In May 2024, a team of authors from FM MU, CEITEC MU, Faculty of Science MU, joint departments at the University hospital Brno and collaborating Canadian institutions published an article in the prestigious journal Nature - NPJ Precision Oncology, which discusses the specialized treatment of two siblings with a rare cancer predisposition.
Patients with rare diseases have always been part of society. Thanks to more accurate diagnosis and media coverage of some cases, they have recently made headlines. However, with their diagnoses, they are often left at the gates of the healthcare approval and reimbursement system. Despite this, it makes sense for an increasing number of doctors to treat these patients, even at the cost of overcoming the many obstacles in the aforementioned system.
Two such patients, siblings, were diagnosed at the Department of Paediatric Oncology of the Medical Faculty of Medical University in Brno with one of the rare cancer predispositions, Constitutional Mismatch Repair Deficiency (CMMRD) syndrome, which significantly increases the risk of cancer. The key factor in this particular case was not only making an accurate diagnosis, but also genetic testing of other family members. Thanks to the experience gained in treating the older sibling, the doctors and scientists from the interdisciplinary international team were then able to provide his younger brother with highly personalised, personalised care. The immune system-focused therapy, which included the administration of an autologous dendritic cell vaccine produced by the CREATIC Centre of Excellence at the MU Faculty of Medicine, prolonged both brothers' lives and helped reduce the need for the younger sibling's demanding chemotherapy.
Despite the fact that this family was struck by misfortune in the form of a serious cancer, the cooperation of a number of theoretical and clinical departments of our faculty with colleagues from CEITEC MU, the Faculty of Science MU, the Centre for Precision Medicine and other departments of the Brno University Hospital enabled us to at least partially reverse the adversity and influence the course of treatment of tumours with an extremely unfavourable prognosis in a positive direction. Comprehensive molecular genetic laboratory diagnostics based primarily on next-generation sequencing was provided by colleagues from Prof. Ondřej Slabý's research group at CEITEC MU. Advanced analysis of sequencing data and clinical consultation during treatment was provided by colleagues from one of the world's best centres for treatment and diagnosis of patients with specific cancers, The Hospital for Sick Children in Toronto, Canada.
However, this very valuable experience, in which a spark of hope was sparked in the treatment of a rare hereditary cancer with an extremely unfavourable clinical course, has once again confirmed that the current rules of registration and reimbursement of medicines are completely inadequate for the care of rare diseases and a systemic change needs to be initiated.
center of excellence creatic
The main mission of the Central European Advanced Therapy and Immunotherapy Centre (CREATIC) is to excel in the research, development and production of innovative medicines for advanced therapies, while also finding innovative ways to provide very expensive advanced therapy medicines to patients in need at an affordable price.
center for precision medicine
This interdisciplinary workplace of the University Hospital Brno brings together experts in precision medicine from various areas of research and clinical practice. Its aim is to advance the level of personalised treatment and enable more effective and faster implementation of new technologies and procedures into clinical practice.
Institutes and scientific and medical teams involved in the publication:
On Tuesday, January 7th, the University Campus Library was filled with energy. Guests, refreshed by the holiday break, greeted each other warmly and exchanged wishes for the New Year. The conversation over the first coffee of the year went on longer than usual, gently kicking off our first Research Breakfast of the season.
SPARK Europe Webinar Series | 5th February 2025 |4-5 pm (CET) | Entrepreneurial Mindset and Business Thinking in Life Science | Ingo Schroeter | hosted by SPARK-BIH
