Who We Are
Cure MCOPS12 is an Austrian nonprofit organization dedicated to improving the lives of those affected by syndromic microphthalmia 12 (MCOPS12) and accelerating research to find a cure. It should also provide a platform for discussion between family members, researchers and healthcare professionals taking care of MCOPS12 patients. It should also provide a platform for discussion between family members, physicians, and subject matter experts taking care of MCOPS12 patients.
Our Mission
Our mission is to raise awareness and fundraising to support scientific research and drug development that will ultimately result in a cure.
Meet the Team
Reinhard Pell
Founder & Chairman
Reinhard is from Salzburg, Austria. He earned his Ph.D. in Analytical Chemistry from the University of Vienna and has built a long-standing career in the pharmaceutical industry. Over the years, he has led development units working on novel drugs progressing in clinical trials, including RNA therapeutics.
The devastating diagnosis of Simon’s ultra-rare and debilitating disease – without any available treatment options – profoundly changed his life. Together with his wife, Edith, Reinhard founded Cure MCOPS12 with a bold and deeply personal mission: to make the impossible possible by finding a therapy for MCOPS12 patients and enabling them to live better and brighter lives.
In his spare time Reinhard loves doing sports and spending time in nature – alpine hiking, skiing, or having a swim with his children.
Edith Pell
Co-Founder & Vice Chairwoman
Edith is from Salzburg, Austria. She holds a master’s degree in Social Sciences and has worked as a social worker for over a decade. Alongside her professional role, she manages the daily life of Simon and his little sister. Seeing her children happy is truly the greatest gift she could wish for.
From day one, Edith and her husband Reinhard promised one another that they would do everything possible to support their little sunshine, Simon, and give him the best life they can. She firmly believes that her husband’s dedication and expertise in drug development – together with the support of their family and friends – will ultimately lead to a cure for MCOPS12.
When she is not busy with family or work, Edith enjoys spending time in the beautiful mountains surrounding Salzburg, going for hikes or runs to clear her mind.
Katri Rouvali
Secretary
Katri is a Finnish expatriate based in Salzburg, Austria. Her international career in drug development brought her to the same company as Reinhard, forming a lifelong friendship with the Pell family.
She has over 20 years of experience in pharmaceutical product development, having worked as a scientist, project manager, and leader, with specialization in parenteral drug products for both small molecules and biologics. Driven by a passion for turning seemingly impossible challenges into achievable outcomes, she supports Cure MCOPS12.
Outside of her professional work, Katri enjoys sports especially alpine skiing, participating in international sports event management, and knitting at home—often while following winter sports or motorsport on television.
Despite living abroad, she remains deeply connected to her Finnish roots, which continue to shape her values, resilience, and outlook on life.
Edith Rockenschaub
Treasurer
Edith is from Hagenberg, Austria. She serves as the treasurer of Cure MCOPS12, bringing valuable knowledge and experience in accounting to the role. Professionally, Edith works as an accounting clerk at a construction company.
Edith and Simon’s mom have known each other since childhood, so when she learned about Simon’s situation, she and her partner immediately stepped in to support the Pell family in every way they could. Outside of work, when she needs a break from numbers and invoices, Edith enjoys gardening and baking homemade bread.
Ivana Ursić Ivić
Volunteer
This is Ivana from Split, Croatia. She is an engineer and drug development specialist and currently works as a project manager. After meeting Reinhard, Ivana was inspired by his commitment to securing a therapy not only for his son, but for all MCOPS12 patients, and felt compelled to help. In her free time, Ivana enjoys traveling, bouldering, and spending time with her husband and cats.
Kathi Carl
Volunteer
This is Kathi from Thuringia, Germany. She is a chemist and currently works as a project manager. Kathi chose to support Cure MCOPS12 after being inspired by the Pell family’s story and, as a mother herself, deeply relating to the determination to do everything possible for one’s family. In her free time, she enjoys hiking with her family, playing basketball, and reading.
Scientific Advisory Board
Dr. Wojciech Krezel
Research Director, IGBMC
https://www.igbmc.fr/en/recherche/teams/brain-development-and-physiology
Prof. Jacques L. Michaud, MD, FRCP
Director, Centre de recherche Azrieli du CHU Sainte-Justine;
Professor of Pediatrics and Neurosciences, Université de Montréal
https://www.chusj.org/Biography?id=66412bca-6e3c-4bee-b1e6-30d8c88d07d7&lang=en
Inge Meijer, MD, PhD, FRCP
Child Neurologist, CHU Sainte-Justine
Assistant Clinical Professor, Department of Neurosciences and Department of Pediatrics, Université de Montréal
https://www.chusj.org/Biography?id=a9ea81e4-2dfc-4d16-9d9c-fb47fa484f65&lang=en
Rodney A. Bowling Jr PhD
Chief Scientific Officer, RareLabs (A Division of AlphaRose Therapeutics)
Dr. Rodney A. Bowling Jr. serves as the Chief Science Officer of RareLabs (A division of AlphaRose Therapeutics) and To Cure A Rose Foundation (TCAR), dedicating his career to leading scientific strategy and therapeutic development for children with rare monogenic diseases. He earned his Ph.D. in Medical Sciences in 2008 from the Texas A&M University Health Science Center, Institute of Biosciences and Technology. Over his career, Dr. Bowling has directed large scientific teams through the complex design, optimization, and advancement of RNA- and gene-based therapies, successfully guiding numerous programs through FDA and international clinical trials. In addition to his executive leadership, he actively advises patient-led rare disease foundations, including serving on the Scientific Advisory Board for the Saving Sasha from SLC6A1 and Cure for Casey Foundation.
Applying his extensive translational expertise to MCOPS12, Dr. Bowling and his team delivered critical foundational work for Simon’s ASO therapy. Using long-read sequencing, they identified insertions and deletions (indels) within Simon’s mutant RARB allele, revealing ideal and highly specific target sites for ASO development. Building on this key genetic insight, the team successfully designed and screened allele‑specific ASOs, resulting in several promising candidates for further therapeutic development.
Beyond Simon’s personalized ASO therapy, Dr. Bowling and his team are also developing functional readouts in a MCOPS12 patient‑derived neuronal cell model. This model will form the basis for a large‑scale drug repurposing screen aimed at identifying additional therapeutic opportunities for MCOPS12.