The Blog

Today is a special moment – it is exactly three years since our non-profit was founded! It’s time to celebrate but also to reflect on what we have achieved in the past three years. It was a tough start with many uncertainties but high ambitions… Developing a therapy for a genetic neurological disease so rare that only little knowledge was available and not even a name existed. Our initial strategy was to focus on three pillars
The sun is shining, and summer is in full swing! As parents, we’re all on the hunt for ways to keep our children entertained and engaged during this vibrant season. But for those of us with children facing unique challenges due to rare diseases, finding the perfect toys can be quite a task. At Cure MCOPS12, we are dedicated to supporting children with #MCOPS12, a condition marked by microphthalmia, vision impairments, mobility issues, and variable
We are thrilled to share about our recent visit to Montreal, where we had a face-to-face meeting with Prof. Jacques Michaud and Valerie Chu to discuss the progress of the MCOPS12 patient natural history study! The natural history study, spearheaded by Valerie Chu and supervised by Prof. Michaud, has been a pivotal undertaking for understanding the progression and characteristics of MCOPS12. This study, made possible by your unwavering support and contributions, is laying the foundation
Meet Ivana!
📢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
Troy completing his 3-week intensive therapy at NAPA!
🌟 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

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