In this issue of the Gauchers News you will find a report on The House of Lords Dinner, see an update on the National Bone Study and on going clinical trials into Gaucher disease and read a message from Susan Lewis who retired as the Association's Executive Director earlier this year. 

Welcome to the December 2005 edition of Gauchers News, writes Jeremy Manuel, Chairman of the Gauchers Association.
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My retirement as Executive Director from the Gauchers Association has been made a pleasurable landmark by many of you, writes Susan Lewis.
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This year’s Family Day was an extra special event to welcome old friends and new members and celebrate the work that Susan Lewis has made to the Association and Gaucher disease. Sunday 11th September saw 50 families and professionals from as far as Israel and Denmark come together in Slough at Don and Maureen Tendell’s house to enjoy a fun afternoon of good food, a bouncy castle and great company.
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Dr Pram Mistry was appointed Chief of Pediatric Hepatology and Gastroenterology at Yale University on 1 October 2005. He will continue to see patients with Gauchers disease at his dedicated Gauchers Centre in New Haven and visit his outreach clinic in Arizona amongst his many other duties.
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Elin Davies-Pope the Clinical Trial Nurse at Great Ormond Street Hospital, reports on her work with the European Task Force for the Management of Neuronopathic Gauchers Disease.
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Julie walked down the aisle aged 24 as a beautiful bride with the aid of a stick covered in fl owers. She was diagnosed with Gauchers disease when she was fi ve. This is her story:
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During his whistle stop tour of Europe Professor Henry J Mankin MD, Former Chief of Orthopaedic Service, Massachusetts General Hospital and Professor of Orthopaedics in Harvard Medical School visited the Royal Free Hospital, London to present a lecture on “Orthopaedic Aspects of Gaucher Disease”.
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Amicus Therapeutics, a biopharmaceutical company based in New Jersey USA, is developing a series of drugs called small molecule pharmacological chaperones to treat human genetic diseases and is planning to initiate clinical studies of a small molecule chaperone called AT2101 for Gaucher disease in the first six months of 2006.
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During a recent meeting of the European Study Group of Lysosomal Disorders in Oslo during September 2005, Prof Ari Zimran from the Gaucher Clinic at Shaare Zedek Medical Center presented the six months results from the Phase I/II clinical trial of a new enzyme preparation for patients with Type I Gaucher disease produced by Transkaryotic Therapeutics (TKT) which is now owned by Shire Pharmaceuticals.
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On the 8th July 2005 Careology Ltd was formed by the management team of Genzyme Homecare when they acquired the Homecare company from Genzyme Therapeutics.
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Two booklets published by Great Ormond Street to help families understand neuronopathic Gauchers disease have recently been revised.
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At the invitation of Lord Stone of Blackheath 130 guests spent the evening of 20 June 2005 at the House of Lords drinking champagne, catching up with old friends and watching a boat race on the terrace of the Houses of Parliament. The fundraising dinner was organised by Sharon and Alan Rosen.
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Prof Timothy Cox (Department of Medicine in the University of Cambridge at Addenbrooke’s Hospital) responded on behalf of the guests of the Association by thanking Lord Stone for the splendid hospitality offered at the House of Lords an august historical institution still at the heart of British politics.
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‘Scientists at the Weizmann Institute in Israel, together with an American team based at the Scripps Research Institute in California, have succeeded for the fi rst time to link the specifi c structural genetic mutations in Gaucher disease to the resulting mechanical dysfunction of the enzyme glucocerebrosidase’, says Prof Anthony Futerman (pictured below).
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Pauline Campbell, Paediatric Audiologist at Derriford Hospital, Plymouth has been involved in testing children diagnosed with Neuronopathic Gauchers disease since 1998. Here she reports on a new project at Plymouth University to investigate central auditory processing in neuronopathic Gaucher Disease (nGD).
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‘The National Bone Study, which is funded by the Gauchers Association, involves all four Centres dealing with Gauchers disease at the Royal Free Hospital, Royal Manchester Children’s Hospital, Great Ormond Street Hospital and Addenbrooke’s Hospital, ‘writes Prof Timothy Cox.
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The National Research Study on the Bone Complications in Gaucher Disease is funded by the Gauchers Association and has recently been reinforced by the two year appointment of Dr. Elena Pavlova MD, PhD, writes Prof Timothy Cox.
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100 delegates including families, physicians, patients with Gauchers disease, Ministry of Health personnel and patient representatives from 10 European Gaucher Associations met in Moscow for the first meeting of the Russian Patient Association on 15 – 17 May 2005. Tanya Collin-Histed and Jeremy Manuel from the UK Gauchers Association attended the meeting. Tanya Collin-Histed reports:
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Her Royal Highness Princess Sana Asem hosted a charity Dinner at Grand Hayatt Hotel, Amman on 11 June 2005 for the Jordanian Gaucher Association (JGA). Her Royal Highness assured the Association that His Majesty King Abdullah II is concerned and interested to provide all care needed for those Jordanians with Gaucher disease and congratulated the young association and its executive committe on their work in supporting patients and their families and raising awareness of the disease in doctors.
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The Romanian Gauchers Association held a patient meeting and symposium on Gaucher disease in Bucharest on the weekend of the 30 June to 2 July.
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