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.


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 

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

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

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

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

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

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

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.

Alex Smith

Harrison’s Fund

One single-minded goal: finding a cure for Duchenne muscular dystrophy

Alex Smith reflects on the journey he has been on to raise the profile and funding for research into Duchenne muscular dystrophy since he placed a single, multi award-winning advertisement in the Evening Standard in May 2013.