• NATIONAL PLAN FOR RARE DISEASES 4 (PNMR4)

On 25 February 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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• RARE DISEASE HEALTH NETWORKS

Click on the image to visit the website  

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• Our health network : AnDDI-Rares

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.

 

• Prof. Folk's blog

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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• Inter-network website : Transition Maladies Rares Infos

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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