DOCSLIB.ORG

Multidisciplinary Approach to the Study of the Brain: the Basics of Neurogenetics, Neurophysiology, Behavior Neurobiology” for Masters Programme in Psychology

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Multidisciplinary Approach to the Study of the Brain: the Basics of Neurogenetics, Neurophysiology, Behavior Neurobiology” for Masters Programme in Psychology SYLLABUS of “Multidisciplinary approach to the study of the brain: the basics of neurogenetics, neurophysiology, behavior neurobiology” for Masters Programme in Psychology. 5 ECTS Credits Course description “Multidisciplinary approach to the study of the brain: the basics of neurogenetics, neurophysiology, behavior neurobiology”. Course description This course develops and applies skills to make out and analyze brain activity and its correlation with some psychological and biological aspects of personality. In this course students are going to study the biological foundations of psychological processes and individual differences, the brain mechanisms of higher mental functions, the associations between genes, psychological traits and behavior. In the process of studying the discipline, students will become familiar with the natural science research paradigm in psychology, with modern neurobiological, neurogenetic, neurophysiological discoveries and concepts. The design of the course aims to maximize students’ transferable skills, including doing the reading assignments, training in academic writing for scientific journals, preparation for speaking at the scientific conferences, and translating research to practice. The content of the course is based on modern studies of the brain. Recommended previous course Psychophysiology and neurophysiology (basic course), genetics (basic course), common psychology (basic course), psychology of individual differences (basic course). Recommended previous skills and techniques Practice in electroencephalography, article reviews, critical thinking. After completing the course, the students are expected to be able to: - understand the genetic, physiological basics of higher mental functions, behavior and personality; - use the modern research tools in brain studies; - use the modern research methods in brain studies (EEG, ERP, GWAS etc.); - explain the empirical data of brain researches; - create and put inti practice the research design of brain study. Teaching methods • Lecture • EEG lab session/practical training • Oral presentation • Self-study • Colloquium Course structure. This course consists of 18 lectures, 54 practical classes, including seminars in laboratory of cognitive psychophysiology. SFU has a modern research infrastructure (e.g., EEG- amplifier, eye-tracker, biofeedback system etc.). During practical classes of this course students will use this tools, modern scientific (EEG, VEP) and statistic methods (GWAS). The grade consists mostly of written examination, including theoretical and practical parts (creating the design of research, statistical processing of EEG data, GWAS etc.). After the successful completion, the students will gain 5 credits. Course content № Subject Assignments Duration (in hours) 1. Neurogenetics Colloquium, oral 18 Morphological basis of neurogenetics. presentation, test Genetic bases of the nervous system in phylogenesis and ontogenesis Models and mechanisms of neural induction Regionalization of the nervous system. Genetic basis of neurogenesis Molecular-genetic mechanisms of mental processes Genetic and molecular aspects of behavior in norm and pathology. Genes of brain factors and neurotransmitter systems, their contribution to the formation of psychophysiological and psychological characteristics. Analysis of the genes’ associations with the psychological characteristics of people. Genome- wide data analysis GWAS. The possibilities of using twin, molecular-genetic methods, as well as genome-wide data analysis in psychology and neuroscience. 2. Neurophysiology of behavior Colloquium, 18 The nature of the total bioelectric activity of the design of the brain. Electrographic correlates of brain research, test information processes. The doctrine of coding information in the central nervous system. Theories of neural ensembles of the brain. EEG correlates of human functional status Methodological features of registration and analysis of the total electrical activity of the human brain Markers of background (spontaneous) brain activity, reflecting the individual typological characteristics of people Components of evoked brain activity, reflecting the individual typological characteristics of people The use in psychology and cognitive neuroscience of the methods of dipole analysis, as well as low-resolution tomography (Loreta) in order to determine the localization of sources of evoked brain activity. The use of neuroimaging methods in psychology and cognitive neuroscience. 