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DRPS : Course Catalogue : Deanery of Biomedical Sciences : Biomedical Sciences

Undergraduate Course: Human Genetics and Molecular Medicine (BIME10073)

Course Outline
SchoolDeanery of Biomedical Sciences CollegeCollege of Medicine and Veterinary Medicine
Credit level (Normal year taken)SCQF Level 10 (Year 4 Undergraduate) AvailabilityAvailable to all students
SCQF Credits20 ECTS Credits10
SummaryGenetics and Molecular Medicine sets out to demonstrate the recent advances in the field of human genetics. The course will describe how mutations in the
genome arise, how they are detected and how knowledge of mutations informs on disease mechanisms. The course will also cover the clinical applications of human genetics including, molecular phenotyping and genetic approaches to treat disease.
Course description Human Genetics and Molecular Medicine is an exciting new course from 2020 that will harness the worldleading expertise of the researchers and clinicians of the Institute of Genetics and Molecular Medicine. It will explore how the latest developments in our understanding of genetic predisposition to rare and common diseases are being translated into changes in clinical practice. The course will look at the molecular basis of human genetic diseases and normal development, explaining how genome sequence variants and mutations arise, the cutting edge technology used in their identification and their impact on the aetiology of rare monogenic and common polygenic disease. The course will also cover how genetic variation contributes to diversity in human populations, accounting for differences in such variables as height, skin and hair colour and visual acuity. We will look at how genetic and molecular medicine breakthroughs are reported in the media and to what extent this reflects the underlying research studies. Lastly, students will learn how the combination of medical records and genetic data is providing novel insight into human biology leading to innovative diagnostic and therapeutic approaches.
Entry Requirements (not applicable to Visiting Students)
Pre-requisites Co-requisites
Prohibited Combinations Other requirements None
Information for Visiting Students
High Demand Course? Yes
Course Delivery Information
Academic year 2022/23, Available to all students (SV1) Quota:  20
Course Start Semester 1
Timetable Timetable
Learning and Teaching activities (Further Info) Total Hours: 200 ( Lecture Hours 20, Supervised Practical/Workshop/Studio Hours 4, Feedback/Feedforward Hours 10, Formative Assessment Hours 4, Summative Assessment Hours 4, Programme Level Learning and Teaching Hours 4, Directed Learning and Independent Learning Hours 154 )
Assessment (Further Info) Written Exam 0 %, Coursework 100 %, Practical Exam 0 %
Additional Information (Assessment) Students will be assessed on two pieces of course work.
The first will be a 3000 word literature review (70% of marks) on a human genetic diseases to be chosen by the student from 3 options.
o Students are expected to cover the natural history of the disease (discovery, clinical manifestations), modes of inheritance and gene/s involved, biology of the disease and treatments (past, present and future).

The second assessment will be a 10 minutes oral presentation (30% of marks) followed by questions.
o Students will choose a topic concerning genomic science from recent media headlines.
o Students are expected to describe and critique the research on which the news piece was based.
Feedback Students will be provided with formative written feedback on essay plans and summative feedback on their completed literature review.

Formative feedback will also be provided for presentation plans and summative feedback provided on oral presentations.
No Exam Information
Learning Outcomes
On completion of this course, the student will be able to:
  1. Demonstrate a critical understanding of the current theories of how mutations in the genome arise, and how technology has evolved to rapidly identify causative mutations in human disease.
  2. Gain knowledge of genetic disease mechanisms of exemplar cases of monogenic disease, including modes of inheritance, causal gene identification and the molecular and cellular mechanisms by which mutation of the causal gene lead to disease phenotype.
  3. Understand how genome-wide association studies have led to the identification of genetic variants that contribute to complex human traits including disease
  4. Demonstrate the ability to critically evaluate and consolidate information on human genetics from multiple sources (text books, lectures, research papers), and communicate knowledge with peers and specialists in both written and oral formats.
Reading List
Recommended text books include:
Genomes 4; Brown T.A., 2018 (4 copies in libraries) Lewin's Genes XII; Krebs J., et al. 2018 (7 copies in libraries)

Recommended further reading will be advised by the Course Organisers and contributors throughout the course.

All slides/presentations will be available through LEARN at least 48 hours prior to seminars.
Additional Information
Graduate Attributes and Skills The ability to evaluate and integrate information from multiple sources and communicate understanding through writing and presentation.
The ability to examine primary research data and use electronic resources to make informed conclusions.
KeywordsGenomics,disease,personalised medicine
Course organiserDr Laura Lettice
Tel: (0131 6)51 8564
Course secretaryMr Christopher French
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