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.
Editors' picks of the month
Edward R.B. McCabeMolecular Genetics and Metabolism, September 2017, Volume 122, Issue 1-2, Pages 1-3
Comment by Ellen Sidransky
One of the major challenges in the study of Mendelian disorders is the vast clinical heterogeneity encountered even among individuals with the same DNA mutations. This led to the concept that Mendelian disorders are actually complex traits with one primary gene, but other genes or...
Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials
Deborah Elstein , Björn Mellgard , Quinn Dinh , Lan Lan , Yongchang Qiu , Claudia Cozma , Sabrina Eichler , Tobias Böttcher , Ari ZimranMolecular Genetics and Metabolism, September 2017, Volume 122, Issue 1-2, Pages 113-120
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.
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.
Dr Ellen Sidransky, Rare Haematology Resource Centre editor, suggests a greater knowledge of rare diseases may help us better understand more common diseases
Welcome! From the Editors
The Rare Haematology Resource Centre is intended for healthcare professionals only.