3. Neurobiology of behavior Colloquium, article 18 The methodology of the approach and the main review, test directions of neurobiological research. Cellular basics of neurobiology. The chemical basis of neurons’ communication. Hypothesis of polygenesis of mediators. The molecular nature of synaptic transmission. Genetic and molecular foundations of brain plasticity. Distribution of functions in the nervous network. Command neurons. Principles of decision making in the nervous network. Trigger and modulate behavior. Modulatory neurons as a functional class. Cyclical reflex acts. Organization of the motor program of cyclic acts. Behavior selection and behavior switching. The hierarchy of forms of behavior. Command neuron, command function. Neurochemical mechanisms of switching behavior. Addressed and unaddressed release of mediators. The simplest forms of plasticity of behavior. The relationship of addiction and sensitization. Cognitive Neurobiology. Neural mechanisms of short-term and long-term forms of addiction and sensitization. Associative forms of plasticity of behavior. The conditioned reflex (SD) and behavior. Complex forms of learning. The emergence, storage and reproduction of acquired forms of behavior. The reversibility of learning and the irreversibility of development. Neural correlates of conditioned aversive reactions. Morpho-functional foundations of behavior. Ontogenetic development of neural networks and behavior. Memory and development. Localization of plastic changes in the development of SD Neurogenetic studies of the mechanisms of brain plasticity. The role of early genes. Ontogenesis, development and memory. Plasticity of behavior in ontogenesis. Relationships between network functioning, representation, consciousness and other cognitive processes Advanced cognitive neurobiology: consciousness and perception, multisensory integration, oscillatory networks, human invasive electrophysiology Cultural neurobiology, cultural neuroscience. 4. Interdisciplinary approach to the study of the Individual Task, 18 nature of mental phenomena. Test Interdisciplinarity in modern neurosciences: psychology, genetics, physiology of higher nervous function. Trends in modern research in neuroscience. Computer models of neural networks The problem of neurodegenerative diseases from the perspective of an interdisciplinary approach. An interdisciplinary approach to neurorehabilitation. BCI systems. Neurointerfaces and neurotechnologies. Anthropomorphic robots and exoskeletons, the mechanisms of their device and use in neurorehabilitation and the service sector. Brainfitness and neurogaming. Neuronet and neurocommunications. Individual Task grading is intended to show you how well you are progressing in learning the course material. Individual Task is due at the beginning of class time on the due date. Literature 1. Adolphs, R. (2001). The neurobiology of social cognition. Current opinion in neurobiology, 11(2), 231-239. 2. Adolphs, R. (2001). The neurobiology of social cognition. Current opinion in neurobiology, 11(2), 231-239. 3. Benjamin, D.J., et al. (2012). The promises and pitfalls of genoeconomics. Annual Review of Economics, 4(1), 627–662. 4. Bulik-Sullivan, B., et al. (2015). LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nature Genetics, 47(3), 291-295. 5. Dishman, R. K., Berthoud, H. R., Booth, F. W., Cotman, C. W., Edgerton, V. R., Fleshner, M. R., ... & Kramer, A. F. (2006). Neurobiology of exercise. Obesity, 14(3), 345-356. 6. Evans, L.M. et al. (2018). Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits. Nature Genetics, 50, 737-745. 7. Gazzaniga et al., The Biology of the Mind, Norton & Co. (latest edition) 8. Johnston D., Wu S. M. S. Foundations of cellular neurophysiology. – MIT press, 1994. 9. Kandel et al., Principles of Neural Science, McGraw-Hill (latest edition) 10. Korte, A., & Farlow, A. (2013). The advantages and limitations of trait analysis with GWAS: a review. Plant methods, 9(1), 29. 11. Pennartz, C. M. (2015). The brain's representational power: on consciousness and the integration of modalities. MIT Press. 12. Rao M. S., Jacobson M. (ed.). Developmental neurobiology. – Springer Science & Business Media, 2006. 13. Schmidt R. F. et al. Fundamentals of neurophysiology. – Springer Science & Business Media, 2012. 14. Shepherd G. M. Neurobiology. – Oxford University Press, 1988. 15. Visscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J. (2012). Five years of GWAS discovery. The American Journal of Human Genetics, 90(1), 7-24. 16. Visscher, P. M., Wray, N. R., Zhang, Q., Sklar, P., McCarthy, M. I., Brown, M. A., & Yang, J. (2017). 10 years of GWAS discovery: biology, function, and translation. The American Journal of Human Genetics, 101(1), 5-22. 17. Visscher, P.M., Hill, W.G., Wray, N.R. (2008). Heritability in the genomics era — concepts and misconceptions. Nature Review .
