Introduction to Molecular Biomedical Sciences (if needed)
The preparatory course Introduction to Molecular Biomedical Sciences provides necessary background information for the main courses of the CSMM Molecular Medicine and Medical Genetics programs. Attendance is compulsory for course participants from non-biomedical backgrounds, is highly recommended for participants whose biomedical education took place at non-English-speaking institutions or ended a few years ago, and may benefit anyone registered for the main CSMM postgraduate programs.
The course has a three-week duration and is structured into nine lectures.
MG101: Molecular Genetics
The course in Molecular Genetics will focus primarily on human genetics where selected areas of emphasis will cover a broad range of basic concepts including: concept of the gene and its function, DNA structure, mechanisms of transcription and translation, gene expression, cell division, patterns of inheritance, pedigree analysis and genetic counselling. More complex areas will also be addressed, like identifying and analyzing functional genes, understanding the role of mutations in disease and human evolution, population genetics and the significance of the Human Genome Project and its outcomes and fields that followed the completion of the Human Genome Project. Applied topics such as the use of genetics in medicine and forensics, as well as ethical considerations surrounding the application of molecular genetics will also be covered.
The major objectives for the course will be the following:
1. Review some basic aspects of molecular genetics.
2. Extend knowledge of molecular genetics to a more advanced level.
3. Bring overall knowledge of molecular genetics to a current status.
4. Expose the students to critical thinking on issues related to molecular genetics.
5. Expose the students to useful electronic sequence databases useful in the study of molecular genetics.
The aim of this course is to provide education to students in the area of Human Cytogenetics and Genomics. The course will cover all the issues of human cytogenetics and genomics and target the understanding of the behaviour of small and large size genetic changes and their pathology. In addition, it will target the understanding of medical genomics with special emphasis in the investigation of the human genome in medical research and practice. The lectures of this course will focus on issues such as introduction to human chromosomes, culture preparation and analysis of chromosomes, chromosomal disorders and syndromes, pre-natal and postnatal chromosomal analysis, laboratory methodologies in cytogenetics, cytogenetics in clinical practice, cancer cytogenetics, chromosomal anomalies in leukaemias, lymphomas and solid tumors, international nomenclature of cytogenetics, introduction in medical genomics, genomic disorders and molecular mechanism of their development, bioinformatics in the analysis of human genome, laboratory methodologies and technologies in human genomics and investigation of human genome for research and diagnostic purposes. The course will include lectures and referrals in bibliography.
The course of Methodologies and technologies applied in Medical Genetics (MTAMG) will consist of lectures, laboratory demonstrations for some lectures and literature studies. Each lecture will be focused on one major method or a group of methods that are applied in Medical Genetics with relevant application examples. Methodology and technology to be covered includes: nucleic acids extraction from various tissues, amplification of nucleic acids by PCR, restriction enzyme analysis, gel electrophoresis, Southern blotting, DNA sequencing, DNA repeats analysis, MLPA analysis, DHPLC analysis, DGGE analysis, SSCP analysis, SNP analysis, Real Time PCR, analysis of single cells, Northern blotting, Western blotting, microarray technology, linkage analysis, linkage disequilibrium and association analysis, chromosomal analysis and cell cultures.
The course will cover the biochemical aspects of genetic diseases, i.e. how mutations affect the structure and function of proteins and how this contributes to the pathogenesis of genetic diseases. Representative disorders that illustrate how genetic defects in different classes of proteins disrupt cell and organ function will be described. The relationship between a molecular defect and the resulting clinical pathology will also be examined. Special emphasis will be given to inherited metabolic disorders which constitute the focus of the rapidly expanding field of human biochemical genetics. Approximately one thousand inborn errors of metabolism have been identified to date, primarily through the detection of endogenous metabolites abnormally accumulated in biological fluids and tissues. The majority of these disorders are the result of an enzyme deficiency. The clinical, biochemical and molecular features of inborn errors of metabolism will be covered and the diagnostic strategies employed will be discussed. Moreover, the most important biochemical techniques currently used in the diagnosis and monitoring of inborn errors of metabolism will be introduced, including HPLC, GC/MS and MS-MS.
