Insights on FRT by its Board’s members (June 2012)

Professor Irene Leigh, President of the FRT’s Scientific Board and Member of its Genodermatoses Committee

Genodermatoses as an exemplar for the care of rare diseases

The development of technology platforms over the last 20 years has seen enormous strides in identifying the genetic mechanisms underlying monogenic and polygenic human diseases. The development of next generation sequencing now gives us the ability to identify disease genes from very rare diseases. This is giving rise to a new range of opportunities for the development of diagnostic reagents and potential treatments for these rare diseases. These treatments range from Bone marrow transplantation for Epidermolysis Bullosa, through cell therapy, ex vivo gene therapy and protein therapy to new drug discovery to identify new molecular entities which affect gene function. Dermatologists have been extremely careful documenters of the phenotype of rare genetic skin diseases, which has been illustrated by the excellent genotype-phenotype correlations being reported. However mutations in the same genes cause several diseases so we have some way to go before there is a molecular classification of skin disease.

An important aspect for patient care is the ability to share this expertise between both those specialising in genetic dermatology and those who see an occasional patient in general dermatological practice to ensure optimal diagnosis and treatment, and dissemination of knowledge about new treatment developments. There is also an imperative to share this with countries where care for such patients is still developing. The Rene Touraine Foundation has been operating the Genodermatoses in Mediterranean initiative to share clinical expertise and information around the Mediterranean regions. There are also European networks, such as EB net and Geneskin and National initiatives, such as the new Dermatology and Genetic Medicine (DGEM) in the UK which are exciting new projects. We are therefore able to link and development better care pathways and define Clinical Severity Indices for genodermatosis sufferers for an increasing number of patients. This will also help in new and future clinical trials which will hopefully provide some relief to the suffering of many patients.

Professor Irene Leigh holds the Chair of Cellular and Molecular Medicine at the University of Dundee, has a world class reputation in skin biology and disease and extensive research management experience in universities and the NHS. She directs the Cancer Research UK Skin Tumour Laboratory, holds an erc advanced investigator award and is clinical director of a new Wellcome trust funded Dermatology and Genetic Medicine centre. Professor Leigh is on multiple scientific and editorial advisory boards in Europe and held office in national and European dermatological research Societies and has remained involved in student teaching and activities, particularly in e-learning. She is also concurrently a research consultant to the International Prevention research Institute in Lyon. She is at present the President of the Rene Touraine Foundation Scientific Advisory Board having served on the Board for more than 5 years.

Professor Gerhard Tappeiner, Secretary of the FRT’s Scientific Board

FRT as a motor of international cooperation in dermatology

The „Fondation René Touraine“ has been created to help improve international cooperation in dermatology, both at the scientific and the clinical levels. Competitive grants for international exchanges are given, conferences are organised, both within the foundation itself and through cooperations with other European dermatological associations, and supranational networks are created.

The activities of the foundation are aimed at several different groups :

• Young researchers : to help them acquire new skills in competent laboratories and create a network to help them in der projects.
• Practicing physicians, notably dermatologists to provide them with a knowledge base on state of the art therapies. In this context both socially important (Psoriasis) and rare genetic diseases are addressed.
• Provide patients with an access to objective information on their condition to allow them to more competently interact with their physicians.

This is achieved through presently three actions :

• Psoriasis international network
• Genodermatosis network
• Dermatological therapy online, the latter to provide State of the Art information on dermatological therapy for health care professionals,as well as information for the general public and not least a contribution to the ongoing financing of the activities of the Foundation.

Professor Gerhard Tappeiner is, since 1982, Professor of Dermatology and Venereology in the Division of General Dermatology, Deptartment of Dermatology of the Medical University of Vienna and Allgemeines Krankenhaus der Stadt Wien.

Frédéric Bonté, representative of LVMH Recherche at FRT’s Founders College and Board of Administrators

Foundation René Touraine as a privileged place of collaboration between all the actors of progress in the field of dermatology

Fondation Rene Touraine is a unique place and an extremely fundamental vector of exchanges for various public and private actors who are interested in biology of the skin. Thanks to the variety of its actions, the complementarity of the disciplines gathered and its international open-mindedness, Fondation René Touraine is a meeting place which enables to federate actions, but also a genuine melting pot allowing the creation of new research programs, that are sources of progress.

Sharing seems to me the keyword for its actions and I will try to give you some examples.

• The scientific workshops organized by the Foundation enable to acquire but also to share knowledge between researchers, in a transversal way.
• The involvement and the partnership of the Foundation with the European Society of Dermatological Research enable it to be at the heart of relations between cellular, molecular biologists, clinicians implied in beauty care and dermatology research.
• Treating, curing, relieving pathologies are of course the Foundation’s original aim. One of its roles consists in associating the general public with knowledge advances by conveying prevention messages (for example about UV damages) towards the public, through the actors of the dermatology sector.
• The foundation is also open on dermatologists and patients via the Genodermatoses Network and Psoriasis International Network.

The Foundation also plays a part in a sharp knowledge of healthy skin in general, mirror and interface of our daily life. The beauty of the skin, its relationships with its environment are many key elements of our social life and is fundamental for the cosmetic industry.

All these things make us proud to take part - together with other founders - to its actions lead in the service of the common good.

Director of Scientific Communication of LVMH Recherche for 10 years, Frederic Bonté is also responsible for the search for new partnerships with international research centers. Having integrated the Research & Development center of the group LVMH (Moët Hennessy Louis Vuitton) in 1987, he directed research teams in cosmetic and started thanks to them the installation of tools and research programs on skin ageing, hydration, pigmentation, drug delivery, natural ingredients and the knowledge of the specificity of Asian skins… These programs gave rise to many patents, scientific publications and new products carrying innovation within the cosmetic brands of LVMH. Ph D in pharmaceutical sciences of the University Paris XI, he carried out his Ph D thesis on the physicochemistry of the interfaces at the Collège de France in the laboratory of Professor Pierre-Gilles de Gennes, Nobel Prize of Physics in 1991. Within the department of pharmacology of the Houston Medical school, he also worked on cells culture models and biocompatible polymerizable liposomes.