Load more

Recommended publications
  • The Neurogenetics of Group Behavior in Drosophila Melanogaster Pavan Ramdya1,*, Jonathan Schneider2,* and Joel D
    © 2017. Published by The Company of Biologists Ltd | Journal of Experimental Biology (2017) 220, 35-41 doi:10.1242/jeb.141457 REVIEW The neurogenetics of group behavior in Drosophila melanogaster Pavan Ramdya1,*, Jonathan Schneider2,* and Joel D. Levine2,* ABSTRACT that are ripe for neurobiological investigation: the formation of Organisms rarely act in isolation. Their decisions and movements are social networks and the regulation of collective behavior. often heavily influenced by direct and indirect interactions with conspecifics. For example, we each represent a single node within a Social networks social network of family and friends, and an even larger network of In animal groups, individuals can be drawn toward or away from one strangers. This group membership can affect our opinions and another for a variety of reasons. For example, long-lasting bonds actions. Similarly, when in a crowd, we often coordinate our may exist between family members. On shorter time scales, movements with others like fish in a school, or birds in a flock. individuals may be sexually attracted to one another, or to Contributions of the group to individual behaviors are observed environmental resources such as food patches (Ramos-Fernández across a wide variety of taxa but their biological mechanisms remain et al., 2006). Individuals may also avoid one another because of largely unknown. With the advent of powerful computational tools social or sexual competition, or to maintain a comfortable distance as well as the unparalleled genetic accessibility and surprisingly from their neighbors (Simon et al., 2011). The process of satisfying rich social life of Drosophila melanogaster, researchers now have a these opposing forces gives rise to a dynamic group-level structure unique opportunity to investigate molecular and neuronal called a social network (Kossinets and Watts, 2006).
    [Show full text]
  • Computational Neurogenetics
    Journal of Theoretical and Computational Nanoscience, vol.1 (1) American Scientific Publisher, 2004, in print Computational Neurogenetics ∗ Nikola Kasabov ∗∗ and Lubica Benuskova Knowledge Engineering and Discovery Research Institute School of Information Technology Auckland University of Technology Auckland, New Zealand Address: AUT Technology Park, 581-585 Great South Road, Penrose, Auckland, New Zealand Phone 64 9 917 9506 Fax 64 9 917 9501 Emails: [email protected]; [email protected] WWW: http://www.kedri.info ∗ The author to whom correspondence regarding the manuscript should be directed. 1 Journal of Theoretical and Computational Nanoscience, vol.1 (1) American Scientific Publisher, 2004, in print Abstract The aim of the paper is to introduce the scope and the problems of a new research area called Computational Neurogenetics (CNG), along with some solutions and directions for further research. CNG is concerned with the study and the development of dynamic neuronal models integrated with gene models. This area brings together knowledge from various science disciplines, such as computer and information science, neuroscience and cognitive study, genetics and molecular biology. A computational neurogenetic model is created to model a brain function or a brain disease manifestation, or to be used as a general mathematical model for solving complex scientific and engineering problems. The CNG area goes beyond modelling simple relationship between a single gene and a single neuronal function or a neuronal parameter. It is the interaction between hundreds and thousands of genes in a neuron and their relationship with the functioning of a neuronal ensemble and the brain as a whole (e.g., learning and memory, speech and vision, epilepsy, mental retardation, aging, neural stem cells, etc.).
