GAUCHER DISEASE

There are 200 different pages at this Web Site for the use of patients with Gaucher's Disease and their doctors.

Most patients have Type 1 disease. But if you are looking for information on Type 2 or Type 3 we now have a special home page for Neuronopathic Gaucher Disease. However Type 3 patients should also read information on the main pages which is equally applicable to them.

If you want to let us have your comments and suggestions send us a message.

Opinions expressed here are not necessarily those of the Gauchers Association.

All the pages on this site are also available in Spanish. Some pages have also been translated into German and Italian and this is shown in the contents below. We are also starting to translate the site into Russian. This site looks best if viewed with Internet Explorer 5 or 6.

If you need an understandable but comprehensive introduction to the subject read Living with Gaucher Disease first. This is also available in Italian and Bulgarian as well as English, Spanish and Russian.

If you can't find what you want, try using the search facility.

GAUCHERS NEWS DECEMBER 2005

Gauchers News May 2005

New Enzyme Trial Update
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. (December 2005).

Update on National Bone Study in Gauchers Disease
The National Bone Study is funded by the Gauchers Association. (December 2005).

Orthopaedic Aspects of Gauchers Disease
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. (December 2005).

Future Developments for Gauchers Disease
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. (December 2005).

Julie's story: "You can't feel sorry for yourself"
Julie walked down the aisle aged 24 as a beautiful bride with the aid of a stick covered in flowers. She was diagnosed with Gaucher disease when she was five. (December 2005).

Mistry Appointment
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 Gaucher Centre in New Haven and visit his outreach clinic in Arizona amongst his many other duties. (December 2005).

Genetic Defect Linked to Structural Defect
Scientists at the Weizmann Institute in Israel, together with an American team based at the Scripps Research Institute in California, have succeeded for the first time to link the specific structural genetic mutations in Gaucher disease to the resulting mechanical dysfunction of the enzyme glucocerebrosidase. (December 2005).

Russian Patient Association meeting
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. (December 2005).

Romanian Patients Meeting 2005
(December 2005).

Princess Sana Asem hosts the Jordanian Gaucher Association Dinner
(December 2005).

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