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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.

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

04.1 Jeff Szer Welcome to Resource Centre

Editors' picks of the month: Spotlight on GD3

Improved response with ERT

Comment by Jeff Szer
These papers highlight the fact that many patients with type 3 disease will respond and have significantly improved clinical status with ERT and in particular reminds us that some pf these patients will present and be diagnosed in adult life.

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

Amal El-Beshlawy, Anna Tylki-Szymanska,  Ashok Vellodi, Nadia Belmatoug, Gregory A. Grabowski, Edwin H. Kolodny, Julie L. Batista,  Gerald F. Cox, Pramod K. Mistry, et al.

Molecular Genetics and Metabolism, In Press, Accepted Manuscript, Available online 6 December 2016, Available online 6 December 2016

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Type 3 Gaucher disease, diagnostic in adulthood

Charles Detollenaere, Monia Benghergbia, Anaïs Brassier, Thierry Billette de Villemeur, Daniel Amsallem, Marc Berger, Jérôme Stirnemann, Nadia Belmatoug, Christian Rose, et al.

Molecular Genetics and Metabolism Reports, December 2017, Volume 13, Pages 1-2

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Genetics play a role in disease manifestations in GD

Comment by Ellen Sidransky
This paper broadens the spectrum of manifestations in neuronopathic Gaucher disease. You will see we also posted a letter in response stating that we did not observe this phenotype among North American children with type 3 Gaucher disease, even those with the same GBA1 genotype, suggesting that ethnic background and genetic modifiers likely contribute to disease manifestations in Gaucher disease.

Previously unrecognized behavioural phenotype in Gaucher disease type 3

Mary Abdelwahab, Michael Potegal, Elsa Shapiro, Igor Nestrasil

Neurol Genet June 2017 vol. 3 no. 3 e158

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Replies to Previously unrecognized behavioral phenotype in Gaucher disease type 3

Ellen Sidransky, Taminna Roshan, Grisel Lopez, Edythe Wiggs

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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.


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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.