    [Show full text]
  • Neurochemistry & Metabolic Test Request Form
    5424 Glenridge Drive NE Neurochemistry & Metabolic Atlanta, GA 30342 USA toll-free: 678.225.0222 Test Request Form fax: 678.225.0212 mnglabs.com We gladly accept deliveries Monday-Saturday, excluding holidays CLIA License #11D0703390; CAP License #1441004; State of Georgia License #060-381 Patient Name DOB STAT Testing Now Available For STAT Testing, please see page 4. Metabolic CSF (MET01) Amino Acids (NC04) Neurotransmitter Metabolites (NC07) Sialic Acid [Disorders with Hypomyelination of Unknown Etiology/ (MET07) Lactate (5HIAA, HVA, 3OMD) [Includes Biomarkers for Pyridoxine Responsive Seizures] Sialic Acid Storage Disorders] (MET11) Pyruvate* (NC05) Pyridoxal 5’-phosphate (NC08) Alpha-Aminoadipic (NC01) 5-Methyltetrahydrofolate [Pyridox[am]ine Phosphateoxidase Deficiency + Semialdehyde [Pyridoxine-Responsive Seizures] (NC02) Neopterin [Marker for CNS CNS Pyridoxal 5’-phosphate Deficiency] Immune System Stimulation] (NC09) 4-Hydroxybutyric Acid (NC06) Succinyladenosine [Succinic Semialdehyde Dehydrogenase (NC03) Neopterin/Tetrahydrobiopterin [Adenylosuccinate Lyase Deficiency] Deficiency] (NC10) Glucose [Glucose Transporter Deficiency] Blood & Muscle (MET02) Amino acids (Plasma) (MET08) Lactate (Plasma) (MET23) Creatine & Guanidinoacetate (MET04) Coenzyme Q10 Level (MET09) Phenylalanine Loading (Plasma) (Leukocytes) Assay (Plasma) (MET24) Glucose (Plasma) (MET05) Coenzyme Q10 Level (MET10) Pyruvate* (Blood) (MET29) 3-O-Methyldopa (Plasma) (Muscle) (MET12) Thymidine/Deoxyuridine [Specific Marker for Aromatic L-Amino Analytes (Plasma)
    [Show full text]
  • Neurogenetics FRIDAY OCTOBER 27, 2017
    Department of Neurology Fall Symposium: Neurogenetics FRIDAY OCTOBER 27, 2017 https://bit.ly/2fNFmBZ Check in begins at 7:30am Damasio Conference Room University of Iowa Hospitals and Clinics Elevator C, Level 7 PROVIDED BY INTENDED AUDIENCE University of Iowa Health Care Department of Neurology Neurologists, Healthcare Providers, Allied Health, Resi- University of Iowa Roy J. and Lucille A. Carver College of Medicine. dents (current and Former), Fellows, & Students GENERAL INFORMATION OBJECTIVES Upon completion of this program the learner should be able to: • Identify neurogenetic disease of the brain, spinal cord, nerve, and muscle • Utilize the current standards of care for managing these disorders • Describe how to diagnose and differentiate these disorders in a rational manner • Discuss the clinical presentation and management of genetic diseases of the brain, spinal cord, nerve and muscle • Explain advances in translational science for these neurogenetic disorders • Review the underlying etiologies for these disorders and approaches to treatment • Evaluate patients and families with neurogenetic conditions Welcome Reception REGISTRATION A welcome reception will be held Thursday Thanks to several sponsors this years October 26th from 7-9 at the Share Wine Lounge hile symposium is free for all attendees. W & Small Bistro at the Sheraton Iowa City Hotel. registration is open until the start of the conference, we encourage early registration to enable us to provide the Parking best possible service. Parking is available in the hospital
    [Show full text]
  • Psychiatric Genetics, Neurogenetics, and Neurodegeneration
    EDITORIAL published: 14 January 2015 doi: 10.3389/fgene.2014.00467 Psychiatric genetics, neurogenetics, and neurodegeneration Berit Kerner* Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA *Correspondence: [email protected] Edited and Reviewed by: Valerie Knopik, Rhode Island Hospital, USA Keywords: risk gene identification, functional genomic variants, social epigenetics, heterogeneity, pleiotropy, amyotrophic lateral sclerosis (ALS), genome-wide association studies (GWAS), environmental exposure Neuropsychiatric disorders are common, complex, and severe observation that variations in the same gene can influence several disorders that affect the core of a person: their emotions, intel- seemingly unrelated phenotypic traits. Heterogeneity describes lect, and ability to self-regulate. Millions of individuals world- the observation that the same disease can be caused by genetic wide suffer from these disorders; nevertheless, the factors that variationinanyoneofanumberofgenes.Theauthorsalsohigh- lead to the manifestation of symptoms are poorly understood. light recent successes in risk gene identification that were brought Neuropsychiatric disorders are characterized by heterogeneity, about with the help of next-generation sequencing in combi- which means that disorders with similar symptoms and disease nation with linkage studies and/or functional studies in small course do not necessarily share the same disease mechanisms or animals and cell cultures. Sequeira et al. explore
