The course Molecular Basis of Monogenic Diseases is aimed at all postgraduate students with an interest in inherited diseases and their diagnosis, genetics, mechanisms and molecular therapy.
Individually, monogenic (or: single-gene) disorders are rare but taken together affect about 1% of the population. Moreover, owing to their accessibility to genetic and functional assays, monogenic disorders have contributed disproportionately to the development of modern tools and methods in genetics and to our knowledge of human gene function in health and disease.
The scope of this course is to describe the modes of inheritance and the molecular mechanisms of monogenic diseases. Drawing on specific examples of human disorders, the course will further provide an overview of tools to study and understand monogenic diseases, with an emphasis on new technologies for gene discovery, genotyping and functional genomics, and including advanced therapies and bioinformatics. Laboratory workshops and problem-solving exercises within the course will help internalise the course content and connect it to real-life diagnostic and research work. In the same vein, attention will be given to the more applied aspects of monogenic diseases, such as disease management, current therapeutic and prevention approaches, and the prediction of disease severity based on primary genotype and on the presence of genetic modifiers and other biomarkers.
Complex diseases are multifactorial, polygenic disorders that develop as a result of interactions of multiple genes, with each other, as well as with the environment. This comprehensive lecture course will discuss broader topics in the field of complex diseases (such as the use of epidemiology and the roles of nutrition, environment, microbiome, etc.,) as well as current aspects (such as underlined molecular mechanisms involved in their pathogenesis and therapeutic management). Overall, despite the complicated pathogenic mechanisms that operate towards the development of complex diseases, our understanding of their molecular basis has been greatly improved in recent years.
This course will present the potential that genetics and molecular biology hold for the understanding of complex diseases (with emphasis on cancer, cardiovascular, skin, gastrointestinal, respiratory and prostate disorders) as well as current concepts of the underlined molecular mechanisms of their pathogenesis and therapeutic management. The use of -omics technologies as well as exposure to cutting-edge knowledge on pharmacogenomics, personalized medicine, molecular diagnostics, biomarker discovery, etc., together with real-life applications in contemporary medicine will be covered, at lectures, when applicable. Lastly, relevant clinical (e.g., demographics, risk factors, early diagnosis, prevention, therapy, use of biomarkers, etc.,) and histological aspects regarding disease severity will be also examined.
The purpose of the course is to provide a foundation and a stimulus for the understanding of the structure and function of the central and peripheral nervous system so that the molecular basis of neurological disease is better understood. Basic knowledge on molecular biology methodologies and the scientific basis of Neurogenetics will be covered. Great emphasis will be given to correlating basic scientific principles to disease causation and symptoms in the nervous system.
The course will cover the anatomy and functional organization of the central and peripheral nervous system at macroscopic, microscopic and sub-cellular level. Common disease mechanisms participating in neurodegeneration such as oxidative stress, apoptosis, protein aggregation, mitochondrial dysfunction will be outlined and subsequently illustrated in a variety of human neurological disorders. Similarly the contribution of some cellular organelles in the pathophysiology of neurological disease will be illustrated. Throughout the course great emphasis will be made to correlate clinical phenotype with the molecular basis of disease which will also include genetic and epigenetic aspects. Lastly a variety of animal models will be examined to illustrate some of the principles of translational medicine.
The course of Gene and Cell Therapy includes the main topics of the fields of Gene and Cell Therapy. The majority of diseases, inherited or acquired could be candidates for gene and cell therapy. Until now, several approaches have been developed towards this direction. Some of these have been tested in patients but the majority of them are at the research level, since gene and cell therapy are recent disciplines of the biomedical field.
The initial aim of the course is the understanding of the various ways of delivering genetic material such as viral and non-viral vectors, in cells and organisms. The genetic “tools” which are currently used for gene and cell therapy will then be described. In particular, genetic “tools” like CRISPR-Cas9, antisense oligonucleotides and siRNAs will be analysed. A big portion of the course will also deal with the various strategies developed for gene and cell therapy of diseases such as muscular dystrophies, cancer, inherited and infectious diseases.
Finally, gene and cell therapy clinical trials will be described and discussed in the classroom. The course is designed to understand firstly the concepts and tools for gene and cell therapy and then their application in the various strategies against diseases. The students will then comprehend and put together all knowledge received through presentations of research papers and acquaintance and discussions of gene and cell therapy clinical trials. Tutorials will be used to answer specific questions and to deepen students’ understanding through group discussions with the aid of research papers.
