The Genetic Basis of Neurological Disorders

Transcription

1 The Genetic Basis of Neurological Disorders A complete advanced undergraduate/graduate course with: 22 online lectures by leading authorities Resources for workshops, tutorials, journal clubs, projects and seminars Suggested exam questions and model answers Multiple choice questions and answers Recommended reading: original papers and review articles A complete module ideally suited for flipped learning* Suitable for loading into Moodle and other online learning systems Available now for universities, colleges and medical schools. For an animated, online presentation of the course CLICK HERE. *The material is well suited for the increasingly popular Flipped-Classroom course format, in which students attend lectures online and subsequently meet in class for a tutorial that supports active learning.

2 Introduction From the Chairman Neil Bradman DPhil Chairman, Henry Stewart Talks Ltd I am pleased that we are now making available as part of The Biomedical and Life Sciences Collection (TBLSC) complete course modules consisting of animated audio-visual lectures and supporting learning material containing: suggestions for projects, workshops and tutorials; recommended reading (research papers, review articles and book chapters); multiple choice questions and suggested exam questions with bullet points of model answers. This material will support your faculty s use of the module when arranging seminars, journal clubs, laboratory exercises, data workshops, online tests and end of course examinations. Each module is designed to support local faculty in the provision of a comprehensive course at graduate or advanced undergraduate level. They are also suitable for continuing professional development/education programmes. This brochure provides brief details of the module on The Genetic Basis of Neurological Disorders including the lectures, lecturers and additional learning material. A fully loaded Moodle online learning system, containing the entire course, is available to faculty members at bona fide universities, colleges and medical schools on application to Steven Fox at steven@hstalks.com At a time when faculty and staff face ever greater demands (both monetary and time) we are confident that these lectures and additional learning material will be of great help when preparing and delivering graduate and advanced undergraduate courses. The Genetic Basis of Neurological Disorders Page 2

3 Module Summary Module Summary Editors Prof John Hardy FRS, University College London, UK Dr Patrick Lewis University of Reading, UK Neurological diseases represent one of the gravest challenges to humans in the 21st century, with the prevalence of disorders such as Alzheimer s and Parkinson s increasing as populations age across the globe. Over the past thirty years, huge progress has been made in understanding how genetics can influence the onset of neurological diseases - from dominant Mendelian inheritance through to common genetic variability enhancing lifetime disease risk. This course summarizes our current understanding of the genetics of neurological disorders, providing a detailed grounding in how clinical symptoms and pathology match up to genetic background. For each neurological disease covered, a state-of-the-art report is included on the molecular mechanisms linking disease loci to the cellular etiology of the disorder. This will be complemented with lectures on how the latest genomic and proteomic approaches are helping us develop novel therapeutic avenues of inquiry, with the aim of producing drugs to slow down the degenerative process in these disorders, while highlighting the huge challenges that face the biomedical research community in this area of drug development. This course module is designed for: Researchers and graduate students in the fields of neuroscience, genetics and genetic counselling Researchers and decision makers in the pharmaceutical industry Clinicians and medical students Advanced undergraduate students Continuing Professional Education/ Development The Genetic Basis of Neurological Disorders Page 3

4 Course Materials Course Materials 22 specially recorded, online, animated lectures by world leading authorities Prof. John Hardy FRS Neurodegenerative Disease: The Medical Imperitive for the Developed World Prof. Nicholas Wood Galton Professor of Genetics Dept. of Molecular Neuroscience Genetic Basis of Neurological Disease Dr. Jose Bras Neurogenetics Group Dept. of Molecular Neuroscience Genetic Methods in the Study of Neurological Diseases Dr. Tammaryn Lashley Research Fellow Queen Square Brain Bank An Overview of the Neuropathology of Neurodegenerative Diseases Dr. Patrick A. Lewis Associate Professor in Cellular and Molecular Neuroscience School of Pharmacy University of Reading Deciphering Neurodegeneration: Models and Methods Dr. Alastair Noyce Specialist Registrar in Neurology London Deanery Parkinson s UK Doctoral Research Fellow Project Lead for PREDICT-PD Dr. Hélène Plun-Favreau Senior Lecturer Deciphering Neurodegeneration: Models and Methods Autosomal Recessive Parkinson s Disease and Mitophagy Dr. Patrick A. Lewis Associate Professor in Cellular and Molecular Neuroscience School of Pharmacy University of Reading Cellular Pathways Linked to Dominant Parkinson s Disease Dr. Rita J. Guerreiro Dept. of Molecular Neuroscience Alzheimer s Disease: Current status of genetics research The Genetic Basis of Neurological Disorders Page 4

