Deafness Research UK Supports launch of Ciliopathy Alliance UK

Deafness Research UK sponsored the inaugural meeting for Ciliopathy Awareness Day on 29 November, held at the Institute of Child Health at University College London. Deafness Research UK’s sponsorship means that the top experts from around the country specialising the clinical areas surrounding Ciliopathy were able to attend, bringing everyone together for launch of the newly-formed Ciliopathy Alliance UK.
Dr Dan Jagger, Royal Society University Research Fellow, UCL Ear Institute, said: “Many rare diseases are also known as “orphan” conditions. Their rarity means that few scientists carry out research into them, and major pharmaceutical companies do not pursue the development of therapies as they cannot see a profitable result from only a handful of patients. However, recent developments in research have shown us that several such diseases are related, they are linked by the function (and dysfunction) of the cilium. Ciliopathy Alliance UK is working to encourage research into the family of ciliopathies, which will be mutually beneficial to all of the individual conditions.  As we learn more about the cilium and the numerous genes that control how it normally works, we will gain a greater understanding of the ciliopathies, and be able to develop targeted therapies for patients with these life-threatening diseases.”      Dr Rachel MacDonald, Research Development Manager at Deafness Research UK, said: “Ciliopathies may not be headline grabbers, but they should be. The most recent research suggests that many genetic conditions once thought to be unrelated, may be highly related due to having defective cilia as their previously undetected root cause. As a charity committed to the importance of research, our aim is to facilitate events like this, to support both professionals and those affected. We are pleased to help Ciliopathy Alliance UK off to a flying start.”  Despite being discovered as long ago as 1898, cilia were ignored for almost a century. Originally believed to be vestigial with no important function, this view has been rapidly re-evaluated, with scientists forced to recognise their importance in cell function. It has been found that dysfunctional cilia can be responsible for everything from deafness to polycystic kidney disease and congenital heart disease. Cilia play an important role in the function of so many human organs that further research is essential. Defective cilia are believed to be the underlying cause of many devastating genetic conditions. Some conditions are very rare and little known, so the new Ciliopathy Alliance aims to bring interested groups, including affected families, clinicians and scientists together to share knowledge and experience and progress the search for cures through medical research.

Ciliopathy concerns defects in the function or structure of cilia – the small, hair like protuberances to be found on the surface of virtually every cell in the human body.  Defective cilia can have serious implications for diseases in many parts of the human body, from the kidneys to the inner ear, which is where Deafness Research UK comes in. Key speakers at the meeting included Dr Hannah Mitchison of the newly created Ciliopathy Alliance UK, Professor Philip Beales and Kay Parkinson, the CEO of Alstrom Syndrome UK. A full list of speakers and a programme of the day’s events is available online at www.ciliopathyalliance.org.uk or email info@ciliopathyalliance.org.uk for more information.ENDS               Notes to editors:About Ciliopathy Alliance UKThe Ciliopathy Alliance UK is an alliance of medical researchers, doctors and patient organisations representing patients and families suffering from ciliopathy diseases. Ciliopathy diseases are caused by defects in the function or structure of cilia, small hair-like protuberances, like antenna, found on the surface of virtually every cell in the human body. Once thought to be vestigial organs, defective cilia are now understood to underlie a number of devastating genetic conditions including: Alstrom Syndrome, Laurence-Moon-Bardet-Biedl Syndrome, Nephronophthisis, Orofaciodigital Syndrome, Polycystic Kidney Disease, Primary Ciliary Dyskinesia, Senior-Loken Syndrome, Usher Syndrome.

The Alliance was formed to:

  • Share knowledge and understanding
  • Promote awareness of ciliopathies and the respective patient organizations
  • Encourage collaborative research and facilitate where possible
  • Apply for research funding from government, trusts and foundations

Further information can be gained by visiting www.ciliopathyalliance.org.uk             About Deafness Research UK

  • Deafness Research UK is the country’s leading charity dedicated to finding new cures, treatments and technologies for deaf, hard of hearing and other hearing impaired people.
  • The charity supports high quality medical research into the prevention, diagnosis and treatment of all forms of hearing impairment including tinnitus.
  • Deafness Research UK is entirely dependent on voluntary donations, gifts and personal legacies. You can donate online at www.deafnessresearch.org.uk , or call 0207 7833 1733 for further information on how to support the charity. 
  • The Deafness Research UK Advisory Service provides free information and advice based on the latest scientific evidence and is informed by leading experts in hearing research. The Advisory Service can be contacted on Freephone 0808 808 2222.          
  • For more information on research into deafness, tinnitus and other hearing conditions, log on to the website at www.deafnessresearch.org.uk where you can access a wide range of information. Alternatively you can e-mail Deafness Research UK at info@deafnessresearch.org.uk
  • One in seven people in the UK – almost nine million people - suffer hearing loss.
  • Deafness Research UK was founded in 1985 by Lord (Jack) and Lady Ashley of Stoke.
  • In January 2008, Action for Tinnitus Research (ATR) was linked with Deafness Research UK under a uniting direction order under section 96(6) of the Charities Act 1993. The Ciliopathy Alliance is an alliance of medical researchers, doctors and patient organisations representing those affected by ciliopathic diseases. The aims are to share knowledge, promote awareness of related diseases and encourage a collaborative approach to research, ensuring all patient groups are invited to take part in the discussions.

Press enquiries: Jon Gardner, BeyondPR. www.beyondpr.co.uk Mobile 07930 697773. Direct line 0114 275 6996. e-mail: jon.gardner@beyondpr.co.uk  Ref: DRUK0320 – Ciliopathy Awareness Day 2010www.deafnessresearch.org.uk

The Ciliopathy UK Alliance covers conditions such as Polycystic Kidney Disease (PKD) and Retinitis Pigmentosa (RP), Alstrom Syndrome, Primary Ciliary Dyskinesia (PCD) and Laurence-Moon-Bardet-Biedl Syndrome (LMBBS). Most of those conditions are very rare, but grouped together they affect around one in 1000 people in the UK, and therefore have a significant medical impact.
Last updated on 22nd December 2011
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