Alström Syndrome UK Conferences
Alstrom Syndrome UK Family Conference 2008
11th Annual Conference Report by Charlotte Parkinson
This year’s conference opened with my address, in which I spoke about having hope in our Doctors, parents, carers and the people that love us. Following that, Doctor Anand Saggar gave a talk on Genetics today, Dr Saggar is Senior Consultant in clinical genetics, from st. George’s NHS trust London: an interesting and innovative talk, about genetics, and in particular, the "nonsense gene." He described this, using some simple yet, clever sentences, for example, "The cat sat on the mat." Followed by the "The cat sat on the tap." To illustrate incorrect messages getting through to organs and reeking havoc with them. At the end of his examples, was one that made no sense at all, again signifying, how tangled things can be if the right message doesn’t get through to the right place in genetics.
Next we had The Cilium: presented by Doctor Daniel Jagger, the centre for auditory research, University college London. He asked some very pertinent questions relating to Cilium and Alström Syndrome. Namely, “Cilium: what it does? And why it goes wrong in Alström syndrome?” Danniel Jagger has recently joined us and at the last clinic in June he performed a number of smell tests on the adult patient group.
You can download and read Dan’s talk here as either a PDFor here as a plain text document.
Other speakers included: Dr Richard Paisey, (Torbay Clinical Lead), Prof Tim Barrett, (Birmingham clinical lead), Doctor Ashish Chikermane, (heart investigations), Hazel Riggal (dietry guidelines). In the afternoon, an RNIB presentation was given by Pip Harris from the RNIB Transcription centre Southwest, followed by open work shop sessions, where such issues as The difference direct payments can make (Kay Parkinson) was featured. An opportune given from HUMANWARE for their equipment to be inspected by all, and also, a chance was offered for individual discussions with the medical teams. There was also an opportunity to talk to a member of the ASUK board.
Finally Kerry Leeson this years conference organiser, spoke about the developments made this year as a result of the family consultation, session, in London, at last years conference.
The conference closed, and the day’s events were rounded up before everyone ajerned for dinner and the charity auction.