Repurposing drugs for rare disease (a LinkAGE webinar)

This LinkAGE webinar provides an overview of the Deciphering Developmental Disorders (DDD) project and how researchers can screen clinically approved drugs – as research candidates and as new orphan drugs – for trial use in rare developmental disorders.

It was presented by the academic paediatrics registrar Dr Hassan Shakeel. We have provided timestamps, video chapters and transcriptions to help you find what you need. The webinar and Q&A was broadcast live on 20 April 2023.

By the end of this webinar, you should be able to:

- describe the OpenTargets platform and its utility;
- explain what orphan drugs are;
- appreciate the basis of the Deciphering Developmental Disorders projects and Developmental Disorders Genotype to Phenotype database;
- understand the process of developing the tool used to identify drugs for potential clinical use against developmental disorders; and
- discuss the benefits and drawbacks of such a tool.

What is the LinkAGE expert webinar series?
The Genomics Education Programme's LinkAGE (Linking Academia and Genomics Education) series will aim to provide expert seminars on exciting ‘bench-to-bedside’ projects that are likely to impact on clinical practice in the not-too-distant future.

Who is the LinkAGE expert webinar series aimed at?
This webinar series is aimed at researchers, clinicians and other healthcare professionals who already have a strong understanding of fundamental genomics concepts. If you are just starting your learning journey, or need a quick refresher, we encourage you to visit our website: www.genomicseducation.hee.nhs.uk

Meet the speaker
Dr Hassan Shakeel is an academic paediatrics registrar and is a development lead within NHSE’s Genomics Education Programme. He undertook an academic clinical fellowship in paediatrics with the Hurles group at the Sanger Institute, Cambridge. His work within the OpenTargets and Deciphering Developmental Disorders teams looked at: developing computational models of disease phenotypes, comparing variant calling between different genomics projects and identifying new orphan drug agents for use in rare developmental disorders.

TIMESTAMPS
00:00 Introductions and talk overview
02:20 Learing objectives
03:05 What is target validation?
03:34 What is Open Targets?
05:10 What are orphan drugs?
06:49 How are the DDD project, DICIPHER database and DDG2P database related?
08:05 Motivation behind the repurposing drugs for rare disease algorithm.
10:48 Method
13:55 Results
16:30 Analysis of data
19:49 Real world example 1 - Penttinen-type premature aging syndrome
20:31 Real world example 2 - Hyperkalaemic periodic paralysis type 1
22:38 Real world example 3 - CLOVES
25:03 The future of repurposing dugs for rare disease
26:34 Acknowledgements and wrap up
28:00 Q&A

Footnote
The Genomics Education Programme is developing a substantial education programme to inform healthcare professionals about the impact of genomics on clinical practice. This video is the one of the many educational resources from the programme.

For more information visit https://www.genomicseducation.hee.nhs.uk