Diagnosing Rare Diseases: from the Clinic to Research and back

Course Feature

Cost

Free
Provider

Futurelearn
Certificate

Paid Certification
Language

English
Start Date

1st May, 2023
Learners

No Information
Duration

3.00
Instructor

Roseline Favresse

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5.0

119 Ratings

This course will provide you with an understanding of the progress made in diagnosing rare genetic diseases, the types of genetic tests available, the impact of having a diagnosis, and the role of technology in diagnostic research. You will also gain insight into the lives of patients living with a rare genetic disease.

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Diagnosing Rare Diseases: from the Clinic to Research and back

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Course Overview

❗The content presented here is sourced directly from Futurelearn platform. For comprehensive course details, including enrollment information, simply click on the 'Go to class' link on our website.

Updated in [May 30th, 2023]

By taking this course, you will gain a better understanding of the progress made in rare diseases diagnosis, the types of genetic tests available, the impact of having a diagnosis on patients’ lives, and the role of technology in the context of understanding the human genome. You will also gain insights into patients’ experiences of rare genetic diseases and learn from guest lecturers from the field of rare diseases. Possible development paths in career or education include medical research, genetic counseling, and healthcare. Related learning suggestions include courses on medical genetics, genomics, and bioinformatics.

Course Syllabus

Introduction to the course

Welcome and Introduction

What is the clinical diagnostic pathway for rare diseases patients?

What is a rare disease?

Diving into analysis and interpretation of genetic results

Are all rare genetic diseases inherited?

What are the research steps to reach a diagnosis?

Challenges met when diagnosing rare diseases

What's next after the search for a diagnosis?

What do we call a diagnostic odyssey?

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