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.
Angela Mercuri, Piero Farruggia, Fabio Timeus, Laura Lombardi, Daniela Onofrillo, Maria Caterina Putti, Marta Pillon, Maria Elena Cantarini, Paola Corti, Gloria Tridello, Massimiliano De Bortoli, Anna Pegoraro, Simone Cesaro
Blood Cells, Molecules, and Diseases, May 2017, Pages 45 - 50
Comment by Jeff Szer
This paper describes a small series of an ultra-rare acquired clonal but non-malignant disorder PNH, in the paediatric population. It points out the differences in diagnostic delay between patients with classical (overtly haemolytic) PNH and those in whom a PNH clone was identified in the course of workup of a patient with another bone marrow disorder (such as aplastic anaemia). The data presented are useful and additional to those provided by the global PNH registry in which this Italian group has not participated. This paper should be considered along with the recent paper by Urbano-Ispizua A et al (Different clinical characteristics of paroxysmal nocturnal hemoglobinuria in pediatric and adult patients. Haematologica March 2017 102: e76-e79) in which the characteristics of 99 children were compared with over 2000 adult patients in that registry and found to have significantly different disease characteristics to adults. Both of these papers remind us that children are not just small adults.
Transformation in Pre-treatment Manifestations of Gaucher Disease Type 1 during Two Decades of Alglucerase/Imiglucerase Enzyme Replacement Therapy in the International Collaborative Gaucher Group (ICGG) Registry
Mistry PK, Batista JL, Andersson HC, Balwani M, Burrow TA, Charrow J, Kaplan P, Khan A, Kishnani PS, Kolodny EH, Rosenbloom B, Scott CR, Weinreb N.Abstract This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients...
Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients
Drelichman G, Fernández Escobar N, Basack N, Aversa L, Larroude MS et al.Abstract Patients with Gaucher type 1 (GD1) throughout Argentina were enrolled in the Argentine bone project to evaluate bone disease...
Glucocerebrosidase mutations and neuropsychiatric phenotypes in Parkinson's disease and Lewy body dementias: Review and meta-analyses
Creese B, Bell E, Johar I, Francis P, Ballard C, Aarsland D.Abstract Heterozygous mutations in glucocerebrosidase gene (GBA) are a major genetic risk factor for Parkinson's disease (PD) and dementia with...
Lulu Kang, Xia Zhan, Jun Ye, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Huiwen Zhang
Blood Cells, Molecules, and Diseases, In Press, Corrected Proof, Available online 3 April 2017, Available online 3 April 2017