Date and Time

Thu, 20th Apr 2023, 5:30pm

to Thu, 20th Apr 2023, 6:30pm


Live via MS Teams


Developmental disorders, as a group of conditions, are common within the general population; but as separate conditions they are rare. Many of them lack effective therapies. There are a number of methods used to generate new therapies for use in these disorders – for example, spinal muscular atrophy, which we covered previously.

An alternative approach is to identify drugs that are already in clinical use. Specifically, drugs that have an opposing direction of action to that generated by the developmental-disorder-linked genetic variant. The hope is to repurpose these drugs for a limited trial use in rare conditions.

In this LinkAGE webinar, Dr Hassan Shakeel will describe his work that culminated in an algorithm that can screen clinically approved drugs – as research candidates and as new orphan drugs – for trial use in rare developmental disorders.

By the end of this fourth LinkAGE 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.

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 check out our genetics and genomics learning centre.

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.

Register your interest to access the webinar

This webinar can be accessed online via YouTube.