Faster Analysis of Neurodevelopmental Disorders with Congenica Neuro
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.
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 demonstrates the use of Congenica Neuro as a way to streamline the molecular analysis of neurodevelopmental disorders and epilepsy, while optimizing diagnostic yield. Louisa shares how improved workflows lead to increased throughput and confidence, as well as improved patient outcomes.
To see how Congenica Neuro can help you increase efficiency in the diagnosis of developmental and epileptic disorders
- Our World in Data. https://ourworldindata.org/neurodevelopmental-disorders
- World Health Organization (2019). https://www.who.int/news-room/fact-sheets/detail/epilepsy
- Shashi V, et al. Genet Med. 2014 Feb;16(2):176-82.
- The Development Disorder Genotype – Phenotype Database (DDG2P). https://decipher.sanger.ac.uk/ddd#ddgenes