonan Syndrome – Loughborough University & The Noonan Syndrom Association

Timothy Symdrome Alliance poster image

CACNA1C-related disorders (CRD) & Timothy Syndrome Alliance (TSA)

Researcher-Caregiver Engagement in Lowe Syndrome and Dent Disease

Galactosialidosis disorder and path to gene therapy/cure

Bionical EMAS poster image

Developing a Decision-Making Framework for Expanded Access to Gene Therapy in Rare Neuromuscular Diseases

Ben's Friends poster image

You Are Not Alone by Bensfriends.org

Timothy Symdrome Alliance poster image

NIHR BioResource – Ensuring Inclusive Research

Researcher-Caregiver Engagement in Lowe Syndrome and Dent Disease

Rare neurogenetic disorders and the importance of patient advocacy groups

Timothy Symdrome Alliance poster image

Episodic neuropathic pain associated with a novel nonsense mutation in the SCN10A gene, encoding the voltage-gated sodium channel Nav1.8: a case report

Ben's Friends poster image

Trust and Confidence: Falling through the Gaps in the UK Rare Diseases Framework?

Timothy Symdrome Alliance poster image

Find the cause of a rare disease

Researcher-Caregiver Engagement in Lowe Syndrome and Dent Disease

Jordans Guardian Angels

Bionical EMAS poster image

Think Rare Think Porphyria

Ben's Friends poster image

An introduction to CASK disorders

Timothy Symdrome Alliance poster image

The DMD Hub Central Recruitment Database

Researcher-Caregiver Engagement in Lowe Syndrome and Dent Disease

The Performance of a 22q11.2 Deletion Syndrome Case-Finding Algorithm in NHS Primary Care Data

Bionical EMAS poster image

Cure DHDDS

Ben's Friends poster image

Employing AI/Machine Learning in Rare Disease: Living with Arachnoiditis

Timothy Symdrome Alliance poster image

UK Rare Epilepsies Together (UKRET): A New Network for Collaborative Change.

KAT6A logo

KAT6A and KAT6B Syndromes – KAT Foundation

KAT6A logo

DDX3X Support UK

Smith Magenis

Smith-Magenis Syndrome

Timothy Symdrome Alliance poster image

SeqOneRank+, a machine learning model to rank genetic variants based on phenotypes and ACMG standards criteria