    [Show full text]
  • Genetic Changes Shaping the Human Brain.Pdf
    Developmental Cell Review Genetic Changes Shaping the Human Brain Byoung-Il Bae,1 Divya Jayaraman,1 and Christopher A. Walsh1,* 1Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children’s Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA *Correspondence: [email protected] http://dx.doi.org/10.1016/j.devcel.2015.01.035 The development and function of our brain are governed by a genetic blueprint, which reflects dynamic changes over the history of evolution. Recent progress in genetics and genomics, facilitated by next-gener- ation sequencing and single-cell sorting, has identified numerous genomic loci that are associated with a neuroanatomical or neurobehavioral phenotype. Here, we review some of the genetic changes in both pro- tein-coding and noncoding regions that affect brain development and evolution, as well as recent progress in brain transcriptomics. Understanding these genetic changes may provide novel insights into neurological and neuropsychiatric disorders, such as autism and schizophrenia. All life forms develop, reproduce, and age based on their genetic changes affecting the development and evolution of the human blueprint. The human genetic blueprint is written in approximately neocortex. three billion base pairs (bp) and contains protein-coding genes (estimated at 21,000 or fewer), RNA genes (e.g., microRNAs,
    [Show full text]
  • Contents Editorial Commentaries Cognition Migraine Neuromuscular Neurogenetics Neurodegeneration
    May 2021 Volume 92 Issue 5 92 Impact 5 Factor 8.263 JOURNAL OF Volume 92 Volume Contents Volume 92 Issue 5 | JNNP May 2021 Issue 5 N eu rology Pages 457–569 Pages Neurosurgery & Psychiatry JOURNAL OF NEUROLOGY NEUROSURGERY & PSYCHIATRY NEUROSURGERY OF NEUROLOGY JOURNAL Editorial commentaries Neurodegeneration J Neurol Neurosurg Psychiatry: first published as on 1 May 2021. Downloaded from 457 It is safe to switch therapy from interferon beta 485 Plasma microRNA signature in presymptomatic or glatiramer acetate to oral therapy in patients and symptomatic subjects with C9orf72- with relapsing multiple sclerosis with stable associated frontotemporal dementia and May 2021 May disease amyotrophic lateral sclerosis jnnp.bmj.com N Koch-Henriksen V Kmetzsch, V Anquetil, D Saracino, D Rinaldi, A Camuzat, T Gareau, L Jornea, S Forlani, P Couratier, D Wallon, F Pasquier, N Robil, Editor 458 Plasma microRNA signature as biomarker Matthew C Kiernan (Australia) for disease progression in frontotemporal P de la Grange, I Moszer, I Le Ber, O Colliot, E Becker, The PREV-DEMALS study group Deputy Editors dementia and amyotrophic lateral sclerosis Karen L Furie (USA) R Dewan, B J Traynor Satoshi Kuwabara (Japan) 494 Modelling the cascade of biomarker changes in Lawrence Wong (China) GRN-related frontotemporal dementia Associate Editors 459 Fashion focus: neurosurgery for tremor J L Panman, V Venkatraghavan, E L van der Ende, Alan Carson (UK) L Zrinzo Nick Ward (UK) R M E Steketee, L C Jiskoot, J M Poos, Peter Warnke (USA) E G P Dopper, L H H Meeter, L Donker
    [Show full text]
  • Genetic Mimics of Cerebral Palsy
    REVIEW Genetic Mimics of Cerebral Palsy Toni S. Pearson, MBBS,1* Roser Pons, MD,2 Roula Ghaoui, MBBS, FRACP, PhD3 and Carolyn M. Sue, MBBS, FRACP, PhD4* 1Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA 2First Department of Pediatrics, National and Kapodistrian University of Athens, Aghia Sofia Hospital, Athens, Greece 3Department of Neurology, Royal Adelaide Hospital, Adelaide, South Australia, Australia 4Department of Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, St Leonards, NSW, Australia ABSTRACT: The term “cerebral palsy mimic” is used to possibility of a cerebral palsy mimic, provide a practical describe a number of neurogenetic disorders that may pre- framework for selecting and interpreting neuroimaging, sent with motor symptoms in early childhood, resulting in a biochemical, and genetic investigations, and highlight misdiagnosis of cerebral palsy. Cerebral palsy describes a selected conditions that may present with predominant heterogeneous group of neurodevelopmental disorders spasticity, dystonia/chorea, and ataxia. Making a precise characterized by onset in infancy or early childhood of diagnosis of a genetic disorder has important implications motor symptoms (including hypotonia, spasticity, dystonia, for treatment, and for advising the family regarding prog- and chorea), often accompanied by developmental delay. nosis and genetic counseling. © 2019 International The primary etiology of a cerebral palsy syndrome should Parkinson and Movement