5 Course Materials Prof. John Hardy FRS The Genetics of Frontotemporal Dementia Prof. Mary M. Reilly MRC Centre for Neuromuscular Diseases Queen Square, London, UK Inherited Neuropathies Prof. Sarah Tabrizi Faculty of Brain Sciences Huntington s Disease and HD-like Disorders Prof. Sanjay Sisodiya Professor of Neurology Dept. of Clinical and Experimental Epilepsy Genetics of Epilepsy Dr. Stephanie Schorge Royal Society University Research Fellow Dept. of Clinical and Experimental Epilepsy Functional Insights from Genetic Channelopathies Dr. Rohan de Silva Reta Lila Weston Institute The Genetics of Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD) Dr. Pietro Fratta National Hospital for Neurology and Neurosurgery Pathogenesis and Cell Biology of Amyotrophic Lateral Sclerosis (ALS) Dr. Paola Giunti Principal Clinical Research Associate National Hospital for Neurology and Neurosurgery The Inherited Ataxias Dr. Arianna Tucci Clinical Research Fellow Genetics of Hereditary Spastic Paraplegia Prof. Tom Warner Reta Lila Weston Institute The Genetic Basis of Dystonia Prof. Giovanna Mallucci MRC Toxicology Unit University of Leicester Pathogenic Mechanisms in Prion Disease Dr. Alan Pittman Faculty of Brain Sciences Next Generation Sequencing in Genetic Diagnosis Prof. Henrik Zetterberg The Sahlgrenska Academy at the University of Gothenburg, Sweden and Biomarkers of Neurodegeneration The Genetic Basis of Neurological Disorders Page 5

6 Example content Tutorials The Genetic Basis of Neurological Disorders Page 6

7 Exam Questions and Model Answers Related to The Genetic Basis of Dystonia Related to The Inherited Ataxias The Genetic Basis of Neurological Disorders Page 7

8 Multiple-choice questions and answers From the lecture on Early Clinical Features of Parkinson s Disease and Related Disorders From the lecture on Autosomal Recessive Parkinson s Disease (PD) and Mitophagy Recommended reading supporting each lecture: Original research papers and review articles to support journal clubs and seminars The Genetic Basis of Neurological Disorders Page 8

9 What to do now Immediately available on licence to bona fide universities, colleges and medical schools. To examine the entire course in Moodle, be sent a full copy of all the learning material in pdf or acquire a licence please send an to Mr Steven Fox at steven@hstalks.com confirming your university, college or medical school affiliation. For institutions with an existing licence to The Biomedical and Life Sciences Collection the licence fee is $1,000pa. For other institutions it is $2,000pa. On receipt of an order we shall invoice you or your institution as you request. (VAT will be added if appropriate depending on the country in which your institution is located.) If you would like the additional learning materials sent to you as a Moodle file ready to upload please make this request. If you use another online learning system (OLS) it may be possible, depending on the system you use, to send you a file configured for immediate uploading. Please let us know which OLS, if any, you use. In any event you may on purchase of a licence request the additional learning material as a Word document from which you may cut and paste any of the elements. All lectures are available online to which, on grant of a licence, your institution will have unlimited access. Licences will only be granted on the application of a faculty representative applying on behalf of an institution to which they are affiliated. The Genetic Basis of Neurological Disorders Page 9