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Support points 

Medical institutions
Rare Diseases in France
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National Rare Diseases Plan
Health sector

This February 25, 2025, the government launched at the Ministry of Health the National Rare Diseases Plan 2025-2030 (PNMR4) entitled "From the territories to Europe". This plan is based on 4 main axes and 26 objectives, with the ambition of guaranteeing each patient and each family a rapid diagnosis, appropriate care and access to treatments:

• AXIS 1 - IMPROVING THE LIFE AND CARE PATHWAY

• AXIS 2 - FACILITATE AND ACCELERATE DIAGNOSIS

• AXIS 3 - PROMOTING ACCESS TO TREATMENTS FOR RARE DISEASES

• AXIS 4 - DEVELOPING DATABASES AND BIOBANKS

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  • FILIÈRES DE SANTÉ MALADIES RARES

Cliquez sur l'image pour accéder au site 

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The AnDDI-Rares network is the national rare disease network dedicated to diseases with abnormal somatic and cognitive development. It brings together all the French players involved in the diagnosis, monitoring, care, research and training of these diseases.

 

The AnDDI-Rares healthcare network has created "Pr Folk's blog - living with a rare genetic disease" to disseminate quality information aimed primarily at patients and families who come for consultations at the various national sites.

The editorial line is mainly focused on developmental anomalies with or without intellectual disability of rare causes. The articles published here are intended to help you with your medical care, as well as to guide you in your day-to-day life by providing practical information. Thanks to this blog, you'll have access to a wealth of information on genetics, research and rare diseases...

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Website dedicated to support and information on the TRANSITION FROM PEDIATRIC SERVICES AND FOLLOW-UP TO ADULT SERVICES.

It's an upheaval in personal care for patients and their families. Click on the image to obtain the summary sheet produced for MYT1L patients.

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Reference and Competence Centers

 

  • Rouen University Hospital : a reference center for developmental anomalies and malformation syndromes, with practitioners involved in the diagnosis and management of MYT1L syndrome

Dr AM Guerrot, Dr J. Coursimault and Dr F. Lecoquierre accompany us.

Article : Clinical and molecular study carried out by the Rouen team, the results of which were published in the journal Human Genetics in November 2021.

 

 

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