Caroline Harding

CEO
Genetic Disorders UK

Welcome

Caroline Harding introduces the work of Genetic Disorders UK and provides an overview of the day’s programme.

Dr Patrick Harrison

University of Cork

Gene editing for genetic disorders – cut, correct and cure?

Dr Patrick Harrison explains what gene editing is (and isn’t), shows how it is being used as a research tool for a range of genetic disorders, and discusses the challenges in bringing this technique to the clinic.

Amanda Walburn-Green

Mother

Georgia’s journey: The story of the first child diagnosed by the 100,000 genomes project

Amanda Walburn-Green talks about her search for a diagnosis for her daughter, Georgia, and how it felt to finally get a name for the genetic disorder that affects her special little girl.

Andrew Wilkinson

Deputy Director
Specialised Healthcare Alliance

The evolving landscape for the management of genetic disorders within the NHS

Andrew Wilkinson provides an overview of how genetic disorders are managed at a national level as part of specialised commissioning and the changes that may affect patients and clinicians in the months ahead.

Gretchen Shoring

Managing Director
Citizen Films

How to.… make a short film about your genetic disorder.

Gretchen Shoring talks about the key components to making an engaging film about a genetic disorder and how patient groups might approach making a film regardless of budget.

David Head

Chief Executive
The Haemochromatosis Society

Collaboration Works! The Haemochromatosis Society and Boots Pharmacies

David Head explains how The Haemochromatosis Society was able to secure the support and co-operation of Boots Pharmacies to create CPD level training material for their pharmacies and pharmacy technicians.

Professor Adrian Sutton

Consultant in Child & Family Psychiatry and Psychotherapy

The teenage years: The evolving nature of dependence and interdependence

Professor Adrian Sutton gives an overview of the relational challenges for teenagers, parents and practitioners when families are affected by a genetic disorder.

Holly van Geffen

Always have hope

Holly van Geffen talks about how a can-do attitude motivated her to achieve her aspirations throughout her teenage years despite the challenges of a life-limiting genetic disorder.

Annabelle Davis

Life as a teenager with a genetic disorder

‘Always looking up’ – Annabelle Davis speaks about how she has taken life’s emotional and physical challenges in her stride with determination and optimism.

Dr Christine Patch

Consultant Genetic Counsellor
Guy’s Hospital

Providing genetic counselling to teenagers affected by a genetic disorder

Dr Christine Patch discusses the provision of genetic counselling to both carrier and affected teenagers, and provides a practical overview of the approach to this evolving area of counselling.

Jacqueline Ali and Holly-Rae Smith

Cystic Fibrosis Trust

Using online tools and social media to build and support relationships between teenagers

Jacqueline Ali and Holly-Rae Smith discuss how the Cystic Fibrosis Trust used a short film to kick start a programme of online engagement with teenagers affected by cystic fibrosis.

Robert Jones

Managing Director
Noovo Creative

How to… make a website fit for 2016 and beyond

Robert Jones explains some of the easy ways to improve and manage a website in just a few minutes a week and explains how to give visitors a better user experience.

Julia Hodgson

Practice Development Manager
Together for Short Lives

Transition: Supporting young people move into adulthood

Julia Hodgson discusses the problems faced by many young adults with complex health conditions as they transfer from children’s to adult services, and outlines the work that the Transition Taskforce is doing to address them.

Laura and Tori

Courage is Compulsory

Laura and Tori discuss the book they have written together about disability and the lessons they have for young people and their families who are facing similar challenges.

Sophie Dziwinski

Roald Dahl’s Marvellous Children’s Charity

Securing funding for rare disease nurses with the NHS

Sophie Dziwinski talks about the work of the Roald Dah’s Marvellous Children’s Charity in supporting genetic disorder patient groups and how her team has helped secure new rare disease nursing posts within the NHS.

John van Geest Centre for Brain Repair, University of Cambridge

Daniel Lewi, Co-founder and Director, Cure & Action for Tay Sachs Foundation & Mel McIntyre, Managing Director, OpenApp

Creating an online patient registry

Daniel Lewi and Mel McIntyre talk about their collaboration to create an online patient registry in the UK for Tay Sachs.

Richard Lynn

Scientific Coordinator
British Paediatric Surveillance Unit

Monitoring rare disease in the child population

Richard Lynn talks about the work of the British Paediatric Surveillance Unit and how the sharing of data is evolving to identify children affected by rare genetic disorders.

Dr Pauline McCormack

Policy, Ethics & Life Sciences Research Centre
Newcastle University

RD Connect: big data for rare disease

Pauline talks about RD-CONNECT – an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for international rare disease research.

Dr Julie Vallortigara

Research Officer
Ataxia UK

Collaborating with industry on drug development

Dr Julie Vallortigara explains how Ataxia UK have collaborated with Pfizer on a drug discovery programme for Friedreich’s ataxia.

Dr Sara Mole

Genetics and Genomics Medicine Programme
UCL Institute of Child Health

The changing face of research into Batten disease

Dr Sara Mole discusses how her research into Batten disease has evolved over the last twenty years and reflects on where she hopes her current work on new drugs and therapies will take her and the European-wide consortium she now leads.