Fostering Research on Rare Diseases
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Invited Speakers

Prof. Ségolène AYME

Ségolène Aymé is a medical geneticist, director of research at the French Medical Research Council (INSERM). She is the executive manager of the INSERM department dedicated to information on rare diseases in Paris. This service established in 1997 the European database of rare diseases and orphan drugs called Orphanet (, currently funded by the French Ministry of health, the INSERM and the European commission (DG Public Health and DG Research). She was the founder and the first president (1997 to 1999) of the International Federation of Human Genetics Societies. She is the current chairperson of the Public and Professional Policy Committee of the European Society of Human Genetics which is releasing recommendations and guidelines ( and the leader of the Rare Diseases Task Force established by the European Commission, DG Public Health and Consumers’ protection.
Dr. Catherine BERENS
DG Research - RTD-F2, European commission, Brussels

Dr. Catherine Berens was trained as a pharmacist and obtained her PhD in Pharmaceutical Sciences from the University of Louvain in Belgium. After having worked for the European Directorate for the Quality of Medicines (European Pharmacopoeia, Council of Europe, Strasbourg), she joined the European Commission in Brussels in 2002. She has since then been the Scientific Officer in charge of Rare Diseases in the Major Diseases Unit of the Health Directorate, Directorate General for Research.
Dr. Erica DAINA
Institute for Pharmacological Research “Mario Negri”, Italy

Dr. Erica Daina is the head of the Information Center for Rare Diseases. The Centre is a member of the Regional Network on Rare Diseases of Lombardy (Italy) and is situated at the Clinical Research Center for Rare Diseases “Aldo e Cele Dacco” (Mario Negri Institute for Pharmacological Research) - one of the oldest European facilities, dedicated entirely on the rare diseases promotion and research. Currently, Dr. Erica Daina is deeply involved in the research of Takayasu’s Arteritis, Alport’s syndrome, Hemolytic Uremic Syndrome/Thrombotic Thrombocytopenic Purpura, Fabry’s Disease and other rare diseases.
Dr. Marlene E. HAFFNER
Director, Office of Orphan Products Development, FDA, USA

Marlene E. Haffner has served as Director, FDA Office of Orphan Products Development for the last 18 years and as such has made a major imprint on orphan drug development throughout the US and the world. A physician with training in Internal Medicine, Hematology and Public Health, she received her MD from the George Washington University School of Medicine and an MPH form the Johns Hopkins School of Hygiene and Public Health. Throughout her professional career she has been passionate about serving the underserved – working in a sickle cell clinic in New York City to running the health program for the Navajo Indians in New Mexico, Arizona, and Utah, and now with her responsibilities in the Office of Orphan Product Development. She is proud of the successes the Orphan Drug Law has produced with more than 280 products approved in the US; and orphan rare disease programs extant in the EU, Japan, Australia, Taiwan, South Korea, Singapore and more.
Mrs. Christel NOURISSIER
President of Prader-Willi (France) and Secretary General of EURORDIS

Mother of Amelie, a 26 year old young woman, born with Prader Willi syndrome. Background in law and political studies, worked previously at the French Research Ministry, and lived 14 years in the USA, Canada, the Middle East and India. Christel Nourissier volunteered for the Ontario Prader Willi syndrome association when Amelie’s rare disease was diagnosed in Canada in 1993, established Prader Willi France in 1996, then participated to the creation of Alliance Maladies Rares in 2000. Today the French Rare Diseases Alliance brings together 154 patient groups. Since 2004, she has worked for the French National Plan for rare diseases. She was elected at the Board of Directors of EURORDIS in 2000, representing the French rare Diseases Alliance and Prader-Willi France. In 2003, she became Secretary General of EURORDIS. She has been actively involved in all EURORDIS European projects,. She coordinated two European Conferences on rare diseases: in 2003 in Paris, and in 2005 in Luxembourg.
Dr. Domenica TARUSCIO
Director, National Centre for Rare Diseases, Italy

Dr. Domenica Taruscio is the director of the Italian National Center Rare Diseases and responsible of the Italian National Registry Rare Diseases. She is also Member of the Committee on Orphan Medicinal Products (COMP) at the European Medicines Agency (EMEA) and member of the Task Force on Rare Diseases (DG – SANCO). Dr. Taruscio is scientific responsible at many national and international organizations in the area of rare diseases.
Prof. Josep Torrent-Farnell
Member of the Committee for Orphan Medicinal Products, European Medicines Agency

Prof. Josep Torrent-Farnell is a professor of Clinical Pharmacology and Therapeutics at the Autonomous University of Barcelona (Universitat Autònoma de Barcelona). He joined the EMEA in 1995 as Principal Scientific Administrator and from 1996 to 1998, he was Head of the New Chemical Substances Sector at the EMEA. In 1998, Prof. Torrent-Farnell became co-ordinator Director for the creation of the Spanish Medicines Agency, and Executive Director of the Spanish Medicines Agency in 1999. He was elected Chairperson of the Committee for Orphan Medicinal Products (COMP) in May 2000 and he was re-elected, as a Chairperson, in May 2003. Since April 2006, he is member of the COMP, nominated by Spain. Since November 2000 is Director General of the Advanced Centre of Services and Training for Health and Life Sciences, Doctor Robert Foundation (UAB).


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