The course in Molecular Genetics will focus on monogenic and multifactorial diseases as well as forensic genetics, bioethics and phylogenetics. Selected areas of emphasis will cover classical, genetic and epigenetic risk factors for cardiovascular diseases such as atherosclerosis, lipid disorders, thrombosis, aortic aneurysms including the generation of polygenic risk scores for disease management. Furthermore, genetic defects leading to disorders of sexual differentiation, premature and delayed puberty will be addressed. The role of genetic polymorphisms in athletic performance and related bioethical issues will also be discussed.
The course will include lectures on the use of genetics in human identification for forensic purposes including crime related investigations, kinship analyses, missing persons and disaster victim identification. Data analysis, interpretation and basic statistical methods used in forensic genetics will also be covered. The course will be completed by the presentation of interesting bioethical issues resulting from the advancement of genetics in health and/or forensic related areas and how genetic studies undergo bioethical review in Cyprus.
The aim of this course is to provide in-depth education to students in the area of Human Cytogenetics and Genomics. The course will cover all aspects of human cytogenetics and genomics and will include methodologies from conventional cytogenetics such as tissue culture, techniques for the visualization of chromosome aberrations, karyotype analysis and FISH (Fluorescence in Situ Hybridization) to more cutting-edge technologies used in molecular cytogenetics and genomics such as array-CGH (Comparative Genomic Hybridization) and NGS (Next Generation Sequencing).
The course will also cover the mechanism of formation of chromosomal abnormalities, their pathogenicity and clinical interpretation. Therefore, chromosomal abnormalities will be discussed from both the clinical as well as the cytogenetic aspect. Emphasis will also be given in the current research involving the field of cytogenetics and genomics.
The lectures of this course include topics such as, laboratory methodologies, analysis of chromosomes, preimplantation, prenatal and postnatal analysis, chromosomal disorders and syndromes, cancer cytogenetics, genomic disorders, molecular mechanisms, genetic variation, non-invasive prenatal diagnosis, NGS and many other topics. The course includes lectures, tutorials, workshops, presentation of actual cases and referrals to current bibliography.
The field of Medical Genetics requires that human samples are properly and efficiently analysed. The aim of this course is to enable students to understand in-depth, critically discuss, implement and competently interpret and present results of a wide range of methods and techniques that are applied in Medical Genetics.
The course will consist of lectures, tutorials, workshops and literature studies. Each lecture will be focused on one major methodology or technology and relevant application examples will be presented and discussed.
Methodology and technology to be covered includes: Nucleic acids extraction and separation, PCR amplification, real-time PCR, restriction enzymes and their applications, SNP analysis, microsatellite genetic markers and fragment analysis, DNA sequencing, blotting techniques, basics of cell culture, and microscopy, MLPA analysis, haplotype and linkage analyses, association studies, genetic risk assessment, next generation sequencing, gene expression profiling microarrays technology, -omics technologies and bioinformatics for genomic data analysis.
The course is mainly focused on a large and heterogenous group of rare genetic disorders, known as Inborn Errors of Metabolism (IEMs). IEMs are primarily caused by inherited deficiencies of enzymes resulting in the disruption of biochemical pathways, implicated either in the biosynthesis or breakdown of important molecules. The course aims at providing postgraduate students with a comprehensive background and understanding of the biochemical consequences of enzyme dysfunction and the resulting cell and organ pathology. The topics covered in this course deal with the major pathways of intermediary metabolism and discuss genetic, biochemical, cellular and clinical aspects of related disorders. Inherited enzymatic deficiencies and their effects on the function of subcellular organelles such as lysosomes, peroxisomes and mitochondria will be further highlighted.
Students will also be introduced to principles, methodology and instrumentation currently applied in laboratory investigation of IEMs, including the latest technological advances and will obtain hands-on experience in selected diagnostic procedures.
The course further reviews current approaches, challenges and new trends in the management of IEMs and discusses the concept of newborn screening for their early detection, along with the associated benefits, pitfalls and dilemmas.
The aim of this course is to provide an in-depth understanding of basic cellular and molecular processes underpinning brain function. The unique aspects of nervous system development, cellular architecture, excitability and homeostasis will be highlighted. Examples of neurological disorders resulting from genetic or acquired nervous system disturbances at the cellular and molecular level will further emphasize their importance and provide a link between basic and clinical neuroscience.
