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Faster Analysis of Neurodevelopmental Disorders with Congenica Neuro

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Around 300 million people worldwide are thought to have epilepsy or a neurodevelopmental disorder. 1,2 Many of these disorders are now known to have an underlying genetic origin, with a molecular cause being found in approximately 40% of cases.

Genetic heterogeneity is high in these cases, with over 1,500 genetic loci known to be associated with neurodevelopmental disorders and epilepsy.3,4

A whole exome or genome approach combined with the use of virtual gene panels therefore maximizes diagnostic yield for these children, but can represent an analytical and interpretive challenge for even the most experienced physician or scientist.

In this webinar, State Registered Clinical Scientist Louisa Ive will demonstrate the use of Congenica Neuro as a way to streamline the molecular diagnosis of children with neurodevelopmental disorders and epilepsy, whilst optimizing diagnostic yield. She will share how improved workflows lead to increased throughput and confidence, as well as improved patient outcomes.

At this event you will learn:

  • The current diagnostic challenges faced in treating children with neurodevelopmental disorders and/or epilepsy
  • How to maximize workflow efficiency and diagnostic yield using advanced clinical decision support software in conjunction with integrated expert gene curation
  • The real-life benefits of using a streamlined, standardised approach

Louisa Ive

Clinical Scientist, Congenica

Louisa Ive, MSc HCPC, received her undergraduate education at University College London, London and completed her Clinical Scientist training at St George’s University Hospital, London. She is a practicing Clinical Scientist, certified by the Health & Care Professions Council and currently working within the Clinical team at Congenica. Her clinical expertise within genetics is broad, however she has a subspecialty interest in pre-implantation and prenatal diagnosis. Her MSc thesis explored extended next generation sequencing testing in colorectal cancer patients. Louisa is a former Chair of the London Healthcare Science Trainee Network, and is a current member of the British Society of Genetic Medicine.

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References

  1. Our World in Data. https://ourworldindata.org/neurodevelopmental-disorders
  2. World Health Organization (2019). https://www.who.int/news-room/fact-sheets/detail/epilepsy
  3. Shashi V, et al. Genet Med. 2014 Feb;16(2):176-82.
  4. The Development Disorder Genotype – Phenotype Database (DDG2P). https://decipher.sanger.ac.uk/ddd#ddgenes

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