Hope for CADASIL Presents Second International Workshop

October 1, 2013

It was in 1993 that Professors Marie Germaine Bousser and Elisabeth Tournier-Lasserve first identified a new disease, CADASIL, after an extensive study of 57 adult members of a French family. Within three years, the responsible gene (Notch 3) was identified. During the past twenty years, more than 1,000 CADASIL families have been identified worldwide and more than 1,000 scientific articles have been published on their experiences.

To celebrate the 20th anniversary of CADASIL, a workshop was held on September 19th and 20th, 2013, in Paris, France at the Foundation Singer Polignac in Paris. Specialists in the area of CADASIL, of other small artery diseases of the brain, of Notch 3, and of neurovascular coupling from around the world participated in an intense scientific workshop to review the past twenty years and discuss the future of CADASIL research. During opening remarks, Professor Bousser honored and recognized the members of the CADASIL French Association (President Jean-Luc Airiau and Secretary Chantal Neau) for attending the scientific workshop as well as CADASIL Together We Have Hope (Billie Duncan-Smith, Board Director & President.) Their symbolic presence was meaningful as both organizations were there in CADASIL’s infancy.

See the opening speech here. 

Members of the CADASIL French Association were involved in the first extensive study of CADASIL. Professor Bousser first met with a member of this French family in 1976, in a Paris hospital. A few years later, this man’s two children had similar symptoms. Professor Bousser’s interest was increased and she decided to investigate on their health situation and family. Cousins like Jean Luc and Chantal, as well as other relatives, were involved in this extensive study between 1986 and 1992. The discovery of CADASIL led to the formation of the CADASIL French Association. And it was in 1996, that Billie Duncan-Smith’s husband Steve had health problems, but nobody understood the origin of his symptoms. Billie sent more than 200 e-mails to medical professionals with her husband’s medical records for assistance. Professor Bousser called Billie in Texas and advised her it might be CADASIL. A CADASIL diagnosis was confirmed in 1997. Steve’s diagnosis was the catalyst which ultimately birthed CADASIL Together We Have Hope.

This stellar international workshop was made possible through the generosity of partnerships with: Assistance Publique – Hôpitaux de Paris; Hôpitaux Universitaires Lariboisière, Fernand-Widal; Centre Hospitalier Sainte Anne; DHU NeuroVasc Sorbonne Paris-Cité; Institut national de la santé et de la recherche médicale (INSERM); Université Paris Descartes; Sorbonne Paris-Cité; Paris Diderot, Votre Université; Fondation Leducq; and Fondation Singer-Polignac. The American Leducq Foundation granted funds in 2012 to build a transatlantic network that is dedicated to research on small vessel diseases of the brain. This network has boosted the studies on CADASIL, international collaborations, and helped in organizing this scientific workshop for medical professionals.

The CADASIL French Association and CADASIL Together We Have Hope sincerely appreciate the efforts of all medical professionals worldwide who are working to find a treatment or cure for CADASIL. A special thank you is extended to those who presented sessions or moderated discussions at this spectacular workshop.

• Marie Germaine Bousser – Consultant in the Lariboisière Hospital Neurology Department in Paris and Emeritus Professor at Université Paris-Diderot (France)
• Elisabeth Tournier-Lasserve – Professor of Medical Genetics at University Paris 7-Denis Diderot, Director of INSERM U740 Research Genetics of Vascular Disorders and of the Genetics Diagnostic Facility of Lariboisière Hospital (France)
• Hugues Chabriat – Professor of Neurology at University Paris VII-Denis Diderot and the Head of the Neurology Department at Hôpital Lariboisière within the Assistance Publique des Hôpitaux de Paris (France)
• Anne Joutel – Senior Research Officer, INSERM U740, Faculte de Medecine Lariboisière in Paris (France)
• Marco Düring – Resident at the Department of Neurology and Junior Group Leader at the Institute for Stroke and Dementia Research at Klinikum der Universität München (Germany)
• Bo Norrving – Professor of Neurology at Lund University (Sweden)
• Hannu Kalimo – Turku University Hospital and Professor at the University of Turku (Finland)
• Léonardo Pantoni – Staff Neurologist at the NEUROFARBA Department of the University of Florence and Professor at the School of Neurology at the University of Florence (Italy)
• Katharina Eikermann-Haerter – Principal Investigator at the Massachusetts General Hospital in the Department of Radiology (USA)
• Christof Haffner – Senior Scientist at the Institute for Stroke

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