In this edition of Gauchers News you can read about a number of research projects that the Association has funded, hear reports of our six London Marathon runners and learn who recieved the first Susan Lewis Memorial Award.

Dear Friends,

Welcome to the July 2009 edition of Gauchers News. This edition is a mixture of stories and reports. It brings a personal story of a parent of Gaucher child and sadly reports of the deaths of young Patrick Zaki and of Gaucher campaigners Carmen Martell and Mark Freedman. It also reports on the marvellous and much needed fundraising efforts of members and friends including groups of students and our magnificent marathon runners.
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Every year, Serbian weekly magazine ‘Blic Zena’ searches for their Woman of the Year. This is a public competition, and readers from all over the country are invited to submit their own personal stories to show their strengths, experiences, determination and bravery in the face of extreme hardship. The purpose of the competition was to find the most extraordinary woman in Serbia. The Woman of the Year for 2008 was Kristina Vasic. This is her story (translated from Serbian) –
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Funds raised by two families with children with neuronopathic Gaucher disease have been awarded to support work being undertaken at Kings College to complete a study on Zavesca uptake into the brain. Dr David Begley from Kings College, London reports on this study –
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Prof Ari Zimran and Dr Debbie Elstein of the Shaare Zedek Medical Centre in Jerusalem, Israel, have embarked on an Investigator-initiated pilot study for type 1 Gaucher disease. Here, Dr Debbie Elstein reports on the study –
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The Gauchers Association has awarded a grant from funds raised by the Eleanor Lily Foundation to The Royal Free Hospital in London to purchase a batch of viral vectors for use in their gene therapy research in Type II Gaucher disease. Simon Waddington, a Senior Research Fellow in the Department of Haematology at the Royal Free Hospital in London describes the work being carried out –
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The Gauchers Association would like to thank the Fathers of Kings Cliffe who generously donated £1,500 to the Association in memory of the late Tom Downes. The Fathers of Kings Cliffe are a group of dedicated men who met in their local village pub in 2005 and the only thing they had in common was that we were all fathers of children who attended the Kings Cliffe Endowed School in Peterborough and all wanted to raise money for charity.
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Tanya Collin-Histed, Executive Director of the Gauchers Association reports on the 3rd Annual B4B meeting that took place in Frankfurt on the 6th – 8th March 2009 –
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Alan Milligan, Clinical Research Nurse reports –

The Lysosomal Storage Disorder (LSD) unit at the Royal Free is currently participating in three clinical trials of new treatments for Gaucher disease (with two others waiting to open later this year).
  Patients are now moving over into the long-term extension part of Shire Human Genetic Therapy’s clinical trial of GA-GCB (Velaglucerase™), a new intravenous enzyme. In another study, other patients are receiving Amicus Therapeutics’ AT2101 (Plicera™) – an oral tablet which is described as a ‘chaperone therapy’.
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Lynn Coleman, Trainer Assessor from Wigan and Leigh College reports on the fundraising efforts of students who raised money for the Association –
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Over 35,000 people completed this year’s London Marathon. Of these, Sarah, Kate, Nathan, Alistair, Dan and Jake pounded the streets of London on Sunday 26 April for the benefit of the Gauchers Association. Unfortunately, Liz Begley was unable to compete due to a knee injury, but was there amongst 750,000 supporters along the 26.2-mile course. Below, our runners describe their experiences of the day.
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Dr Ashok Vellodi, Paediatric Metabolic Consultant from Great Ormond Street Hospital reports on a potential new therapy being given ‘off licence’ to Type III Gaucher patients at Great Ormond Street Hospital in London –
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Ohrid, Macedonia, 22-24 MAY 2009

Dr Ashok Vellodi, Paediatric Metabolic Consultant at Great Ormond Street Hospital, was invited to travel to Macedonia to make a presentation on Gaucher disease in Children. He reports on the day’s events –
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Dr Chris Hendriksz, Consultant in Clinical Inherited Metabolic Disorders at Birmingham Children’s Hospital reports on the new Clinical Study Group (CSG) for Inherited Metabolic Disorders (IMD) recently set-up in collaboration with the UK LSD Patient Collaboration Group –
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Dr Ashok Vellodi, Paediatric Metabolic Consultant at Great Ormond Street Hospital reports on the revised guidelines for treating patients with Type III Gaucher disease –
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Patrick Zaki, son of Naser and Edyta and twin brother of Elya, died suddenly in his sleep on 29 January 2009 aged just four. Patrick had Type III Gaucher disease.
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Dr. Raul Chertkoff, the Medical Director of Protalix Biotherapeutics in Carmiel, Israel, reports on some sad news for the Gaucher community –
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Writes Jeremy Manuel:
I am sorry to report that Mark Freedman, Chairman of the Canadian Gauchers Association died on 9 May in Toronto. Mark was 55 and was a highly respected property lawyer who together with his wife Judy founded the National Gaucher Foundation of Canada.
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We are now inviting nominations for the 6th Alan Gordon Memorial Award to be sent to Tanya Collin-Histed, Executive Director of the Gauchers Association, by 30th September 2009. We will announce the recipient of the Award of £1,000 in the next Gauchers News in December, and on our website.
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The Susan Lewis Memorial Award was established in 2007. Its purpose is to provide bursaries to doctors and other healthcare professionals from developing countries to allow them to travel to the UK Centres of Excellence. At the centres, they will undertake mentoring and educational programmes in the treatment and management of Gaucher disease.
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Earlier this year, the Gauchers Association was approached by Genzyme Therapeutics to ask if a member would go along to their staff conference to talk about living with Gaucher disease. Emily Wallrock, a Type I patient, went to the meeting on 3 February 2009. The purpose was to make Genzyme employees understand what life was like from a patient’s perspective. Emily reports –
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Dr Peter Liese MEP at the European Parliament in Brussels between 8 and 10 February. Dr Liese is patron of the German Gaucher Association and a German Member of the European Parliament. Tanya Collin-Histed reports –
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Orphanet www.orpha.net is a European portal for rare diseases and orphan drugs, created to bring together information and resources in one place.
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The Association relies on its members, their families and their friends who generously support the association’s work through subscriptions, donations and the organisation of fundraising events (examples of which can be seen on pages 5, 7, 8 and 9 of this newsletter). We are extremely grateful for this support and would like to remind you that we have various fundraising resources available to help you, such as t-shirts, balloons, stickers, posters and leaflets.
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My name is Sarah Allard, I’m 37 and I’d like to take this opportunity to introduce myself. I’ve just joined the Gauchers Association as an administration assistant and I’m going to be working alongside Tanya in the office in Dursley for three days a week.
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Christmas planning seems to start earlier each year, but following on from the  success of our 2008 Christmas card sale that raised a significant amount of money for the Gauchers Association, we are pleased to be able to present the 2009 Christmas card, perfect for family, friends and just about everyone you know!
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