The Blog

📢Introducing Valerie Chu, who will be conducting our Natural History Study for MCOPS12 Patients and their families!  We’re excited to have Valerie Chu, a Research Genetic Counsellor from the CHU Sainte-Justine Research Centre, on board! With her extensive background and passion for clinical research, Valerie brings a wealth of knowledge to our research team. 🔬 Background and Expertise: Valerie holds a Master’s degree in Genetic Counselling and has extensive research experience as a genetic counselling

Exciting news! We are thrilled to announce a collaboration with a fellow MCOPS12 patient family based in Australia who have started a non-profit organization, A Cure for Sienna to further support MCOPS12 patients and their families! Together, we are able to co-finance the natural history study for MCOPS12 patients! Thanks to their incredible fundraising efforts and the support of all of you, we are now able to move forward with this important study! Why is

Last Friday we had a great meeting bringing together MCOPS12 Patients and their Families with Prof. Krezel from IGBMC in Strasbourg and Prof. Michaud CHU Sainte-Justine Research Center in Montreal that we are currently collaborating with on a #drugrepurposing study and investigation of disease mechanisms associated with #MCOPS12 to discuss preliminary results and progress! Additionally, we discussed our next steps with the #NaturalHistoryStudy, highlighting the importance of conducting this study as there is simply not

🎉Happy #RareDiseaseDay everyone! Today we recognize the millions of people living with #rarediseases and their families, who face unique challenges every day. Rare diseases affect more than 300 million people globally, yet they often go undiagnosed and untreated due to a lack of awareness, research, and funding… Let’s work together so that this isn’t the future for patients with #MCOPS12 . MCOPS12 is an ultra-rare neurological disease that causes severe and progressive movement disorders, developmental

🙌We are happy to announce we are launching our next campaign! We are now able to take the next critical step in finding a therapy for #MCOPS12 patients! In collaboration with the CHU Sainte-Justine Research Centre in Montréal, Cure MCOPS12 will establish and co-finance a Natural History Study for MCOPS12 patients.  Natural history studies collect health information from patients over time to better understand diseases and evaluate how they progress. By collecting comprehensive medical data

Many #raredisease patients and their families face a multitude of obstacles due to various #healthinequities – from challenges accessing and acquiring necessary social and health services to receiving medicines and treatments.  In honor of #rarediseaseday we are highlighting some of the various health inequities that #MCOPS12 patients and their families have faced.  The Pell Family, who live in Austria with their son Simon, have faced many obstacles. One of the biggest issues has been all

🙌 We have an AMAZING announcement to make – we have officially REACHED our goal of 75K!! Words cannot express how THANKFUL we are for all of your support – from helping us spread awareness to making donations – THANK YOU! Each and Every One of You have played a part in making a difference in the lives of #MCOPS12 Patients worldwide! Now that we’ve reached 75K we can get the ball rolling and begin

🎶 On Our 12 Days of Christmas we have TWELVE wishes specific to #MCOPS12 Kids, Their Families, and Cure MCOPS12. We have kids that would LOVE to one day be able to do things that other kids can do… To SIT unassisted, to WALK, to have MORE Independence, to be able to make their own MARK on this world. We have families that want to be able to share their passions and hobbies with their

In just a little over a month we’ve managed to raise almost 65K!! 🙌 We are so VERY grateful to all of you who have supported us so far – Thank YOU! 💙 Our campaign for this proof of concept for the #ASO therapy will go until the end of January and we STILL NEED about 10K… Patients with MCOPS12 and their families face various challenges and difficulties EVERY SINGLE DAY due to the symptoms

Hey Everyone! We have some EXCITING news we’d like to share with you all! We have signed a contract with Everlum Bio, a Rare Disease Lab, that will design and then produce a shortlist of different Antisense Oligonucleotides (ASOs) that will initially be tested in a lab model consisting of Simon’s neurons! During this testing phase, they will determine which ASO is most effective in deactivating the defective gene that causes MCOPS12! BUT in order