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Rare Disease Day 2012

Rare_Disease_Day_2012


The Rare Disease Day 2012 will take place on 29 February, a rare day itself. This year, the theme is solidarity, and the official motto is "Rare but Strong Together." Rare Disease Day 2012 aims at promoting the collaboration and mutual support among patients and families, experts and health care providers, scientists, societies and countries to help advance research in the field of rare disease. Its main goal is to enhance the understanding of this public health priority and mobilize the community's support network.

A disease is defined as rare when it affects less than 1 in 2000 individuals in the general population. It is estimated that there are 6000 to 8000 rare diseases, and 80% of them have genetic origins. Currently, the total number of people affected by rare diseases in the EU is between 27 and 36 million. 

Rare eye diseases include a large number of ocular pathologies. Retinitis pigmentosa, the most common inherited retinal degeneration, affects approximately 1 in 3000-5000 individuals and is responsible for visual loss of 1.5 million people worldwide. In France, 30,000-40,000 people suffer from retinitis pigmentosa. It is estimated that eye abnormalities are present in one-third of the rare systemic diseases (e.g. Marfan's syndrome, neurofibromatosis, CHARGE syndrome...) which means that about 1800 syndromes involve eye disease as a component.

At the Vision Institute in Paris, more than 220 researchers and clinicians work together to better understand the mechanisms underlying rare eye diseases and to develop new therapeutic strategies for these currently untreatable diseases. The Center of Clinical Investigations (CIC) at the Centre Hospitalier National d'Ophtalmologie (CHNO) des Quinze-Vingts offers a platform for the National Reference Center of Rare Retinal Dystrophies. It is also part of the network of European ophthalmological clinical research sites (76 currently) dedicated to perform clinical research with the highest standards of quality. Extensive clinical phenotyping and studies on genotype/phenotype correlations in rare retinal diseases are within the Institute's core projects, together with pharmacological treatment, gene therapy and stem-cell therapy, and artificial retina. Currently, it is one of the two locations worldwide where a gene therapy trial for Stargardt disease, the most common form of juvenile macular degeneration (affecting 1 in 8000-10,000 individuals) is underway.

Since the late 90's, a development of policy towards rare diseases have been undertaken at national and international level. After the first adopted Community action programme on rare diseases including genetic diseases (1999-2003), a strategic approach for the EU to prevent and treat rare diseases is underway (Council Recommendation on an action in the field of rare diseases, 9th June 2009). In France, the second National Plan on Rare Diseases, 2011-2014, is in progress and a National Rare Diseases Foundation was recently created with a decree of The French Ministry for Higher Education and Research. The main purpose of the Foundation resides in promotion, federation and support of the fundamental and translational research in the field of rare diseases. The Foundation will be officially launched with a press conference that will take place in the Academy of Sciences, Paris, on February 29, 2012. On the same date, the First International Congress on Research of Rare and Orphan Diseases RE(ACT) Congress 2012 will be opened in Basel, Switzerland (29th February - 2nd March 2012) to offer a high quality setting for stimulating learning, exchange and networking.

In France, the following National Reference Centers on visual and auditory sensory diseases are designated within the context of a national policy regarding rare diseases and operate as expert centers for diagnosis and management of these diseases:

  • Reference Center of keratoconus (Coordinator: Prof. J. Colin, Bordeaux),
  • Reference Center of genetic eye diseases (Coordinator: Prof. H. Dollfus, Strasbourg),
  • Reference Center of rare eye diseases (Coordinator: Prof. J.-L. Dufier, Paris),
  • Reference Center in genetic sensory diseases (Coordinator: Prof. C. Hamel, Montpellier),
  • Reference Center of congenital and genetic deafness (Coordinator: Dr S. Marlin, Paris),
  • Reference Center of Rare Retinal Dystrophies (Quinze-Vingts National Ophthalmology Hospital and Creteil Hospital Ophthalmology Department; Coordinator: Prof. J.-A. Sahel, Paris).
Created Tuesday, 28 February 2012 Last modified Tuesday, 28 February 2012

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