Periodic Reporting for period 3 - CY-BIOBANK (Biobanking and the Cyprus Human Genome Project)
Reporting period: 2022-04-01 to 2023-09-30
The problem relates to the lack of adequate research infrastructures in Cyprus; hence it is a country of low performance in research and innovation. In particular, we are interested in a Biobank, as a medical research infrastructure that is a sine qua non instrument for motivating and fostering innovative translational research. Our group has started the first Biobank in the country in 2011 with external competitive funding, however, it was not adequate to satisfy the global need of the research community on the island, and most importantly it could not do justice to the many unmet clinical needs. With this new generous funding from the HORIZON 2020/TEAMING program, we aim to upgrade the existing infrastructure into a Center of Excellence in Biobanking and Biomedical Research, in compliance with European standards and norms. This new Center is destined to enhance the enrolment of large numbers of volunteers, healthy and affected with various genetic diseases, monogenic and complex, and generating Big Data of high quality, genetics/genomics, and else. This development is going to result in new opportunities and tools for improving the diagnosis, prognosis, and treatment of diseases, amongst many other objectives to the benefit of every citizen and the society at large.
It is extremely important for society because having access to a contemporary Biobank the medical and research community will be in a position to develop innovative projects aimed to better diagnosis, prognosis, and treatment of medical conditions including the rare monogenic diseases as well as other more frequent multifactorial conditions, including diabetes, cardiovascular conditions, cancer, to name a few. New developments and discoveries to emanate from research in the next few years will result in improving the quality of life of patients as well as lead to the evidence-based establishment of new public health care policies, to be implemented by the Ministry of Health. Therefore, this project in addition to its scientific goals it addresses unmet societal needs in a global manner, promising to save lives and reduce the health care budget overall.
The overall objectives are the following:
1. Establishment of a Center of Excellence with two pillars:
a) Upgrading of the University of Cyprus Biobank to a state-of-the-art Biobank with a certified European standard contemporary Biobanking infrastructure, connected to the European Research Infrastructure BBMRI-ERIC network, the largest Biobank directory in Europe. The material and data to be archived will constitute a national treasure to be used and exploited by the entire research community, to develop projects aimed to new discoveries in health and disease. Special attention will be given to issues of confidentiality and absolute respect to ethical, legal, and social implications emanating from this activity, and in compliance with the General Data Protection Regulation.
b) Well-equipped research facilities with a capacity to launch genetics/genomics projects making use of a wealth of archived high-quality biomaterial and associated clinical data to understand and treat diseases in a patient-centric approach. People will be encouraged to invest in research and try to answer questions relating to the better serving of the citizens to offer precision medicine and personalized treatments.
2. Archiving of medical data and biological material from healthy volunteers as well as diseased people with conditions such as inherited kidney diseases, inherited heart conditions, inherited cancer syndromes, etc, and further expanding to multifactorial disorders, including diabetes, cancer, cardiovascular diseases, etc. The initial aim is to archive and have complete records for >16,000 volunteers in the next 7 years of European funding.
3. Establishment of the Cypriot reference healthy genome by providing whole-exome and whole-genome sequencing for at least 1000 volunteers. At a later stage, this is going to be complemented by another 500 family trios to be analyzed by whole-genome sequencing.
It is extremely important for society because having access to a contemporary Biobank the medical and research community will be in a position to develop innovative projects aimed to better diagnosis, prognosis, and treatment of medical conditions including the rare monogenic diseases as well as other more frequent multifactorial conditions, including diabetes, cardiovascular conditions, cancer, to name a few. New developments and discoveries to emanate from research in the next few years will result in improving the quality of life of patients as well as lead to the evidence-based establishment of new public health care policies, to be implemented by the Ministry of Health. Therefore, this project in addition to its scientific goals it addresses unmet societal needs in a global manner, promising to save lives and reduce the health care budget overall.
The overall objectives are the following:
1. Establishment of a Center of Excellence with two pillars:
a) Upgrading of the University of Cyprus Biobank to a state-of-the-art Biobank with a certified European standard contemporary Biobanking infrastructure, connected to the European Research Infrastructure BBMRI-ERIC network, the largest Biobank directory in Europe. The material and data to be archived will constitute a national treasure to be used and exploited by the entire research community, to develop projects aimed to new discoveries in health and disease. Special attention will be given to issues of confidentiality and absolute respect to ethical, legal, and social implications emanating from this activity, and in compliance with the General Data Protection Regulation.
b) Well-equipped research facilities with a capacity to launch genetics/genomics projects making use of a wealth of archived high-quality biomaterial and associated clinical data to understand and treat diseases in a patient-centric approach. People will be encouraged to invest in research and try to answer questions relating to the better serving of the citizens to offer precision medicine and personalized treatments.
