CHAMP1 - Our Rare Worldwide Family

By Stacey, CHAMP1, United Kingdom, February 5, 2019

CHAMP1 Research - Our CHAMP community

There are currently only 51 people in the world diagnosed with CHAMP1 gene mutation.  The CHAMP1 Foundation is an organisation created for parents of children with developmental delay, hypotonia, cerebral palsy, autism, and epilepsy among many other diagnoses a result of a change in the CHAMP1 gene.

Our mission is to improve the lives of those affected by CHAMP1  through clinical research, effective treatments, public awareness, early detection, family support and patient advocacy

Our Foundation's goal it to coordinate and collaborate with the global scientific community to understand the function of the CHAMP1 gene in order to develop effective treatments and a potential cure for CHAMP1 disorders.

We aim to increase the medical community and public awareness of the complexity and potential severity of CHAMP1 disorders.

This video was put together to celebrate some of our CHAMPs.  We want the world to see how happy they are!

Share this

Share your photos, videos and your experiences!

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.
X

Share your story




(To find the english name and more information about your disease, click here). Start typing the English name of your disease. Please choose from the suggestions that appear. If your disease is undiagnosed please write ‘undiagnosed’, or if you would like to list multiple diseases, please type in a list separated by commas.