FORS07009 2019 Human Genetics

General Details

Full Title

Human Genetics

Transcript Title

Human Genetics

Code

FORS07009

Attendance

N/A %

Subject Area

FORS - 0512 Forensic Studies

Department

LIFE - Life Sciences

Level

07 - Level 7

Credit

05 - 05 Credits

Duration

Semester

Fee

€

Start Term

2019 - Full Academic Year 2019-20

End Term

9999 - The End of Time

Author(s)

Sharon Barrett

Programme Membership

SG_SFORE_G07 201900 Bachelor of Science in Science in Forensic Invest and Analys(Emb) SG_SFORE_H08 201900 Bachelor of Science (Honours) in Forensic Investigation and Analysis SG_SFORE_B07 201900 Bachelor of Science in Science in Forensic Investigation and Analysis

Description

This module aims to introduce the basic concepts of human genetics and genomics including Mendelian, molecular, and population genetics. The course content emphasises knowledge that allows a deep understanding of the role of genetics in health and forensic applications.

Learning Outcomes

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

Demonstrate intellectual knowledge by explaining the basic principles underpinning human genetics.

Demonstrate professional skills/practice by being able to interpret, analyse and report Genetic data.

Communicate scientific data in an appropriate format

Teaching and Learning Strategies

This module will be delivered full-time. Lecture delivery will be the primary mode of dissemination for the theory component of the module while data analysis/problem solving will be explored in computer laboratory sessions. Moodle will serve as the repository for educational resources and as a means of assessment (e.g. quizzes and uploading various assignments).

Module Assessment Strategies

The assessment approach for this module will be 100% Continuous Assessment with a range of assessment methods employed including some of the following; multiple choice quizzes and short answer questions, pedigree analysis, data mining and analysis, genetic testing report preparation, poster assignments, report writing and oral presentations etc.

Repeat Assessments

If a student fails to achieve 40% in the module they will be required to resit class exams and submit repeat continuous assessment.

Indicative Syllabus

LO1 The structure and function of nucleic acids.

DNA replication, transcription, translation.

The basis of mutation and genetic variation and effects of DNA mutations on human health

Mendelian Inheritance and modes of inheritance e.g. Autosomal Dominant, Autosomal Recessive, and Sex-linked Recessive Traits.

Pedigree Analysis.

Mitosis & meiosis

The basic principles of cytogenetics including karotyping. and how chromosomal abnormalities result in disease.

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

Introduction to a range of techniques used for genetic analysis including emerging technologies.

LO2 Demonstrate professional skills/practice by being able to interpret, analyse and report Genetic data.

Interpret familial patterns of inheritance and the role of pedigrees for both classical Mendelian and common disease.

Analyse (to include data mining), evaluate and draw conclusions from data presented in problem solving exercises

Evaluate relevant primary research articles.

LO3 Communicate scientific data in an appropriate format

Accurately record, interpret and report genetic data in a variety of formats from a variety of sources e.g Genetic Testing Reports, Posters etc

Convey and communicate in oral format, knowledge of genetic disease.

Coursework & Assessment Breakdown

Coursework & Continuous Assessment

100 %

Coursework Assessment

	Title	Type	Form	Percent	Week	Learning Outcomes Assessed
1	Poster	Coursework Assessment	Individual Project	25 %	Week 5	2,3
2	MCQ	Coursework Assessment	Multiple Choice/Short Answer Test	15 %	Week 7	1
3	Presentation	Coursework Assessment	Performance Evaluation	20 %	Week 9	3
4	Genetic Report	Coursework Assessment	Assignment	15 %	Week 11	2

End of Semester / Year Assessment

	Title	Type	Form	Percent	Week	Learning Outcomes Assessed
1	Final Exam	Final Exam	Multiple Choice/Short Answer Test	25 %	End of Semester	1,2

Full Time Mode Workload

Type	Location	Description	Hours	Frequency	Avg Workload
Lecture	Lecture Theatre	Theory	2	Weekly	2.00
Directed Learning	Computer Laboratory	Directed learning and Continuous Assessment	1	Weekly	1.00
Independent Learning	UNKNOWN	Self study	2	Weekly	2.00

Total Full Time Average Weekly Learner Contact Time 2.00 Hours

Required & Recommended Book List

Required Reading
2018-12-18 Human Molecular Genetics Garland Science
ISBN 0815345895 ISBN-13 9780815345893

Human Molecular Genetics has been carefully crafted over successive editions to provide an authoritative introduction to the molecular aspects of human genetics, genomics and cell biology. Maintaining the features that have made previous editions so popular, this fifth edition has been completely updated in line with the latest developments in the field. Older technologies such as cloning and hybridization have been merged and summarized, coverage of newer DNA sequencing technologies has been expanded, and powerful new gene editing and single-cell genomics technologies have been added. The coverage of GWAS, functional genomics, stem cells, and disease modeling has been expanded. Greater focus is given to inheritance and variation in the context of populations and on the role of epigenetics in gene regulation. Key features: Fully integrated approach to the molecular aspects of human genetics, genomics, and cell biology Accessible text is supported and enhanced throughout by superb artwork illustrating the key concepts and mechanisms Summary boxes at the end of each chapter provide clear learning points Annotated further reading helps readers navigate the wealth of additional information in this complex subject and provides direction for further study Reorganized into five sections for improved access to related topics Also new to this edition - brand new chapter on evolution and anthropology from the authors of the highly acclaimed Human Evolutionary Genetics A proven and popular textbook for upper-level undergraduates and graduate students, the new edition of Human Molecular Genetics remains the 'go-to' book for those studying human molecular genetics or genomics courses around the world.

Required Reading
2013-02-11 Human Genetics and Genomics, Includes Wiley E-Text John Wiley & Sons
ISBN 9780470654477 ISBN-13 0470654473

This text clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression.Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today's genetics teaching, and includes updated discussion of genetic risk assessment, single gene disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision.

Module Resources

Non ISBN Literary Resources

All resources will be provided by the module co-ordinator in Moodle.

Journal Resources

All resources will be provided by the module co-ordinator in Moodle.

URL Resources

All resources will be provided by the module co-ordinator in Moodle.

Other Resources

All resources will be provided by the module co-ordinator in Moodle.

Additional Information

None