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.
Welcome! From the Editors
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.
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.
Elma Aflaki, Wendy Westbroek, Ellen Sidransky
Neuron, Volume 93, Issue 4, February 2017, Pages 737 - 746
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
Molecular Genetics and Metabolism, In Press, Accepted Manuscript, Available online 6 December 2016, Available online 6 December 2016
Robert J. Desnick MD, PhD, Norman W. Barton MD, PhD, Scott Furbish PhD, Gregory A. Grabowski MD, Stefan Karlsson MD, PhD, Edwin H. Kolodny MD, Jeffrey A. Medin PhD, Gary J. Murray PhD, Pramod K. Mistry MD, PhD, Marc C. Patterson MD, Raphael Schiffmann MD, MHSc, Neal J Weinreb MD
Molecular Genetics and Metabolism, In Press, Corrected Proof, Available online 12 November 2016, Available online 12 November 2016
Gregory A. Grabowski, Chester Whitley
Molecular Genetics and Metabolism, In Press, Corrected Proof, Available online 29 November 2016, Available online 29 November 2016