In This Issue 4 Personalized Approach to Management of GaucherDisease 8 The Spectrum of Gaucher Disease Type 3: Identifying Clinical Syndromes, Phenotypic Variability, and Clues to Neuropathology 14 A Gaucher Disease Update from the Medical Genetics Branch, Introducing Advances in Gaucher Disease, a New Peer-Reviewed Resource of Clinical Information On behalf of the National Gaucher Foundation (NGF) and my colleagues on the Medical Advisory Board, we are happy to present the inaugural copy of Advances in Gaucher Disease, a peer-reviewed medical journal devoted exclusively to diagnostic and treatment information about this hereditary, clinically heterogeneous disorder. The mission of this journal is to focus attention on and evaluate basic, translational and clinical research directly or indirectly related to Gaucher disease and its pathophysiology. Initially, we plan on publishing semiannually but hope to later expand to four issues a year. We are interested in publishing traditional regular length and brief investigational manuscripts, and consensus, evidence-based management recommendations and guidelines. We encourage contributions from our international colleagues. We also wish to offer a forum to review, discuss, debate and challenge both new ideas and concepts as well as those considered to be accepted doctrine. In a series of “best practices” articles, we will explore various approaches to creating and sustaining Gaucher disease centers of excellence. We invite submission of novel, interesting case reports and, in the future, we will seek “ask the experts” and “how I treat” articles. We also plan to offer opportunities for pharmacologists, genetic counsellors, study coordinators and patients to submit contributions that reflect their unique perspectives. In keeping with the goals of the NGF, we hope this journal will help generate intellectual excitement that will encourage young investigators and physicians to become interested in Gaucher disease and other lysosomal disorders and improve the quality and continuity of care that we provide so that we can continue to meet the lifelong comprehensive needs of our patients and families. No new enterprise can arise unless built on a strong foundation. I would Editorial Mission The purpose of Advances in Gaucher Disease is to serve as a comprehensive resource of information for physicians regarding advances in the diagnosis and treatment of Gaucher disease, its clinical syndromes, pathophysiology, and genetic characteristics. Content of the journal focuses on the impact of translational research in the disciplines and subspecialties most closely associated with Gaucher Disease, its diagnosis, and treatment. As the official medical journal of the National Gaucher Foundation, Advances in Gaucher Disease presents relevant and timely information on patient advocacy issues and patient empowerment. Advances in Gaucher Disease is circulated to selected orthopedists, hematologists, gastroenterologists, geneticists, pediatricians and related allied health care practitioners. Medical Advisory Board Co-Editor-in-Chief Pramod K. Mistry, MD, PhD, FRCP Prof. of Pediatrics & Internal Medicine Chief, Department of Pediatric GI/Hepatology Yale University School of Medicine PO Box 208064 333 Cedar Street; LMP 1080 New Haven, CT 06520 Phone: (203) 785-3412 or (203) 785-3497 Fax: (203) 785-7273 Email: pramod.mistry@yale.edu Co-Editor-in-Chief Neal Weinreb, MD, FACP Regional Coordinator and Chair of the International Collaborative Gaucher Group University of Miami UHealth Sylvester Cancer Center Coral Springs 8170 Royal Palm Blvd. Coral Springs, FL 33065 Phone: (954) 755-1904 Fax: (954) 755-1910 Email: boneal@winning.com Ellen Sidransky, MD Chief, Section on Molecular Neurogenetics MGB, National Human Genome Research Institute National Institutes of Health Bld 35 Room 1E–623 35 Convent Drive, MSC 3708 Bethesda, MD 20894-3708 Phone: (301) 451-0901 or (301) 496-0373 Fax: (301) 402-6438 Email: sidranse@mail.nih.gov Patient Advocacy Amy Blum National Gaucher Foundation National Gaucher Foundation 5410 Edson Lane #220 Rockville, MD 20852 800-504-3189 Publishing Staff Stu Chapman, Executive Editor Jenny Chapman, Director, Business Development Gloria Catalano, Production Director Michael McClain, Design Director Business and Administration Office DataMedica 515 E. 88th Street, Suite 1L New York, N Y 10128 Editorial Office DataMedica 2557 Tulip St. Sarasota, FL 34239 Tel: (516) 356-5006 © Copyright 2017 DataMedica. All rights reserved. None of the contents may be reproduced without the permission of the publisher. About the Cover Light micrograph showing Gaucher Disease cell, peripheral blood. Oil immersion technique. Magnification 600X when printed at 10 cm. Copyright © 2017 Photo Researchers, Inc. All Rights Reserved. Credit: Garry DeLong / Science Source. Inset is of Philippe Gaucher, dermatologist who first described signs of (continued on page 13) what is now called Gaucher Disease. NHGRI, NIH 18 The National Gaucher Disease Treatment Center Sets High Benchmark for Quality Care and Research 21 A Journey With Gaucher Disease Editor’s Memo Volume 1, Number 1 Spring 2017 Neal J. Weinreb, MD
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