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: 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
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
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.
Mary Abdelwahab, Michael Potegal, Elsa Shapiro, Igor Nestrasil
Neurol Genet June 2017 vol. 3 no. 3 e158
Ellen Sidransky, Taminna Roshan, Grisel Lopez, Edythe Wiggs
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