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Our purpose

To improve the lives of children and adults affected by ciliopathies - syndromes, diseases or conditions caused by dysfunctional or defective cilia.

Our purpose

To improve the lives of children and adults affected by ciliopathies - syndromes, diseases or conditions caused by dysfunctional or defective cilia.

About Us

What we do

  1. Promote, support and stimulate the sharing of knowledge and understanding of ciliopathies, nationally and transnationally
  2. Encourage and facilitate communication between patients, health professionals, researchers and other organisations that support people with ciliopathies
  3. Promote awareness of ciliopathies and the respective patient organisations
  4. Promote, sponsor and/or participate in national and transnational laboratory, transitional and clinical research into ciliopathies and related syndromes, with the aim of developing effective therapies and management of patients with ciliopathies
  5. Invite and encourage patient involvement in research and clinical management of ciliopathies
  6. Provide information that will benefit people with ciliopathies, in particular to those patients who do not have a condition/disease-specific support group and those in hard-to-reach geographical/ethnic communities
  7. Provide information and educational materials for health professionals and similar with the aim of improving diagnosis, clinical management and social care
  8. Communicate with/ lobby national and international governments and other relevant organisations to promote the interests of people with ciliopathies and encourage an integrated approach to their health and social care
  9. Organise conferences, symposia, workshop and similar, and support the publication and/or dissemination of information and best practice about ciliopathies
  10. Co-operate with other charities, alliances, voluntary organisations and statutory bodies to further the interests of people with ciliopathies

History and constitution

The Ciliopathy Alliance was formed in the UK in March 2010 and launched at a Cilia Awareness Day in November 2010.

Founder members of the Ciliopathy Alliance include:

Board of Trustees/Secretariat

Prof Hannah Mitchison

Prof Hannah Mitchison

Professor of Molecular Medicine - University College London, Genetics & Genomic Medicine Dept
Mrs Fiona Copeland

Mrs Fiona Copeland

Fiona is a patient advocate for Rare Diseases who was awarded a British Empire Medal for chairing the PCD Support Group and raising awareness of PCD in the 2021 New Year’s Honours.

Dr Elizabeth Forsythe

Dr Elizabeth Forsythe

Elizabeth Forsythe is a consultant in clinical genetics with a specialist interest in Bardet-Biedl syndrome, ciliopathies and therapies for rare genetic conditions.

Mrs Tonia Hymers

Mrs Tonia Hymers

I am an operations manager with experience in team management, contract management, publications development and editing, bid writing, service and strategy development and events.

Mrs Kerry Leeson-Beevers

Mrs Kerry Leeson-Beevers

Kerry has lived experience as her son is diagnosed with AS which is an ultra-rare and complex condition. She is a patient representative on the England Rare Diseases Framework Delivery Group and is co-applicant on various NIHR funded research studies.

Dr Roly Megaw

Dr Roly Megaw

Roly Megaw is an academic ophthalmologist with a clinical and research interest in the inherited retinal dystrophies (IRDs), a group of untreatable, monogenic conditions that are the leading cause of visual loss in children and working adults. 

Ms Tess Harris

Ms Tess Harris

Tess is the General Secretary of the Ciliopathy Alliance.

Membership

Membership is open to individuals and organisations with an interest in ciliopathies. Find out about the different categories of membership.

Full
(Organisation)

Legally constituted non-profit patient organisation.

Affiliate (Organisation)

Patient organisation not yet legally constituted.

Associate (Organisation)

Organisation which promotes and/or takes part in the activities of the Ciliopathy Alliance.

Associate
(Individual)

Individual who promotes and/or takes part in the activities of the Ciliopathy Alliance.

The Board of the Ciliopathy Alliance will decide on the acceptance of members and recommend for approval by the Full Members.

Contact us for more information or complete our membership form