The Ciaran Buckley Trust aims to promote and fund research into genetic skin disorders and ocular genetics. In our support of the research departments of Dr Harper and Dr Willoughby, we trust we have found worthy projects of international importance and repute, and ones that align directly to the objectives of the Trust.

• Professor John Harper, Great Ormond Street Hospital

Professor Harper is a consultant in Paediatric Dermatology and the Deputy Clinical Director of the Medical Unit at the Great Ormond Street Hospital for Children NHS Trust.

Professor Harper is the founder Secretary of the British Society for Paediatric Dermatology and Chairman from 1988 to 1991, then President of the European Society for Pediatric Dermatology from 1993 to 1996.

In 2007 the Trust donated £7000 to help Professor Harper further his research into ichthyoses and other skin conditions related to KID syndrome.

• Dr Colin Willoughby, dept of Queen’s University Belfast

Dr Colin Willoughby is a Consultant Ophthalmic Surgeon/Senior Lecturer in Ophthalmology, Queen’s University Belfast and Royal Group Hospitals, Belfast. Part of the money raised by the Santiago walk in 2007 was donated to his department the Centre for Vision Sciences to fund their research.

The research strategy of this grouping has been to build on proven strengths that are focused on fundamental and clinical investigative aspects of retinal microvascular and degenerative diseases. Dr Willoughby specialises in opthalmology and ocular genetics; his future plans include translation of his research to a clinical level and broader research into the eye.

The opthalmology lab of Queen's University is one that rivals Moorfields of London in its repute and standards of equipment. Dr Willoughby's lab has its own DNA sequencer, incalculable in its importance and utility. The role of philanthropy is very important; the opthamology lab was initally funded almost entirely by charitable donation. With the money donated in Ciaran's name before the walk last year, Dr Willoughby purchased for his own research a laboratory fridge (shown below) in which to keep all his DNA samples, the basis of his research.

When the Trust visited Dr Willoughby with the Trust's donation, he was extremely appreciative of everybody's efforts and generosity. He gave us an extensive tour of his impressive laboratory and, in particular relation to the Trust and Ciaran, gave me a copy of his paper on KID syndrome which specified the 'missense mutations in GJB2 encoding connexin-26' gene as the cause of the disease.

KID syndrome and ocular genetics are his particular specialities, though funding for research into this is difficult to come by and so studies are normally within the more general spectrum of skin cancer. Funding from places such as The Ciaran Buckley Trust allow him to focus on more specific areas of genetic research.

To find out more about Dr Willoughby's work, please visit his research page.

• Local projects

The Trust has recently become associated with the Surrey Association for Visual Impairment (SAVI). SAVI helps people in the Surrey area with visual impairment, but also has a dedicated unit to help people with both visual and hearing loss. Through this association, the Ciaran Buckley Trust hopes to be able to help individuals in the local area who suffer from similar daily problems as Ciaran did.

For more information please visit SAVI.

If you would like to recommend a project for support by the Trust please contact us.