The Advisory Comittee

What is The Advisory Committee?

A multidisciplinary campaign advisory committee was convened to provide advice on the educational content of the campaign to ensure it is accurate, relevant, and resonates with healthcare professionals unfamiliar with Niemann-Pick type C disease (NPC). All members of the Think Again. Think NPC advisory committee are experts in the field of NPC.

Advisory Committee Members:

Dr Bruno Bembi

Regional Coordinator Centre for Rare Diseases of the Friuli Venezia Giulia Region, Academic Hospital Santa Maria della Misericordia, Udine, Italy

Dr Bruno Bembi is Director of the Regional Coordination Centre for Rare Diseases of the Friuli Venezia Giulia Region and Scientific Research Coordinator at the Academic Hospital Santa Maria della Misericordia, Udine, Italy. He has been involved in and has directed clinical and research programs in the field of lysosomal disorders since 1985.

Dr Paul Gissen

Senior Clinical Research Associate and Honorary Consultant, University College London, UK

Dr Paul Gissen is a Consultant in Inherited Metabolic Diseases (IMDs) at Great Ormond Street Hospital for Children, London, UK and a Wellcome Trust Senior Research Fellow at the University College London. Having obtained his medical degree from the University of Glasgow, Dr Gissen completed his Paediatrics training at Manchester, Sheffield and Birmingham Children’s hospitals; including subspecialty training in IMDs. Dr Gissen completed a PhD in human molecular genetics in Professor Eamonn Maher’s group at Birmingham University. His research achievements so far include the identification of more then 10 novel gene mutations that are responsible for inherited paediatric disorders. Dr Gissen’s research group is investigating molecular and cellular basis of intracellular trafficking disorders and developing novel methods for diagnosis and treatment of IMDs. His clinical interest is in Intracellular Trafficking Disorders such as Arthrogryposis, Renal Dysfunction and Cholestasis syndrome, Niemann-Pick type C disease and Neuronal Ceroid Lipofuscinosis.

Jackie Imrie

Nurse Practitioner, Manchester, UK

Jackie Imrie qualified as a paediatric nurse in 1981, holds a degree in biochemistry and genetics and has also studied for a MSc in Genetic Counselling. Jackie has worked in many therapy areas including general paediatrics, oncology, bone marrow transplantation, cystic fibrosis and neonatal intensive care. In 1993, she began work in the Willink Biochemical Genetics Unit at the Royal Manchester Children’s Hospital, to assist in clinics for children and adults with metabolic disorders. In 1999, she became the first UK Support Nurse for families with Niemann-Pick disease. Jackie also founded the Niemann-Pick national database and helpline to support families throughout the country. Jackie retired from full time work for the NPDG (UK) at the end of 2012 and now provides consultancy work in the field of Niemann-Pick Diseases. Hans Klünemann

Institut of Neuropsychiatry, Regensburg, Germany

Since February 2013, Dr Hans Klünemann has been Director of INP3 (the Institut of Neuropsychiatry, Neuropsychology and Neurophysiology), Regensburg, Germany. Prior to this he was Director of the Memory Disorders Clinic at the University of Regensburg School of Medicine. He studied medicine at the Medical School in Freiburg, Germany, and at the Albert Einstein College of Medicine, New York, USA. Dr Klünemann performed his Neurology Residency at the University of Vermont, USA, where he was promoted to Chief Resident and awarded a Clinical Neurophysiology Fellowship. Dr Klünemann is actively involved in research in neurological diseases, including Niemann-Pick type C disease, and has authored numerous publications in this field.

Dr Frédéric Sedel

Neuro-metabolic Unit, Pitié Salpêtrière Hospital, Paris, France

Dr Frédéric Sedel is a neurologist who has worked for the last 10 years in Pitié-Salpêtrière Hospital. After completing his PhD, he studied Inborn Errors of Metabolism (IEM) with Prof. Saudubray at the Necker Children’s Hospital, Paris. Dr Sedel has founded and coordinated the Neurometabolic Department of Pitié-Salpêtrière dedicated to treating adults with IEM. Dr Sedel has been part of the Reference Centre for Lysosomal Diseases, Vice President of the French Society for IEM, and President of the SSIEM Adult Metabolic Group. He is currently Chairman and CEO of Medday Pharmaceuticals, a biotech company developing central nervous system drugs that target brain metabolism.

"We've got a great team of physicians who are absolute specialists in Niemann-Pick Type C Disease (NP-C) to help us identify how we can engage healthcare professionals across the world."