    [Show full text]
  • AMAZING PAPERS in NEUROSCIENCE Sparse Neural Representation of Odor Predicts Learning
    The Journal of Undergraduate Neuroscience Education (JUNE), Fall 2020, 19(1):R1-R3 AMAZING PAPERS IN NEUROSCIENCE Sparse Neural Representation of Odor Predicts Learning James McManus* ‡ * School of Psychology and Neuroscience, University of St Andrews, St Andrews, UK, KY16 9JP; ‡ Present address: Department of Biomedical Science, The University of Sheffield, Sheffield , UK, S10 2TN. The way in which neurons encode information remains a activated) can correspond to the ability to learn a sensory hotly debated topic in neuroscience. Lin and colleagues in discrimination more easily. From a research perspective, a 2014 article in the journal Nature Neuroscience this paper was important as it was the first causal demonstrate how sparse coding in the olfactory learning and demonstration of the role of sparseness in learning. From a memory center of Drosophila can influence learning teaching point of view, this paper is valuable because it is a behavior. Coding sparsity is the idea that only a small simple but effective introduction to artificial neural network number of neurons in a network represent any given theory, where both the abstract theory and the importance stimulus. Using neurogenetics, computational of its application is apparent to those without a mathematical neuroscience, and cognitive approaches, they outline the or computational background. discovery of an inhibitory feedback circuit responsible for differentiating the neuronal response to different odors. Manipulating this feedback circuit, they demonstrate how Key words: cognitive neuroscience; insect cognition; the sparseness in neural networks (how easily neurons are sparse coding; computational neuroscience In 2014, Lin and colleagues published an article that Albus noted that pattern recognition in perceptrons could demonstrates how a concept from artificial neural networks, be made more powerful by restricting how many of the sparse coding, applies to empirical neuroscience research.
    [Show full text]
  • An Introduction to Neurogenetics
    An Introduction to NeuroGenetics Dave Shahani MD Child Neurology PGY-5 University of New Mexico February 2016 No Conflicts of Interest Don’t know what it is… send a genetic test! An estimated 30-40 % of genetic tests in the US are ordered or interpreted incorrectly There are over 1,000 different genetic tests in use Genetics tests are complex and $$$$ Why should we test? Molecular Medicine = Personalized Medicine Diagnosing the previously unknown Pharmacogenomics Cancer prognostics Family planning Objectives Brief history of genetic testing Review DNA Basics Resources beyond Dr Google Types of testing methods Considerations before ordering How to order genetic tests "He who asks a question is a fool for five minutes; he who does not ask a question remains a fool forever." - Chinese proverb Chromosomal Microarray Clinically Available 2006 Whole Exome Sequencing Clinically Available Walther Flemming 2011 1882 13 years ago… • The Human Genome Project – Completed in 2003 after 13 years of research – Identified about 25,000 genes • Now estimated to have 35,000 genes – Cost: $ 2.7 billion • The International HapMap Project – First completed in 2005 – Haplotype – a set of genes that are closely linked and tend to be inherited together DNA Basics Deoxyribonucleic Acid Transcription & Translation Interesting Numbers Nuclear DNA – The human genome contains 3.2 billion nucleotide pairs – Only 1.5 % encode proteins ! – Little is known about the rest Mitochondrial DNA – 16,600 nucleotide pairs – Codes for 37 genes – Over 100 nuclear genes necessary for mitochondrial function Types of DNA Mutations Insertion Frameshift Deletion Missense Point Mutations Nonsense Duplication Repeat Expansions And more ?? Case A family of 5 come to your clinic for genetic counseling .
