Novel approach to a large-scale population screening for genetic diseases – a proof-of-concept

Project Leader: Project period: 2016 - 2019
Project funding: TEAM, FNP
Project description:

The aim of the project is to develop an efficient technology of cost-effective method of population screening for common genetic diseases like hereditary cancers, hereditary cardiovascular or metabolic disorders and others.
Implementation of the project will provide technical tools that can be used in cost-efficient population screening for mutations underlying various diseases, including presymptomatic identification of mutation carriers. The population screening will bring two important outcomes:

i) It will allow building a comprehensive map of the Polish hereditary disease-related genes and provide a strong basis for development of a truly personalized medicine in Poland.

ii) Each member of the population will have the chance to know her/his risk of developing a disease, such as hypercholesterolemia or cancer, and will have the chance to undertake properly tailored prophylactic or diagnostic approaches.

Laboratory of Human Cancer Genetics