Ciliopathy Alliance receives Awards for All Grant to Develop 3-Year Strategic Workplan

on Sunday, 20 July 2014.

cmyk big pinkThe Big Lottery’s Fund Awards for All programme has awarded the Ciliopathy Alliance a grant of £9,400 to help further its mission to improve the quality of life of children and adults born with some of the world’s rarest, incurable life-threatening diseases - known collectively as ciliopathies.

The Awards for All grant will be used to develop a 3-year strategy which will advance standards of care and promote best practice to support the health and activities of people with ciliopathies. It will enable the Ciliopathy Alliance to unify the voices of the different sets of patients and families, to advocate for equality in commissioned health and social care services, giving those affected a better chance in life.

About Ciliopathies

cilia-temCiliopathies are caused by defective or dysfunctional cilia, which are microscopic, hair-like structures found in every mammalian cell. Once thought useless or vestigial, cilia are now known to be essential to human development. When they don’t grow or work normally, they cause organs in the body to malfunction, resulting in a range of devastating conditions such as diabetes, blindness, deafness, heart disease, kidney failure, infertility and cognitive impairment.

Over 100 separate ciliopathies have been identified including: Alström Syndrome, Bardet-Biedl Syndrome, Jeune ATD, Joubert Syndrome, Polycystic Kidney Diseases: autosomal dominant (ADPKD) and recessive autosomal recessive (ARPKD); Primary Ciliary Dyskinesia, Retinitis Pigmentosa, Usher.

Whilst each named ciliopathy has a distinct natural history, there are many clinical overlaps, for example an individual with Bardet-Biedl Syndrome may also have Cystic Kidney Disease; and visual impairment from defective cilia in the retina is found in many of the ciliopathies.

These are complex, chronic and disabling conditions. There is limited or no awareness about their progression and the impact on the children and adults affected, and on their families/carers. Common for these disadvantaged children are health inequalities, such as late or misdiagnosis, early morbidity and premature mortality, fragmented care pathways and impoverished quality of life.

Dr David Miller, chair of the Ciliopathy Alliance, said: “We are delighted to have received this Big Lottery Awards for All grant. It will be pivotal in allowing the Ciliopathy Alliance to develop a long-term strategic plan that is integral to being able to deliver the support needed by patients and families living with and affected by ciliopathies.”

Tess Harris, Secretariat, Ciliopathy Alliance, and CEO of the PKD Charity, a Ciliopathy Alliance member, said: “This grant will enable us to conduct a comprehensive and inclusive consultation with all the ciliopathy patient groups and in particular reach out to those individuals with a condition so rare as to make the formation of an individual support group impracticable. It will strengthen our embryonic alliance of patients and patient organisations, improve partnership-working and sharing of best practice.”

Find out more about the ciliopathies here.

About the Ciliopathy Alliance

The Ciliopathy Alliance was established in 2011 by patient organisations, researchers, doctors and allied health professionals who support children and adults living with ciliopathies. Since launch, the Alliance has organized the first international conference on cilia attended by over 300 scientists and clinicians, and a family conference (funded by Genetic Disorders UK) which brought families, clinicians and scientists together to discuss the realities of living with ciliopathies.

About Awards for All

The Big Lottery's Fund Awards for All offers community, voluntary and statutory groups the chance to apply for small grants of between £500 and £10,000 that will have a big impact on local communities and the lives of people most in need.

The Big Lottery Fund was formally established by Parliament on 1 December 2006. The Fund  is responsible for giving out 40% of the money raised for good causes by the National Lottery. The Fund is committed to bringing real improvements to communities and the lives of people most in need and has been rolling out grants to health, education, environment and charitable causes across the UK. Since its inception in 2004 we have awarded close to £6bn.

ENDS

For more information:
Contact Tess Harris
This email address is being protected from spambots. You need JavaScript enabled to view it.This email address is being protected from spambots. You need JavaScript enabled to view it.
Tel: +44 7793 819868

To find out more about the Ciliopathy Alliance and the ciliopathies
www.ciliopathyalliance.org

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