Presentations 2017
Libby Clegg
Paralympic, World, European and Commonwealth champion sprinter
Keynote dinner speech
Nisha Tailor
Head of Policy & Public Affairs
Association of Medical Research Charities
How will Brexit impact on UK medical research and patients with genetic disorders?
Nisha Tailor explains how medical research and patients with genetic disorders in the UK could be affected by Brexit, and the work underway to achieve the best possible outcomes for all.
Lisa Jamieson
Research Fellow
The Wingate Institute for Neurogastroenterology and The Royal London Hospital
The importance of patience and gentle persistence
Lisa Jamieson talks about how a sudden illness led to her discovering a new way of managing the symptoms of hypermobile Ehlers Danlos syndrome.
Claire Hennessey
Development Officer
Max Appeal
Managing health professionals’ engagement with a complex syndrome
Claire Hennessey discusses how Max Appeal has used a consensus document to engage medical professionals and initiate other important projects to raise awareness of 22q11 deletion syndrome.
Dr Julie Vallortigara
Research Officer
Ataxia UK
Keeping disorder-specific medical guidelines up to date and preparing training days for healthcare professionals
Dr Julie Vallortigara explains the process Ataxia UK is using to update its medical guidelines, and how the charity engages with medical professionals through the organisation of training days.
Patricia Osborne
CEO
Brittle Bone Society
Charting the Brittle Bone Society’s own course in research
Patricia Osborne gives an overview of the journey the Brittle Bone Society has been on to host its first scientific symposium in February 2017.
David Hartley
Chairman & Co-Founder
The XLP Research Trust
Medical research symposia: An investment that pays back again and again
David Hartley explains how The XLP Research Trust has developed a bi-annual global medical research symposium that draws in researchers from across the world.
Natalie Douglas
CEO
Healthcare at Home
Care in the place you most want to be
Natalie Douglas talks about the work of Healthcare at Home and its ambition to support families affected by genetic disorders by providing vital medical support outside of hospital.
Sam Carlisle and Sally Land
Co-Founders
Cause Communications
How to prepare and get the most out of your PR
Sam Carlisle and Sally Land talk about ways a genetic disorder charity might approach PR, how to manage media relationships and what to do in a crisis.
Rebecca stewart
Co-Founder
Rare Revolution Magazine
Giving a voice to patients affected by genetic disorders and the charities that support them
Rebecca Stewart discusses her hopes and ambitions for a Rare Revolution with the launch of a new online magazine.
Margarita Sweeney-Baird
Founder
Inclusive Skating
Inclusive Skating: A novel approach to the development of sporting opportunities for those with genetic disorders
Margarita Sweeney-Baird talks about creating the first Inclusive Skating for Genes British Championships and why we need an Inclusive Sport for Genes development programme.
Rachael Robinson
Marketing and Communications Officer
Over the Wall
A serious fun camp for children with life-limiting illnesses and their families
Rachael Robinson presents the Over the Wall residential camps that allow children to reach beyond the perceived limitations of their illness in a physically safe and medically sound environment.
Virginia Govoni
Partnerships Manager
Centre for Population Genomic Medicine
The Centre for Population Genomic Medicine.
Virginia Govoni introduces the Centre for Population Genomic Medicine and explains how the East London Genes & Health project will contribute to the development of new therapies for patients with genetic disorders.
Michaela Damin
Founder and Chair
Barth Syndrome Trust
Punching above our weight: How extremely rare disease patient groups can plan for success
Michaela Damin talks about some of the steps her charity has taken to plan for long-term success and how she is leveraging resources to achieve results.
Professor Emma Morris
University College London
University College London Hospital and the Royal Free Hospital, London
The evolution and future of bone marrow transplantation
Ben Nunn outlines the implications of NHS England and NICE’s proposed changes to the way treatments are appraised and funded on the NHS.
Ben Nunn
Associate Director
Specialised Healthcare Alliance
Redefining the affordable
Ben Nunn outlines the implications of NHS England and NICE’s proposed changes to the way treatments are appraised and funded on the NHS.
Derek Hill
Head of Growth Partnerships
Just Giving
Reach more supporters and raise more online, whatever your cause may be.
Derek Hill shares insights into how charities and patient groups can use the JustGiving platform and tools to grow income, whilst leveraging the networks and crowdfunding potential of givers and advocates closest to your cause.
Kay Parkinson
Founder & Director
Alstrom Syndrome Europe
A parent’s journey
Kay Parkinson talks about how rare diseases have changed her life.
