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
Editors' picks of the month
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians
Atul Mehta , Nadia Belmatoug , Bruno Bembi , Patrick Deegan , Deborah Elstein , Özlem Göker-Alpan , Elena Lukina , Eugen Mengel , Kimitoshi Nakamura , Gregory M. Pastores , Jordi Pérez López , Ida Schwartz , Christine Serratrice , Jeffrey Szer , Ari Zimran , Maja Di Rocco , Zoya Panahloo , David J. Kuter , Derralynn HughesMolecular Genetics and Metabolism, Available online 4 August 2017
Comment by Jeff Szer
This paper was written after an iterative process with a group of international experts in Gaucher disease who responded to specific questions about patient numbers, diagnostic and treatment pathways and identification of problem points in the pathways. It is not surprising that many patients were...
Shahzeb Hassan , Ellen Sidransky , Nahid TayebiMolecular Genetics and Metabolism, Available online 1 August 2017
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...
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