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Welcome by Dr. Ellen Sidransky
Clinical Geneticist and Gaucher Investigator from Bethesda, Maryland, USA
Journal editorial board member, Molecular Genetics and Metabolism
Understanding unique problems
This is a really pivotal time for research in the field of Gaucher disease. Our understanding of lysosomal storage diseases (LSDs) has broadened significantly since the approval of enzyme therapy more than 25 years ago, and in many ways, Gaucher disease has become a beacon for other LSDs. Currently, our appreciation of a link with Parkinsonism, has opened new avenues to explore These are indeed exciting times, yet there is still so much to understand.
Gaucher disease is intriguing with its broad range of symptoms that make every patient’s problem appear unique in some way. Adding to the complexity is that patients with the same genetic mutations can experience very different symptoms and patients with similar symptoms can have very different genetic mutations.
The Rare Haematology Resource Centre provides current research and commentary on this ever expanding and challenging field and I look forward to selecting the best articles to keep you informed and providing comment on the developments of note from a research genetics perspective.