- Lectures / Webinars
- In-depth analysis of genetic testing in CP with illustrative case studies and a glimpse at the future anticipated developments
In-depth analysis of genetic testing in CP with illustrative case studies and a glimpse at the future anticipated developments
New
ICNC2024
Symposia: Hidden Etiology of Cerebral Palsy: Shifting Paradigms In An Era of Molecular Genetics
In-depth analysis of genetic testing in CP with illustrative case studies and a glimpse at the future anticipated developments
Erdem Şimşek
Genetic etiology contributes significantly to the development of cerebral palsy (CP), both through impaired brain development and dysregulated responses to risk factors. Several recurrent genes with strong evidence of pathogenicity have been identified. However, there are probably hundreds more genes waiting to be discovered and/or confirmed. The pediatric neurologist and geneticist should collaborate to decide on the genetic algorithm, validate the variants with clinical findings, and regularly reanalyze previous studies if inconclusive.
Another aspect of CP genomics is the multifactorial identification of risk genes rather than strictly a single gene pathway. By processing high-throughput data from population studies or methylation studies with artificial intelligence, we can identify risk genes and even predict CP. With the help of artificial intelligence, reverse phenotyping may become increasingly relevant in patients undergoing neurodevelopmental evaluation as NGS data may already be available.
The purpose of this talk is to discuss with representative case examples what can be done in cases where primary care genetic testing is insufficient, to talk about genetic testing that can be put into clinical practice in the near future, and to discuss the possible contributions of artificial intelligence and big data.
Other Lectures in this symposium
Genetic insights into the classification and treatment modalities of the cerebral palsies
Practical aspects of doing genetic testing in CP - Tests available and when to do which one for efficient diagnosis
Prompt use of clinical phenomenology and radiological investigations for evaluation for an underlying etiology in cerebral palsy