    [Show full text]
  • American Academy of Neurology Neurogenetics Fellowship Core Curriculum
    AMERICAN ACADEMY OF NEUROLOGY NEUROGENETICS FELLOWSHIP CORE CURRICULUM 1. Introduction Specialists in Neurogenetic Disorders possess specialized knowledge in the science, clinical evaluation and clinical management of genetic diseases of the nervous system. This encompasses knowledge of the pathophysiology, pathology, diagnosis, and treatment of these disorders at a level that is significantly beyond the training and knowledge expected of a general neurologist. 2. Goals and objectives: The goal of fellowship training in neurogenetic disorders is to facilitate the development of neurologists with subspecialty expertise in hereditary diseases of the nervous system. These subspecialists will serve to advance the science and understanding of neurogenetic disorders. They will also provide diagnoses, counseling and care for patients with neurogenetic disorders, and will educate other physicians (including internists, family practitioners, neurology residents, general neurologists), other healthcare personnel, and the public about these disorders. All subspecialists is neurogenetic disorders must acquire expertise in the evaluation and management of patients with hereditary diseases of the nervous system. This includes: · Skill in the interview and examination of patients and families with neurogenetic diseases. · Knowledge of the differential diagnoses for the various clinical presentations of neurogenetic disorders, · Knowledge of patterns of mendelian inheritance and non-mendelian inheritance. · Training in the recognition of common dysmorphologic syndromes. · Knowledge of the appropriate laboratory investigations for diagnosis of neurogenetics disorders, including the sensitivity and specificity of DNA-based tests. · Expertise in the management of a subset of inherited disorders of the nervous system such as inherited ataxias, Huntington disease, inherited neuropathies, etc. · Expertise in counseling patients and at-risk individuals regarding penetrance, expressivity, prognosis, and recurrence risk.
    [Show full text]
  • Neurogenetics Made Easy
    Talk outline • How geneticists can help neuroradiologists • Genetic testing: when, which and why • Genetic testing today Neurogenetics made easy • genome-wide strategies for mutation detection Enza Maria Valente, MD, PhD Dept of Molecular Medicine, University of Pavia • How neuroradiologists can help geneticists Neurogenetics, IRCCS Mondino Foundation • practical examples • the importance of collaboration Whygeneticsisimportant? for patients How geneticists can help improved diagnosis neuroradiologists prognostic indications indications for management and treatment Genetic testing: for families when, which and why assessment of recurrence risks early prenatal diagnosis testing relatives (e.g. carrier testing) new therapies, clinical trials etc… 4 A quick refresh about mendelian inheritance Decision-making flowchart for genetic testing everything that is not acquired (such as infective, toxic, vascular, traumatic Indication to genetic testing etc…) MUST recognize a genetic basis pre-test genetic counselling and informed consent autosomal recessive autosomal dominant two mutated copies of the gene are one mutated copy of a gene is sufficient test selection required to cause the disease to cause the disease healthy heterozygous parents transmit for diseases reducing fitness, the laboratory selection both mutated copies of the gene to mutation usually occurs de novo during 25% offspring parental meiosis Æ sporadic cases GENETIC TESTING horizontal transmission (multiple for diseases non reducing fitness, the affected individuals in one generation) mutation is transmitted vertically from negative or ambiguous results positive results can also present in sporadic cases one affected parent to 50% offspring diagnostic reassessment? implications for management, X-linked further genetic testing? prenatal diagnosis, recessive: hemizygous male patients inherit one mutated copy of a gene on the X research testing? counselling for relatives chrom.
    [Show full text]