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Genida, for the improvement of patient care!
FAMILIES
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Like 700 known genes involved in this group of diseases (ID: Intellectual Impairments and ASD: Autism Spectrum Disorders), the wdr45 gene has recently been identified, that is to say that BPAN disease is very poorly understood!

We, families, have the power to advance knowledge of BPAN disease among health professionals (doctors and researchers).

This is why our association supports this project.

By participating in the project, we can save precious years for those affected by the disease (children and adults). The greater the number of people participating in the project, the more relevant will be the data collected.


In a few words...

GENIDA(1) is the only participatory international database translated into several languages. Its aim is to collect medical information on the genetic forms of intellectual disability and autism. One such disease is BPAN disease linked to the wdr45 gene. Parents all over the world with one or more children affected by BPAN disease can complete a questionnaire (duration 1 hour) translated into several languages. The questions are simple and often multiple choice. This questionnaire can be completed in several times (you have the possibility to come back to the questionnaire when you wish). You just need to bring your health record (height, weight, etc.).

The objectives of the project are multiple:

- Provide essential medical knowledge for professionals and families, in order to:

o Improve and harmonize the care of our children
o Anticipate certain issues related to BPAN disease
o Find the best symptomatic treatments for BPAN disease (epilepsy, insomnia, movement disorders ...)

- Create a platform for professionals around the world (doctors and researchers) that allows patients to be recruited for ethically approved research or clinical studies.


- Give feedback to families affected by BPAN disease. Families will be able to anticipate, detect or manage problems related to the disease more easily.


All information on the project can be found on the site: https://genida.unistra.fr/ but you will also find information on their Facebook page or on their YouTube channel!

If you wish to register and complete the form, we invite you to create your account directly on the home page of the site https://genida.unistra.fr/register/. The registration notice is available in pdf format by clicking here.

Finally, if you have the slightest difficulty in completing the questionnaire or if you have any questions, do not hesitate to contact Ms. Pauline Burger, project manager, by email at burgerp@igbmc.fr

“Act together with all our strength”


(1) GENIDA: Genetics of Intellectual Disability and Autism spectrum disorders
The GenIDA project was initiated in 2014 by Jean-Louis Mandel at the Institute of Genetics and Molecular and Cellular Biology of Strasbourg (IGBMC). Its main objective is to collect and analyze longitudinal medical information on intellectual disabilities (ID) and autism spectrum disorders (ASD) of genetic origin.


M.Bina (medical delegate) - 27/12/20