Module Specification
The information contained in this module specification was correct at the time of publication but may be subject to change, either during the session because of unforeseen circumstances, or following review of the module at the end of the session. Queries about the module should be directed to the member of staff with responsibility for the module.
Title Human and Clinical Genetics
Code LIFE321
Coordinator Dr NJ Jones
Biochemistry
N.J.Jones@liverpool.ac.uk
Year CATS Level Semester CATS Value
Session 2016-17 Level 6 FHEQ First Semester 15

Pre-requisites before taking this module (other modules and/or general educational/academic requirements):
LIFE208 None 

Modules for which this module is a pre-requisite:
 

Co-requisite modules:
 

Linked Modules:
 

Teaching Schedule
  Lectures Seminars Tutorials Lab Practicals Fieldwork Placement Other TOTAL
Study Hours 19

         7

4

 30
Timetable (if known) This refers to timetabled lectures
  		        This refers to timetabled workshops
This refers to scheduled times for summative assessments
  		 
Private Study 120
TOTAL HOURS 150

Assessment
EXAM Duration Timing
(Semester)		 % of
final
mark		 Resit/resubmission
opportunity		 Penalty for late
submission		 Notes
Unseen Written Exam  2 hours  1  70  Yes  Standard UoL penalty applies  Assessment 1 
CONTINUOUS Duration Timing
(Semester)		 % of
final
mark		 Resit/resubmission
opportunity		 Penalty for late
submission		 Notes
Coursework  1 hour  1  15  Yes  Standard UoL penalty applies  Assessment 2 
Coursework  1 hour  1  15  Yes  Standard UoL penalty applies  Assessment 3 Notes (applying to all assessments) Assessment 1 will be a written examination. Assessment 2 will be problem solving exercises and objective tests such as mcq or extended matching items. Assessment 3 will be problem solving exercises and objective tests such as mcq or extended matching items. 

Aims
  1. To develop in students an advanced understanding of modern medical genetics by expanding on fundamental principles introduced at level 5

  2. To explain a variety of genetic phenomena that affect human health and introduce a critical awareness of ethical considerations raised by advances in clinical genetics

  3. To develop in students knowledge and deep understanding in genetics, and ability to apply, critically evaluate and inter pret this knowledge to solve complex problems

Learning Outcomes

To discuss in detail the molecular and genetic causes of chromosomal mutation and genetic instability and the candidate genes linked with the formation of abnormal phenotypes
To examine varied approaches to the identification of loci associated with clinical manifestations and abnormal human phenotypes
To appraise the growing importance of modern molecular genetics in the understanding and treatment of heritable forms of human disease
To evaluate the prospects for, and implications of, high throughput genotyping and sequencing for molecular diagnostics in the post-genomic era
To critically discuss the consequences and ethical issues associated with genetic screening and testing at both an individual and population level

Teaching and Learning Strategies

Lecture -

This refers to timetabled lectures

Workshop -

This refers to timetabled workshops

Assessment -

This refers to scheduled times for summative assessments

Syllabus
1 

Human disease genes: classical studies and approaches, application of modern technology, genome mapping and high throughput sequencing, monogenic and polygenic diseases

Epigenetics, complex and non-Mendelian genetics: imprinting, triplet repeats, digenic inheritance, pharmacogenetics, susceptibility testing, GWAS association studies

Chromosomal mutation and disease: meiotic error, trisomy, monosomy, structural rearrangement, genomic architecture

Genome maintenance and stability: genome instability disorders, cancer predisposition, clinical manifestations including neurological and haematological abnormalities, ageing

Genetic counselling: approaches, ethics and public health, cost benefit approaches, eugenics, ownership of genetic information, genetics and the law

Foetal medicine and prenatal diagnosis: approaches, therapies and termination of pregnancy, pre-implantation genetic diagnosis, non-invasive pre-natal diagnosis, stem cell, ethics 

Recommended Texts
Reading lists are managed at readinglists.liverpool.ac.uk. Click here to access the reading lists for this module.
Explanation of Reading List: