The Blog

📢Introducing Ivana, a dedicated volunteer at Cure MCOPS12 who also works as a Business Development Project Manager at a pharmaceutical company! 🔬 Background and Expertise: Ivana holds an Engineering Master’s Degree in Human Nutrition/Food Technology and a University Specialist Degree in Drug Development. With an impressive career spanning 12 years in the pharmaceutical industry, Ivana has gained extensive expertise in various aspects of drug development. 💙 Reasons for Support: Ivana’s decision to support Cure MCOPS12

🌟 Patient Spotlight: Troy’s Incredible Progress! 🌟 We are thrilled to share an exciting update on Troy, one of our #MCOPS12 Warriors! Troy recently completed a 3-week intensive therapy program with the renowned @NAPA Center in Chicago. He has been working tirelessly for 2-3 hours a day on physical therapy, Dynamic Movement Intervention (DMI), and occupational therapy sessions. We are delighted to announce that he has achieved some incredible milestones during his time there! Troy

📢Introducing Kathi Carl, a dedicated volunteer at Cure MCOPS12 who also works as a project manager! 🔬 Background and Expertise: Kathi Carl is a professional chemist who successfully completed her PhD thesis in inorganic chemistry at the University of Jena. With over 15 years of experience in the pharmaceutical industry, Kathi has specialized in the development of inhalation products. 💙Reasons for Support: Kathi’s decision to support Cure MCOPS12 was deeply influenced by the inspiring story

🙌Exciting News! Prof. Michaud and his colleagues have released a groundbreaking scientific article on #MCOPS12, shedding light on novel variants of the RARB gene mutation and their impact on disease symptoms. It is the most comprehensive study on MCOPS12 to date. Medical data of 52 patients were collected highlighting the clinical heterogeneity of this ultra-rare and severe disease. It also characterizes and correlates the functional impact of each gene mutation variant with the underlying disease

📢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