Prof. Horowitz graduated from the Weizmann Institute. Following a postdoctoral fellowship at MIT, Massachusetts, USA, she joined the Weizmann Institute.

In 1985 she initiated studies aiming at understanding the molecular mechanisms underlying Gaucher disease.

In 1990 she moved to Tel Aviv University where she continues her studies on the association between Gaucher disease and Parkinson's disease and misfolding in lysosomal diseases, using Drosophila as an animal model.

Paolo Barbanti began his career in biotechnology as a researcher focusing on experimental cancer therapies and completed his postgraduate studies in the field of immunology and advanced therapies. He also received an MBA from SDA Bocconi School of Management.

With his background, in both the scientific and business aspects of life sciences, he served as a management consultant for biotech and pharmaceutical companies covering all aspects of their business. Paolo is Founder and CEO of Pharma & Biotech Advisors SRL, a management consulting firm focused on life sciences, med-tech and high tech.

Paolo is an expert consultant for life sciences and biomedical issues for the Commercial and Investment Office of Embassy of Israel in Italy. Besides is Mentor for Fulbright Best Program an initiative set up by the U.S. Embassy in Italy aimed at enhancing entrepreneurship, economic dynamism in Italy and stimulating new and innovative business ventures. Moreover, he is also an Adjunct Professor at Università Vita-Salute San Raffaele Milano (School of Medicine) and Università Carlo CattaneoLIUC (School of Economics).

“I believe in the power of Ideas, Innovation, and Future, the ability to look beyond the laboratory results, from the Bench to Bedside”.

Dr Rozenfeld holds a doctoral degree in Biochemist and a PhD degree in the field of immunology, both from the National University of La Plata (UNLP), Argentina. At her postdoctoral work she began to work on lysosomal disorders.

She works at the Institute for Study of Immunology and pathophysiology (IIFP), UNLP-CONICET, La Plata, Argentina.

She is an Independent Researcher of CONICET, the National Council of Research in Argentina. She is the director of DIEL, a lab service for the diagnosis of lysosomal disorders for patients from Argentina and other Latin-American countries. She is a Professor of Immunology at UNLP. Her current research interests focus on the pathophysiology of the immune system in lysosomal disorders.

Since 2003, she has consulted, conducted research, provided diagnosis, written scientific papers, and lectured in the area of lysosomal disorders.

Priya S. Kishnani, MD. C.L. and Su Chen Professor of Pediatrics.Department of Pediatrics, Division of Medical Genetics. Duke University Medical Center, Durham, North Carolina.

Priya S. Kishnani, MD, is chief of the Division of Medical Genetics, Department of Pediatrics, at Duke University Medical Center in Durham, North Carolina, and director of its YT and Alice Chen Center for Genomic Research. She holds certification from the American Board of Medical Genetics and the American Board of Biochemical Genetics. She began her medical education in Bombay, India, followed by a residency and 2 fellowship programs at Duke University. Dr. Kishnani’s primary focus has been the translation of laboratory science into the clinical arena.

She has long-standing research and clinical interest in Pompe disease and was the lead investigator for the pivotal trials of Pompe disease and responsible for the clinical translation from the bench, which led to FDA approval of Myozyme™ (2006)/Lumizyme™ (2010) as the first treatments for Pompe disease. Dr. Kishnani continues to investigate the natural history of Pompe disease, uncovering several long-term complications, among them speech and swallowing dysfunction, cardiac arrhythmias, vascular involvement, sleep and gait disturbances, CNS involvement, and small fiber neuropathy. She and the Duke team played an integral role in the nomination and approval for the addition of Pompe disease to the RUSP (Recommended Uniform Screening Panel) for newborn screening in the United States.

Raphael Schiffmann, M.D., M.H.Sc. was the Director of the Institute of Metabolic Disease and is a Clinical Professor at the Texas A&M University Medical School. He completed his medical degree at the University of Liege in Belgium and holds a Master’s degree in Health Sciences in Clinical Research from Duke University. Dr. Schiffmann was a clinical fellow and then the lead investigator at the Developmental and Metabolic Neurology Branch, National Institute of Neurological Disease and Stroke, National Institutes of Health, in Bethesda, Maryland between 1991 and 2007.