2. Archiving of medical data and biological material from healthy volunteers as well as diseased people with conditions such as inherited kidney diseases, inherited heart conditions, inherited cancer syndromes, etc, and further expanding to multifactorial disorders, including diabetes, cancer, cardiovascular diseases, etc. The initial aim is to archive and have complete records for >16,000 volunteers in the next 7 years of European funding.
3. Establishment of the Cypriot reference healthy genome by providing whole-exome and whole-genome sequencing for at least 1000 volunteers. At a later stage, this is going to be complemented by another 500 family trios to be analyzed by whole-genome sequencing.
Between October 2019 and September 2023 (M1-M48), the CY-Biobank project achieved significant milestones.
Notably, it delivered 1500 whole exomes of Cypriot volunteers through collaboration with the Regeneron Genetics Center and a private biotech, with plans for additional sample sequencing aiming for a total of 5000.
In the domain of genetic modifiers impacting kidney function, the project is preparing a major manuscript on severe kidney function decline in patients with mutations in COL4A3 and COL4A4 genes. Progress includes a preclinical study on Alport syndrome and detailing the first 25 Cypriot families with inherited heart conditions.
A groundbreaking clinical trial on MUC1 kidney disease was initiated in two Cypriot cohorts in collaboration with the Broad Institute. The Biobank expanded to over 8000 volunteers, including convalescent COVID-19 patients, with comprehensive antibody testing.
Collaboration with OPHTHALMOS Research and Educational Institute archived over 1000 volunteers with various eye diagnoses. Molecular diagnostic services showed high-quality testing for inherited kidney and heart conditions, impacting medical and societal issues and benefiting the Ministry of Health's budget.
In genetic research in cardiology, over 600 patients from 150 families were archived, with completed genetic testing and ongoing work for substantial impact on clinical diagnosis.
OpenSpecimen implementation reached full operational capacity in its first phase, with ongoing upgrades.
The project engaged with mass media, presented at conferences, organized educational activities, and received recognition at the 2023 Researchers' Night, emphasizing success in genomics, clinical trials, biobanking, and public engagement.
In conclusion, the CY-Biobank project not only achieved milestones but showcased significant progress across diverse fields.
Notably, it delivered 1500 whole exomes of Cypriot volunteers through collaboration with the Regeneron Genetics Center and a private biotech, with plans for additional sample sequencing aiming for a total of 5000.
In the domain of genetic modifiers impacting kidney function, the project is preparing a major manuscript on severe kidney function decline in patients with mutations in COL4A3 and COL4A4 genes. Progress includes a preclinical study on Alport syndrome and detailing the first 25 Cypriot families with inherited heart conditions.
A groundbreaking clinical trial on MUC1 kidney disease was initiated in two Cypriot cohorts in collaboration with the Broad Institute. The Biobank expanded to over 8000 volunteers, including convalescent COVID-19 patients, with comprehensive antibody testing.
Collaboration with OPHTHALMOS Research and Educational Institute archived over 1000 volunteers with various eye diagnoses. Molecular diagnostic services showed high-quality testing for inherited kidney and heart conditions, impacting medical and societal issues and benefiting the Ministry of Health's budget.
In genetic research in cardiology, over 600 patients from 150 families were archived, with completed genetic testing and ongoing work for substantial impact on clinical diagnosis.
OpenSpecimen implementation reached full operational capacity in its first phase, with ongoing upgrades.
The project engaged with mass media, presented at conferences, organized educational activities, and received recognition at the 2023 Researchers' Night, emphasizing success in genomics, clinical trials, biobanking, and public engagement.
In conclusion, the CY-Biobank project not only achieved milestones but showcased significant progress across diverse fields.
While concrete results are pending, early progress suggests an anticipated significant socio-economic and medical impact from the diagnostic and research projects at the CoE, addressing unmet needs. Chronic kidney disease, affecting over 10% of the population, and inherited heart conditions, affecting about 1/200-250 individuals globally, are being systematically addressed for the first time through extended genetic testing, benefiting Cypriot patients and informing clinicians. The ongoing CYPROME project, delivering one thousand Whole Exomes of Cypriots, is yielding benefits.
Furthermore, the CoE's infrastructure and expertise are sought by colleagues from UCY and other universities, expanding visibility and participation in external research. Two major collaborations show promise: an expanded agreement with the Regeneron Genetics Center aims to offer over five thousand whole exomes for various diseases, and a longstanding partnership with the Broad Institute on MUC1 kidney disease is progressing toward a clinical trial involving Cypriot patients.
Furthermore, the CoE's infrastructure and expertise are sought by colleagues from UCY and other universities, expanding visibility and participation in external research. Two major collaborations show promise: an expanded agreement with the Regeneron Genetics Center aims to offer over five thousand whole exomes for various diseases, and a longstanding partnership with the Broad Institute on MUC1 kidney disease is progressing toward a clinical trial involving Cypriot patients.