Welcome to the site "AUTOUR DU BPAN" (Around BPAN)
Who are we ?
The association ‘ Around BPAN ‘ was created on July 16th 2018. It’s open to everyone. It’s an association of families and carers linked to WDR45 gene. Its aim is to fight the disease linked to the WDR45 gene mutation.
The disease :
It’s a rare genetic neurodegenerativ disorder associated to a beta propeller protein, BPAN. It’s characterized by brain iron accumulation and belongs to the group of NBIA. As the gene mutation is on chromosome X, the disease affects more females than males.
Symptoms :
Patients can present more or less severe affections according to the disease expression. This mutation leads to delayed development generaly characterized by seizures (epilepsy) in early childhood, movement, learning and langage problems.
Between adolescence and adulthood people may begin to develop important muscle troubles (dystony, parkinsonism… ). In the course of evolution cognitiv decline can complete the clinical picture. Life threatening may result from complications that can occur. For the moment only symptomatic treatments are offered. One of the most important consequence is a progressiv loss of autonomy.
Prevalence :
There is less than one case out of 1 million (ophanet) but many individuals haven’t been diagnosed yet.
The gene was indeed discovered in 2012 and has only been sequenced since 2017 in France.
The association ‘ Around BPAN ‘ was created on July 16th 2018. It’s open to everyone. It’s an association of families and carers linked to WDR45 gene. Its aim is to fight the disease linked to the WDR45 gene mutation.
The disease :
It’s a rare genetic neurodegenerativ disorder associated to a beta propeller protein, BPAN. It’s characterized by brain iron accumulation and belongs to the group of NBIA. As the gene mutation is on chromosome X, the disease affects more females than males.
Symptoms :
Patients can present more or less severe affections according to the disease expression. This mutation leads to delayed development generaly characterized by seizures (epilepsy) in early childhood, movement, learning and langage problems.
Between adolescence and adulthood people may begin to develop important muscle troubles (dystony, parkinsonism… ). In the course of evolution cognitiv decline can complete the clinical picture. Life threatening may result from complications that can occur. For the moment only symptomatic treatments are offered. One of the most important consequence is a progressiv loss of autonomy.
Prevalence :
There is less than one case out of 1 million (ophanet) but many individuals haven’t been diagnosed yet.
The gene was indeed discovered in 2012 and has only been sequenced since 2017 in France.
Time is short
Let’s act together to let research go on and create further projects.
That’s why the association was created. We need you all.
Let’s act together to let research go on and create further projects.
That’s why the association was created. We need you all.
Special thanks to the students of the Roanne University Center for the development of this flyer. Thanks to Virginie, Said, Imrane & Matthias
News
19-03-27
- Official publication of our first call for projects for this
year. Thanks to the efforts and kindness of all, we can participate
this year in the funding of BPAN projects:
19-03-23
- Closing of our Leetchi kitty: A big thank you to all: Clara
P., Mélanie B., François B., Jensen S., Josianne S., Christrine S.
,Carole L., Erwan S., Jean François B., Marilyne A., Fernande A.,
Eric S., Isabelle B., Yann S., Jeanine L., Christine W., Clemence
T., Kélène & Lolo, Pierre B., Delphine S., Alexandra A., Bruno
F., Armande H., Mélanie L., Hervé R., Pierre et Yvette A., Kessica
S., Doris P., Amélie Mam's, Eric C., Adelaine P., Nadia K., Carole
S., Olivier K., Jean Luc M., Anne-Marie B., Christiane S., Gérard
M., Delphine et Pascal N., Dan Dan, Gaby P., Alain P., David B.,
Benjamin H., Carol S., Irina D., Marie P., Isabelle et Philippe B.,
Franck T., Véronique et Jean K., Stéphanie B., Cécile & Stéphane
N., Delphine S., Doris K., Christine J., Estelle L., Severine C.,
Dominique G., Gersende H., Anna U., Kris S., Les Charf, Nicolas B.,
Françoise et Gilbert H., Dominique S., Dominique R., Christelle et
Damien J., Celine S., Stéphanie C., Emmanuel A., Aurélien C.,
Deborah S., Sophie et Vincent P. & D., Jeanne P., Benoït E.,
Stéphanie A., Bérangère P., Fanny P., Chloé B. and Corinne T.
19-02-10
- Lio officially announces that she becomes our godmother and
supports us in our fight.
19-02-07 - Our medical committee is officially constituted. Discover it by clicking here.
19-01-30 - Our association officially becomes a member of Alliance maladies rares.
19-01-20 - Redesign of this site.
18-12-28 - The logo is changed with the addition of a boy to represent BPAN more generally. The name of the site is changed in favor of Around the BPAN. These changes are made to bring more families together. This association has always been open to everyone and has always worked to fight the disease. The name of the association will be changed at our next General Assembly on April 13, 2019.
19-02-07 - Our medical committee is officially constituted. Discover it by clicking here.
19-01-30 - Our association officially becomes a member of Alliance maladies rares.
19-01-20 - Redesign of this site.
18-12-28 - The logo is changed with the addition of a boy to represent BPAN more generally. The name of the site is changed in favor of Around the BPAN. These changes are made to bring more families together. This association has always been open to everyone and has always worked to fight the disease. The name of the association will be changed at our next General Assembly on April 13, 2019.
Coming events
Activities
Medical
Research support
The association aims to find treatments to improve the lives of patients and ideally to stop the disease.
It has a medical committee to evaluate the relevance of proposed research projects.
It has a medical committee to evaluate the relevance of proposed research projects.
Support for understanding the disease
GenIDA : for families where a person is affected by the disease. Please take 15 minutes to advance the understanding of the disease by health professionals..
Financial contributions
In order to allow the financing of research, the association benefits from various resources related to:
Events
They can raise money and raise awareness of the disease. Strong moments are present in these events and allow a group cohesion ...
Donations and patronage
The association relies on donations from individuals and companies ...
Information
Our association aims to inform families and the public about the disease:
For families
The care is necessary for the care of the patients and the administrative procedures very often fall of the course of the combatant ...
Press articles, television
The whole of the articles of press presenting the association and making known the disease.
Help
You want to help or be helped, join us!
This association is open to all! You are close to a person carrying this mutation, or you simply want to fight with us against this neurodeégénèrescence, you can engage as a member or simple volunteer ...
For more information on the different ways to help us, click here.
To receive a membership form accompanied by the statutes of the association, enter your email address below:
For more information on the different ways to help us, click here.
To receive a membership form accompanied by the statutes of the association, enter your email address below:
E-mail :
You can also download it directly here:
You just have to fill it out and send it back by mail, along with the membership fee. All of you have the power to make a difference, let's act together.
Around BPAN, it is:
2 and a half years of existence
Since July 16, 2018
Since July 16, 2018
65,000 euros of funded projects
14 BPAN families
Act together, with all our might
member of
member of
member of
Contact
You want to know more ? You can contact us by this form.
Civility :
Mrs
Miss
Mr.
Name :
Email :
I am :
A Particuliar
A Parent of a child with BPAN
A Professional, Researcher
A member of a similar association
Other
A Parent of a child with BPAN
A Professional, Researcher
A member of a similar association
Other
Message :
OUR PARTNERS
Autour du BPAN
French Association law 1901, recognized of general interest
OUR Coordinates
Autour du BPAN
1610, CHEMIN DES GRANGES
42155 OUCHES
FRANCE
Tel. : +33 (0)6 87 25 92 45
Siren Number 841 375 512
1610, CHEMIN DES GRANGES
42155 OUCHES
FRANCE
Tel. : +33 (0)6 87 25 92 45
Siren Number 841 375 512
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