Genomics of Common and Rare Inherited Diseases

BIOL67582 Genomics of Common and Rare Inherited Diseases 15 Semester 2 Postgraduate Taught Level 7 Helen Stuart Unit coordinator 1 FHEQ level (Framework for Higher Education Qualifications) ' Masters/Integrated Masters P4 ' European Credit Transfer & Accumulation System Rating : 7.5 This unit aims to develop students' knowledge of common and rare genetic disease. A comprehensive approach is taken to diagnosis, genomic testing, prognosis, management, inheritance and impact across a range of genetic conditions. Scope includes common chromosome, single gene and heterogeneous conditions including, inherited cancer, paediatric and adult-onset disorders.  It also considers the perspective of patients and their families on the role and impact of genomic medicine. Examples of paediatric and adult conditions will be used to illustrate the principles of genomic diagnosis, testing and counselling. Face to face sessions will be taught in one block over three days, to include lectures, problem  based learning, and interactive workshops. This will be augmented by online lectures.              This unit aims to develop students' knowledge of common and rare genetic disease. A comprehensive approach is taken to diagnosis, genomic testing, prognosis, management, inheritance and impact across a range of genetic conditions. Scope includes common, chromosomal, single gene and heterogeneous conditions including inherited cancer, paediatric and adult-onset disorders.  Learning will focus on a case-based approach to ensure relevance to medical genomics.  Examples of paediatric and adult conditions will be used to illustrate the principles of genomic diagnosis, testing and counselling. Face to face sessions will be taught in one block over three days, to include lectures, problem based learning, and interactive workshops. This will be augmented by online lectures.  The underlying genomic basis of a substantial proportion of presumed rare monogenic disorders remains unknown. Whilstommon conditions such as intellectual disability, diabetes, schizophrenia and autism are thought to arise from a complex interplay of genetic and environmental factors but deeper understanding of the genetic and mechanistic basis of these diseases is necessary for clinical translation. The aim of this module is to provide a brief introduction to the clinical presentation and manifestations of rare inherited and common diseases and consider the patient and family perspective with respect to the role and impact of genomics. The module will also focus on the genetic contribution to the aetiology of these conditions and strategies currently used to identify gene alterations in the clinical situation. Students will learn how to identify the most frequently encountered common and rare genetic disease phenotypes and how to select cases with unmet diagnostic need that will benefit from genomic testing. Examine the landscape of common and rare inherited diseases. Demonstrate knowledge of common and rare inherited diseases, including multi-factorial disorders, paediatric genetics, cancer genetics and adult-onset conditions. Explain the genetic architecture of common and rare inherited diseases.  Understand the way genomic testing and other investigations are used in diagnosis and  the importance of phenotyping (e.g. dysmorphic diagnosis, clinical biochemistry, imaging  techniques), in the investigation of candidate pathogenic variants. Understand the use and application of genomic testing and the impact of genetic diagnosis on the patient and family. Be aware of the skill required to identify phenotype, select cases and relevant family information for genomic testing including whole exome/whole genome sequencing.  Appreciate the important of genetic diagnosis in the management and family impact of genetic disease. Interpret clinical, family history and genomic test results to make appropriate diagnosis and accurate genetic risk assessments, in the context of individual clinical situations. Critically analyse and evaluate the relevant scientific literature and apply to clinical situations.  Consider how to interpret information gained from genomic testing with patient information to determine diagnosis, penetrance or prognosis for a number of examples of common and rare inherited conditions.   Use databases and other resources to research up-to-date genetic and clinical information across a range of common and rare genetic diseases.  Think about how to convey clinical and genetic information appropriate to individual clinical needs and level of understanding.  Appreciate the ethical and psychosocial issues to be considered during the process of genetic diagnosis.  Recognise professional boundaries including when to refer on in most complex situations. Learning will focus on a case-based approach to ensure relevance to clinical practice. A  range of formats will be used in both face-to-face and e-learning: 1. Lectures, problem-based learning, case studies and group work.2. e-learning lectures, problem-based learning, case studies and background reading to  enhance face-to-face sessions  1 Written exam 50% 2 Written assignment (inc essay) 30% 7 Oral assessment/presentation 20% Formative and Summative feedback given. MSc Genomic Medicine FT MSc Genomic Medicine FT PGDT Taught Component Mandatory MSc Genomic Medicine FT MSc Genomic Medicine FT (HEE) PGDT Taught Component Mandatory MSc Genomic Medicine PT MSc Genomic Medicine PT PGDT Taught Component Mandatory MSc Genomic Medicine PT MSc Genomic Medicine PT (HEE) PGDT Taught Component Mandatory PG Diploma Genomic Medicine FT PG Diploma Genomic Medicine FT PGDT Taught Component Optional PG Diploma Genomic Medicine FT PGDip Genomic Medicine FT(HEE) PGDT Taught Component Optional PG Diploma Genomic Medicine PT PG Diploma Genomic Medicine PT PGDT Taught Component Optional PG Diploma Genomic Medicine PT PGDip Genomic Medicine PT(HEE) PGDT Taught Component Optional PG Cert Genomic Medicine FT PG Cert Genomic Medicine FT PGDT Taught Component Optional PG Cert Genomic Medicine FT PGCert GenomicMedicine FT(HEE) PGDT Taught Component Optional PG Cert Genomic Medicine PT PG Cert Genomic Medicine PT PGDT Taught Component Optional PG Cert Genomic Medicine PT PG Cert Genomic Med PT (HEE) PGDT Taught Component Optional Genomic Medicine - CPD Genomic Medicine - CPD PGDT Taught Component Optional Genomic Medicine - CPD Genomic Medicine - CPD (HEE) PGDT Taught Component Optional MRes Genomic Medicine MRes Genomic Medicine PGDT Taught Component Optional Y Includes but is not limited to:<ol> <li> Harper  P Practical Genetic Counselling, 7th edition (Edward Arnold Publishers, 2010)</li> <li>Read AP, Donnai D  ‘New Clinical Genetics. A Guide to Genomic Medicine.’ (4th Ed.) Scion Publishing Ltd, 2021</li></ol> Internet addresses for key reference sources: OMIM (online version of McKusick's Mendelian Inheritance in Man):<a href="http://www.ncbi.nlm.nih.gov/omim/" title="http://www.ncbi.nlm.nih.gov/omim/">http://www.ncbi.nlm.nih.gov/omim/</a><a href="http://www.ncbi.nlm.nih.gov/omim/" title="http://www.ncbi.nlm.nih.gov/omim/">Medline</a><a href="http://www.ncbi.nlm.nih.gov/pubmed" title="http://www.ncbi.nlm.nih.gov/pubmed">http://www.ncbi.nlm.nih.gov/pubmed</a>Gene reviews<a href="http://www.genetests.org/" title="http://www.genetests.org/">www.genetests.org</a>Orphanet (rare genetic diseases)<a href="http://www.orpha.net/" title="http://www.orpha.net/">www.orpha.net</a> 0 0 150