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Rare Haematology Resource Centre

Research to advance your knowledge

The Rare Haematology Resource Centre highlights the development of therapies for diseases in rare haematology. In addition, it focuses on the actual research to advance your knowledge. We will offer content comprising of a combination of selected articles from peer-reviewed journals, patient case reports and KOL interviews. This freely available resource center is editorially independent and hosted by the Journal Molecular Genetics and Metabolism. New content will be posted monthly on this platform. Please subscribe to our e-Alert to ensure that you stay up to date with recent scientific developments.

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Dr Ellen Sidransky, Rare Haematology Resource Centre editor, suggests a greater knowledge of rare diseases may help us better understand more common diseases

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Prof Jeff Szer, Rare Haematology Resource Centre editor, explains why knowledge about rare diseases is so important

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Editors' picks of the month

Latest Articles

Welcome! From the Editors

Jeff Szer

Disease Group Lead – non-malignant haematology Victorian Comprehensive Cancer Centre


Improving therapeutic outcomes

Rare diseases like Gaucher disease can be very challenging to diagnose and treat. Further understanding of lysosomal storage diseases will help overcome these challenges for improvement in therapy and therapeutic outcomes for our patients.

The Rare Haematology Resource Centre aims to improve this knowledge and help overcome these challenges by providing the latest and most reliable evidence-based information on rare haematological diseases like Gaucher disease, highlighting the significance of early detection and diagnosis and sharing key symptoms and cues to consider Gaucher disease as a differential diagnosis for haematological presentations.

I look forward to selecting the articles that are making an impact in this field and providing comment on the research to watch at the key haematology congresses this year from a clinical haematology perspective.

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.

The Rare Haematology Resource Centre is intended for healthcare professionals only.


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MGM competition winner

Congratulations to Julie Crawford of Sir Charles Gairdner Hospital, Perth, WA, for registering on the Rare Haematology Resource Centre in July. Julie wins a years’ subscription to our host journal, Molecular Genetics & Metabolism. Congratulations Julie!

Expert interviews from EHA Congress 2017, June 22-25, Madrid.

The Rare Haematology Resource Centre is funded by Sanofi Genzyme and developed by Elsevier. Sanofi Genzyme has no editorial control over the content of this Resource Centre. The Resource Centre and all content therein has been subject to an independent editorial review. The content expressed are those of the individual experts and the editorial board governed by Elsevier and do not necessarily express the view of Sanofi Genzyme.