In this issue of Gauchers News you can read the presentations from the recent European Famiy nGD Conference, meet our seven runners for the 2009 London Marathon and read about our new website.

Dear Friends,
Happy New Year to all members and friends. On behalf of the Executive Committee I send you personal good wishes for good health and happiness in 2009.  The year ahead is going to be full of challenges and the economic situation will undoubtedly raise issues for the Gaucher world. Patients with rare diseases know only too well that their treatment is costly but they are as entitled as any other citizen to receive treatments which have been approved by the appropriate regulatory authorities.
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Prof Ernest (Ernie) Beutler, among the world’s most prominent hematologists and scientists, died at age 80 years on October 5th 2008.‘Ernie was a true genius, one who has made an impact on many and varied topics in medicine and genetics that have served as the foundations for scientific inquiry and will continue to remain important for decades to come’ writes Prof Ari Zimran who described Ernest as his mentor;
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Amicus Therapeutics, the U.S. pharmaceutical company, have recently set up a Patient Advisory Board made up of a number of Type 1 Gaucher patients from around the United States writes Tanya Collin-Histed, Executive Director of the UK Gauchers Association;
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Dr Ashok Vellodi, Paediatric Consultant at Great Ormond Street Hospital, London reports on work being carried into neuronopathic Gaucher disease by Prof Greg Grawbowski’s group from Cincinnati, USA, Dr Vellodi writes:
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Patient Organisations representing patients with Lysosomal Storage Disorders have joined together to form a new action group to work and lobby on behalf of LSD patients and their families in the UK. The group is made up representatives from the Gauchers Association, The Society for Mucopolysaccharide Diseases (the MPS Society), Battens Disease Family Association, Niemann-Pick Group (UK) and the Pompe Association, reports Tanya Collin-Histed, Executive Director of the UK Gauchers Association;
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Dr Nicholas Smith is an Australian physician specialising in paediatric neurology. Dr Smith has recently joined the University of Cambridge Lysosomal Storage Disease Research Group led by Prof.Timothy Cox where he plans to study the neuropathology of a variety of lysosomal storage disorders including Gaucher Disease. Dr Smith hopes that a greater understanding of the neurological pathogenesis in these conditions will contribute to the development of improved therapeutic interventions for patients with neurological disease. As part of his work at Addenbrooke’s Dr Smith plans to undertake a collaborative study into the role LIMP – 2, he explains the theory behind the study:
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On 4 November the All Wales Inherited Metabolic and Lysosomal Disease Service was launched at the University of Wales Hospital, Cardiff. Tanya Collin-Histed, Executive Director of the UK Gauchers Association attended on behalf of the Gauchers Association and reports on this new service for Welsh patients; 
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The Gauchers Association is pleased to announce the launch of its new website at: www.gaucher.org.uk . The new website incorporates all of the old sites information but with many new features including;
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The Association is always touched by the way its members, friends and families support patients through organising events, making donations and request donations instead of presents on birthdays and weddings and is grateful for all support, writes Treasurer Don Tendell.
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The Gauchers Association are pleased to announce the launch of their new fundraising pack. The pack is available free of charge to all members and friends who wish to raise funds for the Association. Each pack includes; balloons, stickers, posters (A4 and A3), leaflets, and sponsorship forms. A T-shirt is available on request (see picture opposite).
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The goal was to run/walk/shuffle six marathons in six days in the Sahara! Training for the event had gone well with a few days hiking in the Swiss Alps, completing the Three Peaks Challenge (including Crib Coch) in 24 hours and achieving a personal best at the Loch Ness marathon. I was still nervous and apprehensive as I boarded my flight to Cairo on the 24th of October however, and my pre race anxiety was not helped by British Airways deciding to leave my bag (containing all of my equipment!) at Terminal 5 for a further 48 hours!
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In April 2006 I ran the Flora London Marathon’ writes Dan, it was a fantastic experience and one I will remember for the rest of my life but afterwards I vowed……never again. But how soon one forgets. About 18 months later the stresses and strains of completing the 26.2 mile course must have been erased from my memory because somebody mentioned running the New York marathon and I thought to myself, “That sounds like a good idea”.
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Jeremy Manuel OBE Chairman of the UK Gauchers Association and the European Gaucher Alliance addressed the annual meeting of the Israeli Gauchers Association in Tel Aviv on 20 November 2008.
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On the week end of 28th to 30th November the fourth European Family Neuronopathic Gaucher Disease conference took place at the Hilton hotel, Northampton. 115 people being parents, carers, patients, siblings, speakers, doctors, nurses and representatives from pharmaceutical homecare companies attended the three day conference. Tanya Collin-Histed, Executive Director of the UK Gauchers Association and mother of Maddie, 14 who has Type 3 Gaucher disease opened the conference on the Saturday morning, in addressing the audience she said;
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Dr Ashok Vellodi, Consultant Paediatrician, Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust opened the formal proceedings and said;
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Dr Tony Sirimanna, Consultant Audiological Physician, Great Ormond Street Hospital for Children NHS Trust gave a fascinating overview on audiology problems experienced by nGD patients, he said;
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Dr Nicholas Smith, Lysosomal Diseases Research Group, University of Cambridge described his proposed research into the LIMP-2 protein;
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Dr Sara Eames, Director of Education and Women’s services at The Royal London Homeopathic Hospital, looked at the possibility of complimentary treatments for nGD patients, she did this by posing a series of questions and providing answers;
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Dr Paramala Santosh of Great Ormond Street Hospital, gave an indepth talk on behaviour issues in patients with lysosomal storage disorders;
“This is an area that is not often addressed at metabolic meetings. It is important to try and understand why the assessment of psychopathology is a fundamental part of the overall assessment protocol. The reason for this is that difficult behaviour is just as important a factor as physical problems in determining quality of life, and the ability of children and their families to cope.
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David Begley from Kings College, London explained how the blood brain barrier works and described possible delivery mechanism to treat LSD’s;
“My talk will be in three parts:
• A description of the BBB
• Work that has been done on targeting large molecules to the brain
• Plans for the future, especially within Europe (Brains 4 Brains)
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Kerry Hannaway, Mother of Daniel who has type 3 Gaucher disease gave a personal account of her journey with her son;
“I wanted to start my story today by showing you this holiday snap taken in August this year. It is a photo of my mum and dad taken with their six grand children and captures the lovely day we all enjoyed at Land’s End. One of their grandchildren suffers from type 3 Gaucher disease. I would suggest that for anyone looking at this photo that does not know me and my family it would be very hard to tell which one that is.
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Elin Haf Davies, PhD Student, Great Ormond Street Hospital, London, describes the work she is developing to assess and monitor patients with nGD;
“There are three aspects to my current studies
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Dr Ashok Vellodi, Consultant Pediatrician, Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust gave this talk on behalf of Dr Derralyn Hughes, who was unfortunately unable to attend the meeting;
“One should start by pointing out some of the components of a normal cell- the nucleus, endoplasmic reticulum (ER), Golgi apparatus and lysosome.
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The session was facilitated by Dr Ashok Vellodi and attended by all the parents attending the conference. There were also two adult patients, as well as Sarah Long, who has Morquio’s (MPS IV, an LSD) disease;
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The Association is delighted to have 7 people running in the 2009 London Marathon. Five runners will take our Golden Bond places and the other two have secured ballot places and will run for the Gauchers Association.
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