Samantha Renker
Actress and disability campaigner
Guest speaker at welcome dinner
Professor Stephen Hart
Professor in Molecular Genetics
UCL Great Ormond Street Institute of Child Health
New genetic therapies for rare diseases: from gene replacement to gene repair
Professor Stephen Hart talks about the importance of recent advances in gene therapy, including the editing of the genome to repair mutations from larger regions of DNA down to the level of single bases, as well as correcting single bases in RNA
Ed McIntosh
Associate Director, Incisive Health
Specialised Healthcare Alliance
The future of life sciences after Brexit, and recent developments within specialised commissioning in England.
Ed McIntosh reviews the UK government’s first life sciences sector deal since Brexit and provides an update on developments within specialised commissioning in NHS England.
Fiona CoPELAND
Chair
PCD Family Support Group
Making the case for service funding to NHS England.
Fiona Copeland speaks about how a collaboration between clinicians and the PCD Family Support Group led to the funding of ‘cradle to rocking chair’ services for patients with primary ciliary dyskinesia in NHS England.
Simon Butler
Head of Policy and Public Affairs
Anthony Nolan
NHS England’s funding decision-making process: a charity’s perspective
Simon Butler shares the charity’s experience of engaging with NHS England’s decision-making processes.
Romina Oxborough and Lucia von Bredow
Clinigen Consulting
Bridging the access gap
Romina Oxborough and Lucia von Bredow talk about the routes that are available to patients when a medicine is not readily accessible.
Dr Peter Fish
Clinical Lead
Mendelian
Democratising rare disease diagnosis
Dr Peter Fish presents Mendelian, the first online rare disease diagnosis service, which uses state-of-the art data science to streamline the diagnosis odyssey for families affected by a genetic disorder.
Neil Ward
Director of Marketing, EMEA
Illumina
Whole-genome sequencing: a universal test for genetic disorders?
Neil Ward explains how improvements in technology and chemistry have led to significant advances in the cost and speed of whole-genome sequencing, and what is now made possible by this progress.
Jason Gordon
Health Manager
Texthelp
Empower and Enable: The power of words
Jason Gordon explores how assistive technology can break down barriers, helping to create inclusive organisations and accessible patient information.
Sam Carlisle and Sally Land
Co-founders
Cause Communications
How to use social media to strengthen your message and grow your audience
Sam Carlisle and Sally Land provide an overview of the different social media channels and how a genetic disorder charity might use social media to engage with members and highlight key issues for their cause.
Laura Walmsley
Operations Executive
The Big Give
How match funding can boost your charity’s online fundraising
Laura Walmsley explains how match funding can help charities galvanise their fundraising and increase supporter engagement, and talks about the UK’s largest online match-funding campaign, the Christmas Challenge.
Chris Bedford-Chris Bedford-Gay
Founder and Chair
FOP Friends
In it to win it! Changing the future for children born with fibrodysplasia ossificans progressiva (FOP)
Chris Bedford-Gay talks about building a sustainable small charity, supporting patients and families, and punching above your weight in the pursuit of your charity’s ultimate goals.
Dr Sarah Mason
John van Geest Centre for Brain Repair, University of Cambridge
Gene silencing in Huntington’s disease – a step closer to disease-modifying treatments
Dr Sarah Mason discusses recent advances in the field of disease-modifying therapies in Huntington’s disease and the implications that this research may have for other neurodegenerative genetic disorders that feature the build-up of toxic proteins in the brain.
Susan Passmore
CEO
Prader-Willi Syndrome Association UK
Gideon’s Charter
Susan Passmore shares Gideon’s Charter and her team’s plans for a campaign to secure the right support, in the right place, at the right time, within all educational settings for children and young people affected by Prader-Willi syndrome.
Carrick Brown
Senior Manager, Care Services
Newlife
We have changed the law… and now it’s personal!
Carrick Brown talks about how Newlife is going to use the law, established to protect those most vulnerable in our society, to ensure access to equipment and change the landscape of statutory provision.
John van Geest Centre for Brain Repair, University of Cambridge
Chris Roys
Chief Executive
Jessie May
Providing a children’s palliative care service in the community
Chris Roys talks about the work of Jessie May nurses supporting babies, children and young people with life-limiting conditions, and their families, in their own homes and community.
Eric Appleby
Director
Disability Law Service
Fighting injustice for disabled people
Eric Appleby explains how Disability Law Service, in partnership with Genetic Disorders UK, is planning to provide free legal advice to individuals affected by a genetic disorder and their carers
David Laurence
partnership manager DISABILITY Law Service
Fighting injustice for disabled people
David Laurence explains how Disability Law Service, in partnership with Genetic Disorders UK, is planning to provide free legal advice to individuals affected by a genetic disorder and their carers.
