Info. from Rare Disease UK - Genetic Alliance UK - SWAN UK

Genomics England stakeholder event

Genomics England is hosting its first stakeholder events on Thursday 3 October 2013 at St. Bartholomew's Hospital, London

We have been informed about this upcoming event and thought that you may be interested in attending as it is aimed at gathering the views of those affected by genetic conditions. Genomics England is a new company set up by the Department of Health to help deliver the 100,000 Genome Project first announced by the Prime Minister David Cameron in December 2012. This project will sequence the personal DNA code – known as a genome – of up to 100,000 patients over the next five years. This unrivalled knowledge will help doctors’ understanding, leading to better and earlier diagnosis and personalised care. Our Chair, Alastair Kent, has been appointed as a Patient and Public Engagement representative to the project. Genomics England is holding two events on 3rd October 2013 to engage with its key stakeholders:

If you wish to register for either event please visit the Genomics England website. Each event will comprise short presentations of the goals of the Genomics England programme and have short talks by people representing key stakeholders. The purpose of each event is to consult key stakeholder groups and give them the opportunity to express their views as to the mission of the Company and feed into the Company’s developing strategy.This will be followed by interactive discussion. Both events will be addressed by Sir John Chisholm, Executive Chair of Genomics England and Professor Mark Caulfield, its Chief Scientist.

In addition, there will be panels: at the morning event consisting of:

· Alastair Kent, Director of Genetic Alliance UK, Chair of Rare Disease UK · Vivienne Parry, freelance writer and broadcaster and non-executive director of Genomics England · Professor Peter Johnson, Chief Scientist of Cancer Research UK · Michael Parker, Professor of Bioethics and Director of the Ethox Centre at the University of Oxford and non-executive director of Genomics England

and at the afternoon event consisting of:

· Sir John Burn, Professor of Clinical Genetics at the University of Newcastle · Professor Patrick Chinnery, Wellcome Senior Fellow in Clinical Science, Professor of Neurogenetics at the University of Newcastle · Jo Martin, National Clinical Director of Pathology at NHS England · Professor Michael Parker

Location: The Great Hall at St Bartholomew’s Hospital, West Smithfield, London, EC1A 7BE. Light refreshments will be served.

In other news:

Accessing specialised services and medicines in Wales: Patient Engagement Events 2013

Our parent charity, Genetic Alliance UK, will be holding events across Wales in October for patients and families affected by rare conditions to talk about their experiences of accessing specialised services and medicines. The project was developed after concerns raised by patient organisations over patients in Wales gaining access to specialised services which are provided by centres in England. Patients have also experienced problems in gaining funding for medicines through Individual Patient Funding Requests in Wales. The events will provide an opportunity for patients and families to come together to highlight their experiences and discuss recommendations for improving fair access to services and therapies for patients.

Dates, times and venues are listed below:

17th October, 10.30 – 14.00, Maldron Hotel, Cardiff 23rd October,10.30 – 14.00, Dragon Hotel, Swansea 30th October, 10.30 – 14.00, Metropole Hotel, Llandrindod Wells 31st October, 10.30 – 14.00, Ramada Plaza, Wrexham.

Complimentary refreshments including a buffet lunch will be provided. For more information and to register please contact Emma Hughes, ■■■■■■■■■■■■■■■■■■■■■■■■■■■

SWAN UK (Syndromes Without A Name) Information Event at Great Ormond Street Hospital

SWAN UK will be running its first 'Undiagnosed Genetic Conditions Information Event' on the morning of 26th of November at Great Ormond Street Hospital, London. The event will bring together parents and carers of children with undiagnosed genetic conditions and health and social care professionals to share information and increase awareness of why some children remain undiagnosed, the issues this causes for their families and what support is available to them.

Talks will include:

- why some children are undiagnosed - genetic testing and why it can take so long - raising a child with an undiagnosed genetic condition - a parent's perspective.

For more information please contact ■■■■■■■■■■■■■■■■■■■■■■■■■■■■■

Thank you Alan. I've donated DNA for research. I'm unable to attend but have

registered for on-line. xB