Cerebrotendinous Xanthomatosis

Prof. Antonio FEDERICO, Specialist in Mental and Nervous Diseases, is Emeritus Professor of Neurology at University of Siena, Siena, Italy where he was full professor of Neurology, director of Dept. Neurological Sciences, of the Unit of Neurology and Neurometabolic Diseases , of the PhD programme in Clinical Neurosciences, of the Postgraduate School of Neurology and vice-Rector of the University. He was President of the Italian Society of Neurology, Chairman of the Scientific Committee of the European Academy of Neurology (EAN) and of the EAN Panel on Rare Neurologic Diseases. Actually he chairs the Specialist Group on Rare Neurologic Diseases of the World Federation of Neurology. He was Editor-in-chief of Neurological Sciences, Springer-Verlag Editor for more than 10 years; he is in the editorial board of many Journals and published more than 600 articles in the main international journals.

Dr Andrea E. DeBarber is a Research Associate Professor at Oregon Health & Science University (OHSU) Portland, Oregon, where she oversees the OHSU Sterol Analysis Laboratory which performs biochemical diagnostic testing for cerebrotendinous xanthomatosis (CTX). Dr DeBarber's research focuses on developing improved biochemical testing for rare genetic disorders of sterol and bile acid synthesis. Over the last decades, Dr DeBarber has identified multiple blood and urine biomarkers that are useful both for diagnosis and to monitor the efficacy of therapy for CTX. Her combination of expertise in bioanalytical techniques and deep research experience in CTX marks her as a distinguished scientist in the field. She has published 25 articles on CTX, a disorder which has been one of her main research topics for the last two decades. In addition, Dr DeBarber serves as Co-Chair of the Medical & Scientific Advisory Board for the CTX Alliance patient advocacy group and is leading a taskforce to nominate CTX for consideration for addition to the US Recommended Uniform Screening Panel of disorders screened for in newborns.

Prof. Tzipora C. Falik-Zaccai, MD, is a Full Professor of Medical Genetics, Metabolism, and Pediatrics at the Azrieli Faculty of Medicine, Bar-Ilan University, where she serves as Head of the Department of Genetics. She is the founding director and Director Emeritus of the Institute of Human Genetics at the Galilee Medical Center. In addition, Prof. Falik-Zaccai previously held the position of Vice Dean for Medical Research and was instrumental in establishing the MD-PhD program, which she led until recently, aimed at fostering excellence among outstanding students.

Dr. Huidekoper was trained as a pediatrician specialized in inherited metabolic diseases at the Amsterdam University Medical Center, Amsterdam, the Netherlands, where he also obtained his PhD on the subject 'In vivo kinetic studies in inborn errors of metabolism'. Since 2015 he is affiliated to the Center for Lysosomal and Metabolic Diseases at the Erasmus MC University Medical Center in Rotterdam, the Netherlands. In his current position he is treating and following children over the whole spectrum of inherited metabolic diseases. He has a special research interest in cerebrotendinous xanthomatosis (CTX) and classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) for which he is leading the clinical and research program in the Netherlands.

Robert Steiner, MD is clinical professor of Genetics and Metabolism at the University of Wisconsin School of Medicine and Public Health. He is Medical Director for Newborn Screening for Wisconsin's Department of Health Services. Nationally, he serves as Editor-in-Chief of Genetics in Medicine, an official journal of the American College of Medical Genetics and Genomics (ACMG); he also serves on the ACMG board of directors.