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 per cent 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 current aspects in the field of complex disorders with emphasis on molecular mechanisms involved in their pathogenesis. 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 and will cover major examples (e.g. cancer, cardiovascular, skin, gastrointestinal and respiratory disorders) as well as current concepts of their underlined molecular mechanisms. A number of study designs, the use of new technologies (e.g. high throughput genotyping, functional genomics, model organisms and bioinformatics) and exposure to cutting-edge knowledge, delivered at lectures, together with real life applications in contemporary medicine will be covered. Lastly, relevant clinical aspects (e.g. prevention, early diagnosis, therapy, use of biomarkers, etc.) as well as evaluation of disease severity based on modifying factors (e.g. genetic and epigenetic) will be examined.
The purpose of the course is to provide a foundation and a stimulus for the under¬standing 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 sci¬entific 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 neuro¬degeneration such as oxidative stress, ap¬optosis, 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 transla¬tional medicine.
The aim of this course is to provide in-depth education to students in the area of Hu¬man Cytogenetics and Genomics. The course will cover all aspects of human cytogenetics and genomics and will include methodolo¬gies from conventional cytogenetics such as tissue culture, karyotype and FISH 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 abormalities will be discussed from both the clinical as well as the cytogenetic aspect. Emphasis will also be given in the current re¬search 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 mecha¬nisms, non-invasive prenatal diagnosis, NGS and many other topics. The course will include 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, imple¬ment and competently interpret and present results of a wide range of methods and tech-niques 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 ap¬plication 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.
This course is mainly focused on inborn errors of metabolism, a large and heterogeneous group of genetic disorders which are predominantly caused by inherited deficiencies of enzymes involved in specific biochemical pathways. The course aims at providing postgraduate students with a comprehen¬sive background and understanding of the biochemical consequences of enzyme dysfunction and the associated cell and organ pathology.
The lectures deal with the major metabolic pathways and discuss genetic, cellular, clinical and biochemical features of related disorders. Inherited enzymatic deficiencies and their effects on the function of organelles such as lysosomes, peroxisomes and mitochondria will be further highlighted.
Students will also be introduced to the princi¬ples, methodology and instrumentation used for the laboratory investigation of inborn errors of metabolism including the latest technological advances. Current approaches, challenges and new trends in the manage¬ment and treatment of these disorders will be reviewed. The concept of newborn screening for inherited metabolic disorders along with the associated benefits, problems and dilem¬mas will be further discussed.
The aim of this course is to provide an in-depth understanding of basic cellular and mo¬lecular processes underpinning brain function. The unique aspects of nervous system devel¬opment, 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 genera¬tion of disease models, as well as bioinformatics and computation neuroscience methods, all needed for pursuing a career in neuroscience research.
This course will provide complementari¬ties with the other core courses within the Neuroscience MSc/PhD program in order to offer a complete coverage of the field. Trans¬ferable skills will also be acquired through focused school-wide lectures.
The course Molecular Virology and Immunol¬ogy 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 immu¬nology. Emphasis will also be given to under¬standing 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 cur¬rently used for the diagnosis and monitoring of viral infections will be 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 knowl¬edge in virology and immunology.
Bioinformatics is a new multidisciplinary 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. It is recognized that bioinformatics are fuelling the rise of translational research and the success of molecular medicine. The aim of the course is to enable students to get familiar with a significant number of bioinformatics tools and databases, understand the computational methods behind them, be able to exploit in-depth the capabilities of the tools, implement and competently interpret and present the results of a wide range of bioinformatics analyses, critically discuss the current limitations and design the next generation of tools.
The course will consist of lectures, tutorials, workshops and literature studies. Each lecture will be focused on one major bioinformatics method or a group of methods with relevant application examples. Methodology and applications to be covered include: Databases and Web Servers, Elements of Computational Intelligence and Programming, Sequence/Structural/Functional Analysis, Omics Data Analysis, Biological Network Reconstruction and Analysis, Modeling and Simulation in Biology, Computational Biomarker Discovery, In Silico Drug Discovery, Integromics and Personalized Medicine, BioBank Informatics, Ethics in Bioinformatics and Informatics inspired by Biology.
This preparatory course precedes the main CSMM 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.
Attendance and successful completion of a written course exam are compulsory for most course participants from non-biomedical backgrounds. 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 CSMM postgraduate programs.