The course Molecular Basis of Monogenic Diseases is aimed at postgraduate students of biology and medical genetics and reviews all key aspects of the field of monogenic (or: single-gene) disorders. Individually, monogenic diseases 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 the use of genetic model organisms and bioinformatics. Attention will also 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 and epigenetic modifiers.
The course covers the causes of monogenic diseases and details the pathophysiological mechanisms for exemplary disorders, with an emphasis on universal principles and state-of-the-art techniques. Students passing this course will have obtained:
1. A firm grasp of pertaining principles of molecular biology and medical genetics.
2. An overview over principle monogenic disease types, pertaining pathophysiologies and current and future therapies
3. A working knowledge of preventative and diagnostic strategies
4. Awareness of resources and tools in the research and clinical study of monogenic diseases
5. In-depth understanding of exemplary monogenic diseases and of the development of complex disease symptoms from simple causes
6. The ability to critically assess research results in the field, to evaluate alternative diagnostic and therapeutic approaches and to propose original research of their own
Complex diseases are common disorders that develop as a result of interactions of multiple genes with each other, as well as with the environment. This lecture course will discuss the current methodological as well as conceptual applications that are being employed in investigating the genetic basis of complex diseases such as cancer, diabetes, cardiovascular and neurological disorders. A number of study designs past and present, which couple epidemiology and genetics, including family based linkage analysis, candidate gene approaches and genome wide association studies (GWAS), will be critically reviewed. Special attention will be given to the identification of specific gene effects, using techniques such as sequencing, haplotype analysis, SNP tagging, and to the application of robust methods for quantifying the strength of genetic variation to disease risk.
Results from already completed as well as ongoing studies will be presented and discussed. The field of human complex disease genetics is currently undergoing major transformation due to rapid technological developments coupled to the availability of larger sample sizes and better understanding of human genome sequence variation. These new developments will be at the centre of presentations and discussions in this course.
The purpose of the course is to provide a foundation and a stimulus for the understanding of structure and function of the nervous system. It will also provide the student basic knowledge on some of the methodologies used by different disciplines to study the nervous system.
The Neuroscience course is intended to cover various aspects of the biology of the central nervous and neuromuscular systems and to provide a framework that will enable the student to integrate information generated from a number of disciplines in this rapidly expanding area of science. Great emphasis will be given on correlating basic scientific principles to disease causation in the nervous system. The course will cover the anatomy and functional organization of the nervous system at macroscopic and cellular level. Important evolutionary cell processes such as cell differentiation and programmed cell death (apoptosis) will be covered early on followed by cell physiology including intracellular signaling and neurotransmission. The physiology of the motor, the sensory and autonomic systems and Cognition will form the basis of understanding the norm before proceeding to enter the realm of diseases affecting the nervous system. The course will cover various tools used to dissect disease including neurophysiology, neuropathology, neurogenetics, epigenetics and basic techniques in molecular biology. In the last part of the course a wide spectrum of neurological disease, covering the whole neuraxis, will be considered in an attempt to provide the student with an opportunity to really comprehend and apply important concepts in neuroscience.
The course of Gene and Cell Therapy (GCT) will include the main aspects of the fields of Gene and Cell therapy. The majority of diseases, inherited or acquired later in life can be can valid candidates for genetic or cell therapy. To date, several and various approaches towards this destination have been attempted. Some of these attempts have been tested in patients in clinical trials; however the majority is at the research pre-clinical stage since both Gene and Cell Therapy are recent fields. During the course of Gene and Cell Therapy, specific examples of diseases where gene or cell therapy is applicable will be presented. Moreover, special emphasis will be given to the types of gene delivery vehicles. Viral vectors will be presented and their uses in various therapeutic approaches will be mentioned. Non-viral vector will also be discussed, as means to deliver nucleic acids. Genetic tools such as regulatory RNA sequences which can be delivered or expressed endogenously in order to interfere and repair defective gene expression in diseases will be also discussed. Finally, cellular therapies will be discussed and examples where they have been used successfully will be presented.
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, all needed for further career in neuroscience research. The CMN 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 compulsory focused school-wide short workshops.
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 offered at CSMM 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 be also 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 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 knowledge in virology and immunology.