PATH30220 Rare Genetic Disorders

Academic Year 2023/2024

A disease or disorder is defined as rare when it affects less than 1 in 2000 individuals. It is estimated that there are between 6000 and 8000 rare disorders clinically identified. Approximately 80% of these rare disorders are genetic in origin, with infections, allergies and environmental influences accounting for the remaining 20% of presentations. Although individually rare, taken together it is estimated that these diseases may affect up to 157,000 people living in Ireland today and up to 30 million citizens of the European Union. There is a lack of awareness among medical professionals about rare conditions and more often than not, the diagnosis of these disorders in individuals is a long and grueling process for the patient.
This module is designed to enhance awareness of rare genetic disorders among future medical professionals. It aims to do this by creating a reflective and unique learning experience for students. This module has a strong clinical slant with representations by patient support and advocacy groups for rare genetic disorders. Selected rare disorders will be highlighted and the impact of these diseases on the patients and their families will be explored. The importance of research to the diagnosis and treatment of these disorders will also be covered. Economic and political aspects will also be discussed.
Students are required to attend lectures and seminars in order to successfully complete a reflective essay. Students should notify the co-ordinator in advance if they are unable to attend a session. Attendance will be recorded at lectures.

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Curricular information is subject to change

Learning Outcomes:

On completion of this module you will be able to:- Understand what is meant by the term rare disease - Consider the issues associated with managing patients and their families with rare genetic disorders - For selected rare genetic disorders, demonstrate scientific knowledge of the inheritance patterns and implications for family members and their children. - Appreciate the importance of research to diagnosis of rare diseases and the importance of identifying novel treatments for these orphan genetic disorders - Rationalise the current Governmental Health Policies and funding initiatives to support Rare Disease Research. - Identify the resources currently available for Health Care professionals to access information on rare diseases and identify the health educational gaps in this regard

Student Effort Hours: 
Student Effort Type Hours


Specified Learning Activities


Autonomous Student Learning




Approaches to Teaching and Learning:
The key teaching and learning approaches used in this module are online lectures and seminars, independent reading and reflective learning based on participation during class and engagement with the material delivered. 
Requirements, Exclusions and Recommendations
Learning Requirements:

Students are required to have a background in human genetics

Learning Recommendations:

This module is an ideal complement to the core stage 3 module, Genetics, Perinatal and Paediatric Diseases

Module Requisites and Incompatibles
Not applicable to this module.
Assessment Strategy  
Description Timing Open Book Exam Component Scale Must Pass Component % of Final Grade In Module Component Repeat Offered
Essay: Reflective Diary and Essay Throughout the Trimester n/a Graded No



Carry forward of passed components
Resit In Terminal Exam
Autumn No
Please see Student Jargon Buster for more information about remediation types and timing. 
Feedback Strategy/Strategies

• Group/class feedback, post-assessment

How will my Feedback be Delivered?

Not yet recorded.