SCI07011 2016 Molecular Biology & Genetics

General Details

Full Title
Molecular Biology & Genetics
Transcript Title
Molecular Biology
N/A %
Subject Area
SCI - Science
LIFE - Life Sciences
07 - NFQ Level 7
10 - 10 Credits
Start Term
2016 - Full Academic Year 2016-17
End Term
2020 - Full Academic Year 2020-21
Stephen Daly, Paul Walsh

This module introduces core principles of clinical and applied genetics and contemporary molecular methods sufficient to underpin further study and research in clinical geneticsThis module aims to introduce the main genetic defects that contribute to human disease conditions and provide an appreciation of how molecular methods can be used for diagnosis and the potential for new treatments.

Learning Outcomes

On completion of this module the learner will/should be able to;



K1 Appreciate historical aspects of genetics and understand the structure and function of nucleic acids and the mechanisms of human inheritance.

K2 Describe the main types of mutations and be able to describe, using examples, how gain and loss of function mutations relate to phenotype and human health.

K3 Describe how advances in human genomics and gene therapy and prenatal screening will impact on the diagnosis and treatment of human disease.

K4 Explain the principles of core techniques in molecular biology and their current and potential applications in clinical diagnostic and research laboratories.



I1 Interpret and appraise the application of a diverse range of molecular biology protocols.

I2 Assess the value of adequate experimental controls and use appropriate sample sizes.



P1 Develop practical experience in a range of core contemporary molecular techniques and their application in clinical and research context.

P2 Critically evaluate and analyse complex molecular biological data.

P3 Be aware of key ethical issues within the field of study.



T1 Analyse and solve a range of genetics problems.

T2 Accurately record and report data from experimental protocols.

T3 Convey and communicate both orally and in writing, knowledge of genetic disease.

Teaching and Learning Strategies


Lectures will be used to deliver the key principles underpinning genetic defects that contribute to human disease conditions, molecular methods used for diagnosis and new treatments of genetic disease. Tutorials will guide students on accessing current scientific publications and promote discussion on advances in human genomic and gene therapy and prenatal screening, and the application of a diverse range of molecular biology techniques. Students will interact with etutor via online discussion, mail and chat tools with BBLearn. The Practical and associated exercises will provide an understanding of a number of core and specialised molecular methods that are applicable to the detection of genetic mutations that cause human disease. It will give each student practical laboratory experience of evaluating the performance of a number of methods, and provide an appreciation of the advantages and disadvantages of basic molecular approaches used in molecular diagnostics.


The module is offered fully online, except for the practicals which can either be carried out over 2 days during a visit to Coleraine Campus or within an appropriate work place laboratory facility.

Module Assessment Strategies


Coursework 1: Group Poster Presentation

Students in groups of 3-4 will prepare a patient advice leaflet for a genetic disease. Written feedback will be provided on a bespoke feedback sheet, giving the breakdown of marks and comments. This coursework is a group task, one product, one mark thus allowing allocation of marks for individual student’s contribution from the poster (30% of this coursework assignment mark). Poster Presentation will contribute 15% of the module mark.




Coursework 2: Class Tests

Two Class Tests will be conducted under examination conditions and cover all aspects of the module. Class Tests may take the format of MCQs and/or short-answer questions. Feedback will be provided by annotated answer sheets. Class Tests will contribute 15% of the module mark.


Coursework 3: Practical Reports

Students will write up reports covering the aims and objectives, methods followed and a record of results obtained and a conclusion/discussion section for each practical session. Written feedback will be provided on a bespoke feedback sheet, giving the breakdown of marks and comments. Practical Reports will contribute 20% of the module mark.



A two-hour examination paper which will be divided into two Sections. Section 1 will comprise 20 MCQs to cover the entire course (all questions must be answered) and Section 2 will consist of short-answer questions to cover the entire course (students must answer 8 from a choice of 10). The written examination will contribute 50% to the overall module mark.


50% Coursework 50% Examination

Repeat Assessments


Indicative Syllabus



  • Overview of DNA structure and function.
  • Effect of DNA mutations on human health.
  • Contemporary molecular biology techniques for the study of clinical genetics.
  • Human Genome Project and its impact.
  • Cancer Genetics.
  • Inheritance: monogenic and multifactorial inheritance, mutation and disease.
  • Developmental genetics.
  • Pharmacogenomics/stratified medicine.
  • Genetic testing and counseling.
  • Approaches to treating genetic disease.
  • Molecular pathology and specific disease examples.

Coursework & Assessment Breakdown

Coursework & Continuous Assessment
50 %
End of Semester / Year Formal Exam
50 %

Coursework Assessment

Title Type Form Percent Week Learning Outcomes Assessed
1 Coursework 1 Continuous Assessment Group Project 15 % Week 12 1,2,3,4
2 Class Tests Continuous Assessment Assessment 15 % Week 12 1,2,3,4
3 Practical Reports Practical Written Report 20 % Week 12 1,2,3,4

End of Semester / Year Assessment

Title Type Form Percent Week Learning Outcomes Assessed
1 Examination Paper Final Exam Closed Book Exam 50 % Week 12 1,2,3,4

Distance Learning Mode Workload

Type Location Description Hours Frequency Avg Workload
Lecture Online Online 10 Weekly 10.00
Total Distance Learning Average Weekly Learner Contact Time 10.00 Hours

Module Resources

Non ISBN Literary Resources



Strachan T and Read A (2010) Human Molecular Genetics (4th Edition), New York, Garland Science.



Tobias ES, Connor M and Ferguson-Smith M (2011) Essential Medical Genetics (6th Edition), Chichester, Wiley-Blackwell.


Krebs JE, Kilpatrick ST and Goldstein ES (2013) Lewin’s Essential Genes (11th Edition), London, Jones and Bartlett Publishers, Inc.


Primrose SB and Twyman R (2006) Principles of Gene Manipulation and Genomics (7th Edition), Chichester, Wiley-Blackwell.


Students will also be directed to relevant up-to-date scientific literature.