The main objective of Dr. Schiffmann’s research is to study the mechanisms of a number of rare diseases and help develop novel therapies for them. His research primarily focuses on neurometabolic diseases and in particular lysosomal storage diseases and leukodystrophies. He investigated the natural history, pathogenesis, and treatment of Fabry disease, including pivotal studies that lead to the approval of enzyme replacement therapy for this disorder in 45 countries and the pharmacological chaperone migalastat that is now approved in Europe, Japan, Canada and in the USA. He also investigated the pathogenesis of the neurological and neuropathological aspects of neuronopathic Gaucher disease and its response to enzyme replacement therapy and substance reduction therapy. His studies on the neurogenetics of mucolipidosis type IV confirmed the clinical and biochemical homogeneity of this disease that provided an important step toward identifying the mucolipidosis IV gene. He described three novel leukodystrophy syndromes including Childhood Ataxia with Central Nervous System Hypomyelination (CACH; vanishing white matter disease; eIF2B related disease), 4H Syndrome, and identified the etiology of Cree Leukoencephalopathy. He also performed a randomized controlled trial in adult polyglucosan body disease (APBD). Dr. Schiffmann has authored 266 peer-reviewed publications, 24 reviews, and book chapters.

Position: Associate Professor of Pediatrics, The Hebrew University, Jerusalem, Israel

Affiliation: Gaucher Unit, Shaare Zedek Medical Center, affiliated with Hebrew University Medical School, Jerusalem, Israel

Working/Research Focus: I completed my fellowship in Pediatric Hematology/Oncology and Pediatric Thrombosis and Hemostasis at The Hospital for Sick Children, Toronto, Canada in 2002. I have worked 15 years in The Pediatric Hematology/Oncology at Hadassah Medical Center, Jerusalem, Israel, and been the Head of the Pediatric Hematology Center. In September 2017 I joined Prof. Ari Zimran as a senior physician at the Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel, and since January 2019, I have been the Director of the Gaucher Unit; the largest Gaucher Unit worldwide (over than 850 patients over 30 years). In 2012, I gained an MSc in Clinical Epidemiology, and currently, I am doing my PhD at the Hebrew University-Hadassah Braun School of Public Health. My Ph.D. thesis is developing an algorithm for the diagnosis of Gaucher disease using real-world data and aiming to shorten the time to diagnosis as well as to avoid misdiagnosis.  I have over 100 peer-reviewed publications.

My research in Gaucher disease focuses on digital health, patient-reported outcome measures, type IIIC disease, and bleeding issues. 

Tanya Collin-Histed became involved in the Gaucher world in 1996 when her daughter Maddie was diagnosed with Type 3 Gaucher disease. A year later she became a Trustee for the UK Gauchers Association and started to support patients and their families with Type II and III Gaucher Disease through family conferences, information booklets, and proving friendship and emotional support.

In 2001 Tanya received the Alan Gordon Memorial Award in recognition for her work with NeuronopathicGaucher disease and her support to families.

In 2003 Tanya became the national development manager for the UK Niemann-Pick Disease Group, the charity's first-ever employee. However, in 2005 she took up the post of Executive Director of the Gauchers Association UK and was in this post, as Chief Executive until July 2018 when she resigned to take on the role of Chief Executive Officer for the International Gaucher Alliance (IGA) on a full-time basis. Tanya took up the position as a Trustee of the UK Gauchers Association in October 2018.

Tanya has been the part-time CEO of the IGA since 2008 and underpins all of the activities of the IGA from their UK office. Tanya’s main responsibilities within the IGA are supporting patients globally to access treatment through compassionate programs in partnership with Pharmaceutical Companies, supporting evolving patient groups in countries across the globe, and the development/governance of a Global patient-led nGDregsitry.

In December 2017 Tanya became a Trustee of Medics4RareDiseases. Tanya first became involved in Students for Rare Diseases in 2013 as a member of the UK LSD Patient Collaborative and has supported the project in its development to become Medics4RareDiseases. Tanya resigned from M4RD in 2020 to be able to focus more on her work as a Trustee for the UK Gauchers Association.

Outside of work, Tanya’s time is spent preparing for her next triathlon, with a half ironman event in the bag in August 2018 she is contemplating a full Ironman in 2021. So swimming, running, and cycling are where you will find her, oh and she also likes a good book.

Uma Ramaswami is a Consultant in Inherited Metabolic Disorders based at the Lysosomal Disorders Unit (LSDU) at the Royal Free Hospital, London. 

Uma has a special interest in clinical research relating to understanding the natural history and disease progression of metabolic disorders and is involved in a number of clinical trials in LSDs. Uma has over 70 peer-reviewed publications. Uma is the Clinical Lead for the LSDU at Royal Free Hospital, one of 8 National designated centers in the UK for the management of patients with LSDs. 

She is actively involved in transition services from childhood to adulthood and leading best practice patient care, improved monitoring using phone applications, telephone consultations, and improved data collation for auditing best practice. Uma is also the Clinical Lead for both the UK Paediatric Familial Hypercholesterolaemia and European Atherosclerosis Society Paediatric FH Registers.