On Tuesday 14th October, PCD Research and Alexion Astra Zeneca Rare Disease hosted a Rare Disease Summit.
PCD Research is calling for action across the rare disease landscape to enable treatments for patients with a rare disease (download a copy of the brochure with the details below).
There are around 3.5 million people in the UK living with a rare disease, and while 80% of these are genetic or have a genetic component, most will go undiagnosed for years – and some, for a lifetime. The summit will bring together UK and international leaders from science, healthcare, government and industry to identify practical actions that will transform the diagnosis and treatment pathway for people living with a rare condition.
The summit was delivered in two parts:
PART 1 – Ending the Diagnostic Odyssey in Rare Disease: Designing a Framework for Delivery.
Moderated by Luisa Baldini, former BBC correspondent.
Speakers included:
Deborah Richards, Vice President & General Manager, Alexion, AstraZeneca Rare Disease, UK & Ireland
Steve Bates OBE, Executive Chair of the Office for Life Sciences
Professor Dame Sue Hill, Chief Scientific Officer for England and NHS Genomics Programme Senior Responsible Officer
Dr Richard Scott, Chief Executive Officer of Genomics England
Professor Stephan Sanders, Director of the MRC Centre for Research Excellence in Therapeutic Genomics and Professor of Paediatric Neurogenetics, University of Oxford
Dr Alan Karthikesalingam, Research Scientist, Google DeepMind
Dr Charlotte Guzzo, Co-Founder and Chief Operations Officer, Sano Genetics
Karen Skinner, Chief Operating Officer, LifeArc
Adam Clatworthy, Vice Chair, Rare Conditions Participant Panel, Genomics England
PART 2 – Unlocking the Future of Rare Disease Treatment
Hosted by PCD Research; Co-sponsored by Alexion, AstraZeneca Rare Disease; GSK; Eli Lilly; LifeArc; Weatherden.
Moderated by Dr Alex Mahon, former CEO of Channel 4.
Speakers included:
Dr Harriet Holme, Executive Chair of PCD Research and Drug Development Clinician, Weatherden
Julian Beach, Interim Executive Director for Healthcare Quality & Access, MHRA
Dr Zubir Ahmed, Parliamentary Under-Secretary of State for Health Innovation and Safety, Department for Health and Social Care
Professor Stephan Sanders, Director of the MRC Centre for Research Excellence in Therapeutic Genomics and Professor of Paediatric Neurogenetics, University of Oxford
Fireside Chat
Lord David Cameron, Chair, Advisory Council of the Oxford-Harrington Rare Diseases Centre (OHC) with Professor Matthew Wood, Director & Chief Scientific Officer of the OHC in conversation with Dr Harriet Holme, Executive Chair of PCD Research
Dr Duncan McHale, Co-Founder and Drug Development Expert, Weatherden
