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The CHAMP1 Foundation is an organization created for parents of children with developmental delay, hypotonia, cerebral palsy, autism, and epilepsy among others diagnosed as a result of a change in the CHAMP1 gene.
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CHAMP1 RESEARCH FOUNDATION-  FEBRUARY'S NEWSLETTER 
 TOMORROW IS RARE DISEASE DAY 2023

Tomorrow is Rare Disease Day 2023 - 28 February


Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.
Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse – but united in purpose.

Rare Disease Day is observed every year on 28 February (or 29 in leap years)—the rarest day of the year.

Rare Disease Day was set up and is coordinated by EURORDIS and 65+ national alliance patient organisation partners. Rare Disease Day provides an energy and focal point that enables rare diseases advocacy work to progress on the local, national and international levels.

We support the Rare Disease Day as is an important date for CHAMP1 community too!

More about Rare Disease Day 2023 here: https://www.rarediseaseday.org

How to participate and support? 

Tomorrow,  28th of February,  repost CHAMP1 Foundation's posts and tag @Champ1Research using the hastag: #RareDiseaseday2023 and also #CHAMP1Research. Post and tag/using the hastag is important to raise awareness for CHAMP1.Feel free to create a post sharing your CHAMP1ON/family story.

#RareDiseaseDay2023 #CHAMP1Research #CHAMP1ResearchFoundation

CHAMP1 MONTHLY MEETING - OPEN FOR FAMILIES
The CHAMP1 Monthly meeting will happen on 3/5 at 12:30 EST. 
Is a month meeting where we discuss what is going on on research, fundraising and next actions with the board members. 

Is a great  opportunity for families to engage more and understand how they can support the Foundation.

Link for the meeting: Join Zoom Meeting 

https://us02web.zoom.us/j/85008373404

If you would like a formal calendar invite please message us: jeff@champ1foundation.org or patricia@champ1foundation.org
CHAMP1 & RARE X - CALL FOR FAMILIES 

On March 11th, 1pm EST,  Stephanie Lanning (CHAMP1 Mom and part of the board) will run a call with Rare X team. It will be a great chance to tell a bit more about our partnership with Rare X and clarify any questions about how to use the portal and next steps.

We'll post the link for the meeting next week in our family group on Facebook, but if you also would like to receive an invite for it please email: stephanie@champ1foundation.org

More about Rare X and CHAMP1
 

RARE-X is a collaborative platform for global data sharing and analysis to accelerate treatments for rare disease. RARE-X equips patients to share their data with global researchers, clinicians, and drug developers.
 
CHAMP1 Research Foundation did a presentation together with Rare X in June/22,  on  Rare X CHAMP1 data collection program launch. If you missed  you can watch the recording below:


Watch it here: https://us02web.zoom.us/rec/share/Q5Mn50T5F3BqXAJB3YaW6s-azmPRvAoT7BU1U-ioatZuuuURP2gQWWoq7AId5VWR.gRge4ZWYVXY70A5Z?fbclid=IwAR2bJh-32MY9k1kuq9Or_8QpQ6HxXCItYQWPCWIrvv4fSc8KNRyAhfihzJ0
(passcode: iKer9%Q1)!

It was so informative and really explained how important data collection is… remember, it begins with US, the families! We are the future of CHAMP1 ⭐️

Also, to begin enrollment, please click https://champ1.rare-x.org/

For a quick guide on getting started: https://rare-x.org/wp-content/uploads/2022/05/RARE-X-QUICK-GUIDE-and-FAQ-05-02-22-1.pdf?fbclid=IwAR3NSx6lEdIMb_gKqJRZ4ibb1kD5T3f7fAqS-uAtQkaN0V1qBpmdkhAlzxc

FUNDRAISE AND NEWS
Italian local newspaper with Tommy's story and also raising awareness for CHAMP1. In Italy there are only 3 children diagnosed with CHAMP1.
Our brave Italian CHAMP1ON Tommy was in the local media raising awareness for CHAMP1, as there are only 3 cases in Italy. The news highlighted the parent's campaign on Go Fund Me to raise funds for CHAMP1 and the work that the Italian researcher Dr. Stefano Berto, is doing in the USA in his neuro lab. Bravo, Tommy, family and Dr. Stefano.

Link for the campaign: https://www.gofundme.com/f/help-tommy-to-find-a-cure?utm_campaign=p_cf%20share-flow-1&utm_medium=copy_link&utm_source=customer&fbclid=IwAR1N-Pvl_Pz2AvDI_A5oheuTs-hDen4TwXTPzOJxh-UGnZ_xLEWDQBmCWCk
RESEARCH UPDATES
Dr Stefano and his lab are working hard to get us more answers about CHAMP1.
Dr. Stefano Berto (Assistant Professor + Director Medical University of South Carolina College of Medicine Neurogenomic lab) shared some progress on his research about CHAMP1:

“We did a test for an antibody that binds CHAMP1. These are pluripotent human stem cells, and the staining shows high expression of CHAMP1, which makes sense because of its importance in mitosis (cell division). This is the first basic biology step. Now we must understand whether CHAMP1 is expressed everywhere or in specific cell types during neurogenesis (generation of neurons).

This is a basic biology simple analysis, but it answers one of my hypotheses: is CHAMP1 expressed in highly proliferative cells that resemble embryogenesis cells? Yes, it is.”


You can watch Dr Stefano's presentation at the family conference last  October here:
 https://youtu.be/pfBjnwmwubc
FEBRUARY's BIRTHDAYS
Check all our CHAMP1ON's birthdays on Instagram: @CHAMP1Research 

HOW TO SUPPORT?

Paypal Donation Page - CHAMP1 families 

CHAMP1 families are using this platform to fundraise, check now which team you would like to support. 

Donate here

CHAMP1 shop

Check our shop, we have t-shirts and other products to support the Foundation. 

Check our shop >>

If you are a researcher 

Please contact our Foundation and we'll connect you with all research groups involved with CHAMP1 initiatives. 

Contact us >>
 
If you're a CHAMP1's parent

There are loads of ways to support the Foundation and its initiatives, from participating in studies to engaging with fundraising. 

Chat with a CHAMP1 parent >>
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CHAMP1 Research Foundation
Our mission is to improve the lives of those affected by CHAMP1 disorders through clinical research, effective treatments, public awareness, early detection, family support and patient advocacy.

Our mailing address is:
info@champ1foundation.org

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CHAMP1 Research Foundation · 1367 Whitewood Ave · Spring Hill, FL 34609-6165 · USA

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