In addition to the theoretical basis, the course will include practical aspects of research in the neuroscience laboratory such as imaging, microscopy, DNA recombination and generation of disease models, as well as bioinformatics and computation neuroscience methods, all needed for pursuing a career in neuroscience research.
This course will provide complementarities with the other core courses within the Neuroscience MSc/PhD program in order to offer a complete coverage of the field. Transferable skills will also be acquired through focused school-wide lectures.
The main emphasis of this course will be twofold. On the one hand it will review and discuss the basic structure of the nervous system and the way its nature and pattern of physiological functioning influence normal and abnormal behaviour; neuronal functioning and its effects on neurotransmitters, structural and anatomical features of the nervous system, hormonal and endocrine functioning and the interrelationships between various biological systems in the regulation of behaviour.
On the other hand it will review and discuss the physiological bases and current research in a number of selected behaviours and neurological/psychiatric conditions such as sleep, eating, reproduction, aggression, memory, communication and mental disorders.
Physiological, anatomical and communicative functions of neurons in the central nervous system / Structures and anatomical features of the brain, especially those parts related to behaviour / The neural and/or hormonal bases of selected behaviours / Interrelationships between various parts of the brain in the regulation of behaviour / Contemporary literature in physiological bases of behaviour / Current research in physiological neuropsychology and comparisons with results of contemporary research with other published information.
The course Molecular Virology and Immunology includes the main topics in the fields of Virology and Immunology. This course has a dual purpose: to provide an integrated and more advanced understanding of viruses in general and their role in disease pathogenesis, focusing on understanding the molecular basis of these processes; and secondly to provide broad knowledge of the basic concepts in cellular and molecular immunology. Emphasis will also be given to understanding the viral survival strategies and the immune mechanisms that result in elimination of viral pathogens.
An overview of available approaches (vaccines and antiviral drugs) for providing protection and treatment against viral diseases and of various cutting edge methodologies currently used for the diagnosis and monitoring of viral infections will also be provided by this course. Tutorials held throughout the course will address specific questions, helping students to broaden the knowledge acquired during lectures through group discussions and the use of original research papers.
Finally, the workshops will be used to improve students’ communication skills through oral presentations and small group discussions. The course does not require any previous knowledge in virology and immunology.
The data generation storm that the biomedical community experiences the last two decades has led to new requirements on data analysis. Specialized analytics per data layer, multisource data integration and disease/group/patient profiling are needed to capture the systemic properties of the investigated condition. Biology can be viewed as a data science and Medicine has been envisioned and is moving towards a precision and personalized mode. Biology meets Medicine in a virtual space called Translational Research, where the findings from Biology are directly investigated for their application in the clinical practice (translation of the findings to clinical applications). The needs of Medicine are directly guiding specific biological experiments (translation of the medical needs to biological research). In this virtual space of translational research, there are also other disciplines that contribute to the interconnection from bench to bed side. A major player among them is the discipline of bioinformatics and especially a relatively new approach, named Systems Bioinformatics which focuses on integrating information across different levels using a bottom-up approach as in systems biology with a data-driven top-down approach as in bioinformatics. Bioinformatics is an interdisciplinary field that includes the development and implementation of computational methods and tools suitable to handle, decipher and interpret the plethora of biomolecular data derived nowadays, acting as a bridge between bioinformation and biological knowledge extraction. The aim of the course is to enable students to get familiar with a significant number of bioinformatics tools and databases, understand the various levels of omics and the insights their analysis can give, learn how to analyze the data in a sequential/structural/functional/network level, relate molecular findings with diseases, design biomarker and drug discovery flows, critically discuss the current limitations and design the next generation of tools.
This preparatory course precedes the main CING postgraduate course program and provides necessary background information for the main courses. It is organised as 9 lecture sessions with associated tutorials, covering the fundamentals of cell and molecular biology, biochemistry, immunity, medical genetics, disease mechanisms and methods in molecular biosciences.
For students from non-biomedical backgrounds and where this was indicated by conditional acceptance to the main courses, attendance and successful completion of a written course exam are mandatory for participation in the CING main course programme. The course is also highly recommended as a vocabulary primer for participants originating from non-English-speaking institutions and as an update for participants who graduated a number of years ago. Moreover, attendance may benefit anyone registered for the main CING postgraduate programs.