A Dual Perspective on Genomic Medicine

Posted on 20th August 2020
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Dr Charles Steward from Congenica discusses the role of genomic medicine in investigating rare disease and his own family’s experiences. This is a good explainer about different types of genetic testing and examples of them being used in real cases.

Thank you to Charlie and his family for sharing their experiences with us.

Additional reading and references:
Slide 3
Chromosome 10. Deloukas et al., Nature, 2004 (PMID: 15164054)
Epilepsy study. Steward et al., npj Genomic Medicine, 2019 (PMID: 31814998)

Slide 5
The human genome.
Venter et al., Science, 2001 (PMID: 11181995)
Lander et al., Nature, 2001 (PMID: 11237011)
International Human Genome Sequencing Consortium, Nature, 2004 (PMID: 15496913)

Slide 6
Congenica.
Deciphering Developmental Disorders (DDD). Wright et al., Lancet, 2015 (PMID: 25529582)

Slide 7
Rare diseases
Deciphering Developmental Disorders
Genomics England and 100,000 Genomes Project
Genomics England and Congenica

Slide 10
Pediatric epilepsies. Carbonari et al., Epilepsy & Behaviour, 2019 (PMID: 29705623)

Slide 11
West syndrome/infantile spasms
International Collaborative Infantile Spasms Study (ICISS). O’Callaghan et al., Lancet, 2018 (PMID: 30236380)

Slide 12&13
Professor Raili Riikonen
International Conference on Epilepsy & Treatment September 21-22, 2015 Baltimore, USA

Slide 14
Lennox Gastaut syndrome

Slide 16
Sudden Unexpected Death in Epilepsy (SUDEP)

Slide 18
Anti-Epilepsy Drugs (AEDs). Balestrini S, Sisodiya SM, Neuroscience Letters, 2018 (PMID: 28082152)
Pyridoxine-dependent epilepsy. Hoffman GF et al., Journal of Inherited Metabolic Disease, 2006 (PMID: 17216302)
Glut1 deficiency syndrome. Verrotti A et al., European Journal of Paediatric Neurology, 2012 (PMID: 21962875)