The Medical Research Council (MRC) and National Institute for Health and Care Research (NIHR) have committed ca. £14m to establish a UK Rare Diseases Research Platform, comprising 11 “nodes” based in universities across the UK. Each node is working on a research project that is either focused on one disease area or across multiple rare diseases, and whilst the nodes are based at universities, we are also working with charities, industry and other universities to ensure that we are reaching the right people for our research.

We are the UPNAT Node (“Establishing a UK Platform of Nucleic Acid Therapy for Rare Disease”).

The aim of the UPNAT Node is to bring together relevant stakeholders to establish a national network promoting knowledge-exchanging and innovation in pre-clinical development and rapid clinical translation of Nucleic Acid Therapies for rare disease.

The agenda will include sessions on:

Real-world experience from patients & clinicians
-Piotr Kosla (parent, PACS2 Research Foundation, and Simons Searchlight Community Advisory Committee member)
-Francesco Muntoni (Chair of Paediatric Neurology, UCL)
Target selection

Stephan Sanders (Professor of Neurogenetics, Oxford)
Ana Lisa Taylor Tavares (Clinical Lead for rare disease research, Genomics England)
Clinical trials and regulatory path

Sarah Tabrizi (Professor of Clinical Neurology, UCL)
Daniel O’Connor (Director of Regulatory and Early Access Policy, Association of the British Pharmaceutical Industry)
Willeke van Roon-Mom (Professor of Human Genetics, Leiden University)
+Panel discussion, chaired by Paul Gissen (Clinical Professor of Paediatric Metabolic Medicine, UCL Great Ormond Street Institute of Child Health)