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Advances in Gaucher Disease 13 4. El-Beshlawy A, Tylki-Szymanska A, Vellodi A, et al. 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. Mol Genet Metab. 2017 Jan - Feb;120(1-2):47-56. 5. Wong K, Sidransky E, Verma A, et al. Neuropathology provides clues to the pathophysiology of Gaucher Disease. Mol Genetics Metab. 2004; 82: 192-207. 6. Lloyd-Evans E, Pelled D, Riebeling C, et al. Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms. J Biol Chem. 2003 Jun 27;278(26):23594-9. 7. Sidransky E. Gaucher disease: complexity in a “simple” disorder. Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15. 8. Zigdon H, Savidor A, Levin Y, et al. Identification of a biomarker in cerebrospinal fluid in neuronopathic forms of Gaucher disease. PLoS ONE. March 16, 2015;1-11. 9. Kramer G, Wegdam W, Donker-Koopman W, et al. Elevation of glycoprotein non-metastatic melanoma protein B in type 1 Gaucher disease patients and mouse models. FEBS Open Bio. 2016; 6:902-13. 10. Abdelwahab M, Blankenship D, Schiffmann R. Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt. Neurol Genet. 2016; 2:1-5. 11. El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK. 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. Mol Genet Metab. 2017 Jan - Feb;120(1-2):47-56. 12. Schiffman R. Gaucher Disease: neuronopathic forms. Molecular and Genetic Basis of Neurologic and Psychiatric Disease. 2015; Elsevier; chapter 26:301-310. 13. Tajima A, Yokoi T, Ariga M, et al. Clinical and genetic study of Japanese patients with type 3 Gaucher disease. Mol Genet Metab. 2009; 97:272- 277. 14. Choy FY, Zhang W, Shi HP, et al. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Blood Cells Mol Dis. 2007; 38:287-293. 15. Goker-Alpan O, Wiggs EA, Eblan MJ, et al. Cognitive outcome in treated patients with chronic neuronopathic Gaucher Disease. J Pediatr. 2008; 153:89-94. 16. Benko W, Ries M, Wiggs EA, et al. The saccadic and neurological deficits in type 3 Gaucher Disease. PLoS One. 2011 ;6:1-9. 17. Klein AD, Ferreira N-S, Ben-Dor S, et al. Identifciation of modifier genes in a mouse model of Gaucher Disease. Cell Reports. 2016; 166:2546-2553. 18. Cie lak M, Wojtczak A, Komoszy ski M. Role of the purinergic signaling in epilepsy. Pharmacol Rep. 2017 Feb;69(1):130-138. 19. Bezerra GA, Dobrovetsky E, Seitova A, Fedosyuk S, Dhe-Paganon S, Gruber K. Structure of human dipeptidyl peptidase 10 (DPPY): a modulator of neuronal Kv4 channels. Sci Rep. 2015; 5:8769. 20. Turner TN, Sharma K, Oh EC, et al. Loss of δ-catenin function in severe autism. Nature 2015; 520(7545):51-6. 21. Hu C, Chen W, Myers SJ, Yuan H, Traynelis SF. Human GRIN2B variants in neurodevelopmental disorders. J Pharmacol Sci. 2016; 132(2):115-121. 22. Lo SM, Choi M, Liu J, et al. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood. 2012; 119(20): 4731-40. AGD therefore be remiss if I did not mention the immense and unforgettable contributions of our late Medical Advisory Board members, Dr. Roscoe Brady and Dr. John Barranger to the entire Gaucher disease community and specifically to the NGF. Giants such as these can never be replaced, but their memory and accomplishments as humanistic physician scientists serve all of us as a continuing source of inspiration and as a model that we can only strive to emulate. On behalf of the Medical Advisory Board, I am also thrilled to welcome Dr. Saul Yanovich, the new NGF Medical Liaison. Dr. Yanovich is a professor of medicine at the University of Maryland School of Medicine. He has practiced medicine since 1969 and is board-certified in internal medicine, hematology and medical oncology. Dr. Yanovich has served as director of several bone marrow transplantation programs at prominent medical institutions and is currently director emeritus of the University of Maryland Medical Center’s Blood and Marrow Transplantation Program. I am looking forward to working closely with him as we nurture and watch Advances in Gaucher Disease grow and mature. In this first issue, we are happy to present a paper by Dr. Pramod Mistry discussing application of personalized medicine to the management of patients with Gaucher disease, a review article about emerging data and Gaucher disease type 3 by Dr. Raphael Schiffmann, an update in question and answer format on current Gaucher disease research at the National Institutes of Health by Dr. Ellen Sidransky, and a description of the organization and function of the Gaucher Disease Center of Excellence at Yale University School of Medicine. We are particularly proud to include an essay entitled “Journey with Gaucher Disease” written by Moreena Howlett-Mason, the mother of Mario, a child with Gaucher disease type 3 who passed away in 2010 at 15 years of age. The story of Moreena and Mario is a moving and fitting accompaniment to the scientific papers in this volume as it highlights how much yet remains to be accomplished for us to help patients and families with neuronopathic Gaucher disease. It also reminds us that in medicine, we practitioners are sometimes regarded as surrogate godfathers and godmothers. However, it’s never just business-it’s always personal! I encourage you to please provide me with feedback and constructive criticism. Also, please visit the National Gaucher Foundation website, http://www.gaucherdisease. org, to discover NGF’s multidimensional programs, that include a broad spectrum of services and provide a wealth of information on patient advocacy, empowerment and available resources. Neal J. Weinreb, MD Co-Editor-in-Chief Editor’s Memo (continued from inside front cover)


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