BS220-5-AU-CO:
Human Genetics
2016/17
Life Sciences (School of)
Colchester Campus
Autumn
Undergraduate: Level 5
Current
15
-
Requisites for this module
(none)
(none)
(none)
(none)
(none)
BSC B990 Biomedical Science,
BSC B991 Applied Biomedical Science (NHS placement),
BSC B995 Biomedical Science (Including Year Abroad),
BSC B999 Biomedical Science (Including Placement Year)
This module aims to provide an introduction to the field of human genetics from understanding the molecular basis of genetic disease, to the application of techniques for genome analysis in the clinical genetics laboratory. The inheritance of single gene diseases and more complex multifactorial disorders will be addressed. The types of abnormalities found in the human karyotype will be studied. The origins and types of defects observed, their effect at a molecular level and on the individuals and families affected will be considered. The impact of the human genome project, molecular diagnostic techniques and potential therapeutic options such as gene therapy will be considered.
Learning outcomes
At the end of this module students will be able to:
1. define the structure and organisation of the human genome and genes and explain modern methods used to study genome variation and expression;
2. explain the nature of single gene and complex genetic disease, including the mechanisms of disease and the inheritance patterns observed;
3. explain the mechanisms leading to abnormalities in the human karyotype, the resulting disorders and the molecular techniques used to study chromosomes;
4. valuate the different genetic screening tests, when they are applied and their application in genetic counselling;
5. demonstrate competence in information retrieval and data analysis and interpretation.
No information available.
No information available.
No additional information available.
18 hours lectures
2 x 3 hours practicals
2 hours revision
Assessment items, weightings and deadlines
| Coursework / exam |
Description |
Deadline |
Coursework weighting |
| Coursework |
Worksheet 1 |
|
40% |
| Coursework |
Worksheet 2 |
|
60% |
| Exam |
Main exam: 120 minutes during Summer (Main Period)
|
Additional coursework information
Summer Exam: wks 33-36
Exam format definitions
- Remote, open book: Your exam will take place remotely via an online learning platform. You may refer to any physical or electronic materials during the exam.
- In-person, open book: Your exam will take place on campus under invigilation. You may refer to any physical materials such as paper study notes or a textbook during the exam. Electronic devices may not be used in the exam.
- In-person, open book (restricted): The exam will take place on campus under invigilation. You may refer only to specific physical materials such as a named textbook during the exam. Permitted materials will be specified by your department. Electronic devices may not be used in the exam.
- In-person, closed book: The exam will take place on campus under invigilation. You may not refer to any physical materials or electronic devices during the exam. There may be times when a paper dictionary,
for example, may be permitted in an otherwise closed book exam. Any exceptions will be specified by your department.
Your department will provide further guidance before your exams.
Overall assessment
Reassessment
Module supervisor and teaching staff
Dr Louise Beard
School Undergraduate Office, email: bsugoffice (Non essex users should add @essex.ac.uk to create the full email address)
No
No
No
Dr Issam Ibrahim Saleem Hussain
The University of Lincoln
Senior Lecturer
Available via Moodle
Of 25 hours, 19 (76%) hours available to students:
6 hours not recorded due to service coverage or fault;
0 hours not recorded due to opt-out by lecturer(s).
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