21.10.2021
Magdalena Koczkowska, Ph.D. from the Department of Biology and Pharmaceutical Botany of the MUG and International Research Agenda 3P – Medicine Laboratory received 1 499 000 PLN of funding under the programme LIDER XII of the National Centre for Research and Development (Narodowe Centrum Badań i Rozwoju, NCBR) for project Opracowanie narzędzia diagnostycznego z wykorzystaniem techniki wysokoprzepustowego sekwencjonowania nowej generacji do kompleksowej diagnostyki molekularnej wybranych fakomatoz, ze szczególnym uwzględnieniem neurofibromatozy typu 1 (Creating a diagnostic tool with usage of high-throughput new generation sequencing for complex molecular diagnostic of phacomatoses, especially neurofibromatoses type I).
The project’s goal is creating a diagnostic tool with usage of high-throughput new generation sequencing to comprehensively diagnose patient with suspicion of neurofibromatosis type I (NF1) or related diseases. High sensitivity of this test will allow also diagnosing somatic pathogenic variants and mosaic changes on low level of detection, which will apply for diagnosing mosaic forms. Due to high risk of developing cancer and numerous multisystem complications, early diagnosing is fundamental in case of patients with suspicion of phacomatoses, because it allows them getting access to coordinated and orientated specialized care, including early cancer prevention.
The contest is intended to extend competences of young scientists during implementation their own projects. Moreover, the LIDER programme’s aim is encouraging scientists to cooperation with companies by making commercial research possible. In total, 56 projects were funded wit 80 670 706,14 PLN. Project of Magdalena Koczkowska, Ph.D. took a high 6th place (92/100 pts)
More information about the contest is available an Polish-language NCBR’s website.
Photo Paweł Sudara/MUG