Caroline Harding
Former 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.
