Sensgene is hosting provisionnally the ERN-EYE project
Rare Eye Diseases are the leading cause of visual impairment and blindness for children and young adults in Europe. More than 900 Rare Eye Diseases are listed in the portal for rare diseases and orphan drugs (ORPHANET). These include more prevalent diseases such as retinitis pigmentosa which has an estimated prevalence of 1 in 5 000, as well as some very rare entities described only once or twice in medical literature.
ERN EYE addresses these conditions in four thematic groups: rare diseases of the retina, neuro-ophthalmology rare diseases, paediatric ophthalmology rare iseases, and rare anterior segment conditions.
In addition, six transversal working groups are addressing issues common to the four main themes. Additional working groups focus on specific areas, including genetic testing, registries, research, education, communication and patients.
NETWORK COORDINATOR :
Professor Hélène Dollfus
Hôpitaux Universitaires de Strasbourg,
European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe. They aim to tackle complex or rare diseases and conditions that require highly specialised treatment and concentrated knowledge and resources. Health systems in the European Union aim to provide high-quality, cost-effective care. This is particularly difficult with rare or low-prevalence complex diseases or conditions. Between 5.000 and 8.000 rare diseases affect the daily lives of around 30 million people in the EU.