New Discovery in the Field of Sudden Death – Timothy Syndrome

SADS UK and the 1st International SADS Conference instrumental in identifying of new gene implicated in causing Sudden Arrhythmic Death Syndrome (SADS)

The 1st International SADS Conference held by SADS UK in 2002 was heralded the first of its kind, bringing together eminent Professors in their specialist areas of cardiology from the UK and overseas, together with medical professionals, genetic researchers and families who were living with cardiac conditions that may cause a potentially fatal cardiac arrhythmia.

Today SADS UK were thrilled to be contacted by Genetic Researcher, Katherine Timothy from the Howard Hughes Medical Institute to announce an exciting new discovery in the field of genetic research and even more delighted to hear that the conference had been facilitative in bringing this new discovery about.

The genetic cause of a devastating but rare childhood disorder which underlies a form of severe cardiac arrhythmia and syndromic autism had been identified. The Syndrome is to be called Timothy Syndrome in honour of Katherine Timothy’s long and distinguished career as a scientist investigating the causes of cardiac arrhythmias.

‘It was so wonderful that Anne Jolly of SADS UK invited me to the Conference, to participate. Through meeting with families I was able to identify another LQT/syndactyly patient, which was completely remarkable and a great blessing for me and the furthering of our research’
Katherine Timothy, Genetic Researcher, Howard Hughes Medical Institute

‘SADS UK knew that bringing together professionals and families had been valuable and many networks and friendships have been forged from the 1st International SADS Conference. The new discovery this has brought about has really been the ‘icing on the cake’. We greatly admire Katherine Timothy’s dedication and congratulate Katherine and the Howard Hughes Medical Institute in this wonderful new discovery’
Anne Jolly, Chair, SADS UK

SADS UK are dedicated to helping those who have been impacted by cardiac arrhythmia, providing support and information to those affected. Recently they held a conference in conjunction with the Oxford Genetics Knowledge Park. SADS UK were instrumental in the successful Arrhythmia Awareness Campaign that helped lead to an extension to the NSF to include arrhythmias and sudden cardiac death. They have been invited onto a panel of experts to help write this chapter. Howard Hughes Medical Institutehttp://www.hhmi.org//news/keating6.html

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