A research project submitted by MUB, entitled "Genetic Background of Overgrowth Syndromes in Polish and Lithuanian Populations: basis for rapid genetic testing to prevent neoplasias", received funding from the National Science Centre in the amount of PLN 1,472,520. The project will be implemented in cooperation with the Medical Faculty of the University of Vilnius. On the part of MUB, the project manager will be Renata Posmyk, MD, PhD, head of the Department of Clinical Genetics, and on the Lithuanian side, prof. Algirdas Utkus, MD, PhD, head of the Department of Human and Medical Genetics at the Medical Faculty of Vilnius University.
DAINA is a funding opportunity for joint Polish-Lithuanian research teams launched by the National Science Centre (NCN) and the Research Council of Lithuania (RCL). The programme aims to support research projects in all fields of science and the humanities. Within the DAINA scheme, the NCN and RCL fund only projects involving basic research. The first edition of the call took place in 2017 and attracted considerable interest from the scientific community. The funds granted at that time enabled the implementation of 16 joint Polish-Lithuanian research projects. 133 applications for a total amount of over PLN 113 million took part in this year's edition of the competition (DAINA 2). Only 11 research projects were eligible for funding, for which a total of PLN 11,691,311 was awarded.
The winning project deals with the Overgrowth Syndrome phenomenon. The term “Overgrowth Syndrome” (OGs) is commonly used by clinical geneticists and other healthcare providers. However, no formal definition exists. Medical literature on overgrowth syndromes (OGs) describes them as a highly heterogeneous group of conditions, which show a common feature of excessive growth. Timely diagnosis and clinical management implementation are crucial for patients with OGs due to an increased neoplasia risk.
This project aims to determine the genetic background of OGs in Polish and Lithuanian populations to develop diagnostic algorithms and optimize healthcare strategy for neoplasia prevention. To fulfil the aims of our project, we set six tasks: (1) to compose a cohort of patients (200 in total) with overgrowth conditions from Poland and Lithuania; (2) to classify the identified genetic variants into known and/or unknown candidate genes related to overgrowth conditions; (3) to evaluate the effects identified pathogenic variants may have on the phenotype of patients with overgrowth conditions; (4) to determine the potential structural significance of the identified mutations in most common oncogenes and tumour suppressor genes in overgrowth context; (5) to establish rapid and cost-effective diagnostic algorithms for overgrowth conditions; (6) to establish appropriate management strategies for specific overgrowth conditions to prevent neoplasia and develop personalized treatment plans. To generate and analyse the data for the tasks above modern whole genome sequencing analysis techniques and bioinformatics tools will be employed. We expect that the analysis of identified novel and previously documented mutations and variants related to OGs will be a starting point to develop and implement personalised follow-up plans for these patients, in particular, to facilitate neoplasia prevention or timely treatment.
Furthermore, this together with developed diagnostic algorithms could serve as an example of the value accurate molecular diagnosis brings both to the affected individual and the healthcare system as a whole by facilitating more efficient use of healthcare funding and limiting the disease burden. Thus, we hope that it would encourage the Agency for Health Technology Assessment and Tariff System in Poland and its Lithuanian counterpart to adopt adequate valuation of genetic tests.
Being a first collaborative study on overgrowth conditions makes our project particularly innovative and brings tremendous hope for people struggling with overgrowth and its consequences in our countries. As geographical and historical proximity of Poland and Lithuania may suggest a possible migration between our populations, this context also presents us with an interesting scientific question and provides further reasoning to collaborate on this project. We are certain that the project activities will strengthen international collaboration between the partners and provide a strong basis to develop further collaborative population studies in the future as well as contribute to scientific progress and support training and development of early-career researchers in our countries. The extensive combined experience of the Polish and Lithuanian project leaders and their respective teams in dysmorphology, molecular genetics, and related laboratory techniques ensures the project will be completed in a timely manner to the highest scientific research standards.
DAINA is a funding opportunity for joint Polish-Lithuanian research teams launched by the National Science Centre (NCN) and the Research Council of Lithuania (RCL). The programme aims to support research projects in all fields of science and the humanities. Within the DAINA scheme, the NCN and RCL fund only projects involving basic research. The first edition of the call took place in 2017 and attracted considerable interest from the scientific community. The funds granted at that time enabled the implementation of 16 joint Polish-Lithuanian research projects. 133 applications for a total amount of over PLN 113 million took part in this year's edition of the competition (DAINA 2). Only 11 research projects were eligible for funding, for which a total of PLN 11,691,311 was awarded.
The winning project deals with the Overgrowth Syndrome phenomenon. The term “Overgrowth Syndrome” (OGs) is commonly used by clinical geneticists and other healthcare providers. However, no formal definition exists. Medical literature on overgrowth syndromes (OGs) describes them as a highly heterogeneous group of conditions, which show a common feature of excessive growth. Timely diagnosis and clinical management implementation are crucial for patients with OGs due to an increased neoplasia risk.
This project aims to determine the genetic background of OGs in Polish and Lithuanian populations to develop diagnostic algorithms and optimize healthcare strategy for neoplasia prevention. To fulfil the aims of our project, we set six tasks: (1) to compose a cohort of patients (200 in total) with overgrowth conditions from Poland and Lithuania; (2) to classify the identified genetic variants into known and/or unknown candidate genes related to overgrowth conditions; (3) to evaluate the effects identified pathogenic variants may have on the phenotype of patients with overgrowth conditions; (4) to determine the potential structural significance of the identified mutations in most common oncogenes and tumour suppressor genes in overgrowth context; (5) to establish rapid and cost-effective diagnostic algorithms for overgrowth conditions; (6) to establish appropriate management strategies for specific overgrowth conditions to prevent neoplasia and develop personalized treatment plans. To generate and analyse the data for the tasks above modern whole genome sequencing analysis techniques and bioinformatics tools will be employed. We expect that the analysis of identified novel and previously documented mutations and variants related to OGs will be a starting point to develop and implement personalised follow-up plans for these patients, in particular, to facilitate neoplasia prevention or timely treatment.
Furthermore, this together with developed diagnostic algorithms could serve as an example of the value accurate molecular diagnosis brings both to the affected individual and the healthcare system as a whole by facilitating more efficient use of healthcare funding and limiting the disease burden. Thus, we hope that it would encourage the Agency for Health Technology Assessment and Tariff System in Poland and its Lithuanian counterpart to adopt adequate valuation of genetic tests.
Being a first collaborative study on overgrowth conditions makes our project particularly innovative and brings tremendous hope for people struggling with overgrowth and its consequences in our countries. As geographical and historical proximity of Poland and Lithuania may suggest a possible migration between our populations, this context also presents us with an interesting scientific question and provides further reasoning to collaborate on this project. We are certain that the project activities will strengthen international collaboration between the partners and provide a strong basis to develop further collaborative population studies in the future as well as contribute to scientific progress and support training and development of early-career researchers in our countries. The extensive combined experience of the Polish and Lithuanian project leaders and their respective teams in dysmorphology, molecular genetics, and related laboratory techniques ensures the project will be completed in a timely manner to the highest scientific research standards.