Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development

  • Dalila De Vita,

Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.

  • Keywords:
  • MCDs,
  • Epilepsy,
  • NGS,
  • fibroblasts,
  • metformin,
+ Show more

Dalila De Vita

University of Florence, Italy

Dalila De Vita, graduated with a Master’s degree in Molecular Biology at the University of Pisa and received his PhD in Drug Research and Innovative Treatments at the University of Florence in 2019. Her main research interests are in the field of neuroscience; in particular, her work is based on the research of the molecular causes underlying the onset of epilepsies and malformations of cortical development.
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  • Publication Year: 2021
  • Pages: 66
  • eISBN: 978-88-5518-344-4
  • Content License: CC BY 4.0
  • © 2021 Author(s)

  • Publication Year: 2021
  • Pages: 66
  • eISBN: 978-88-5518-345-1
  • Content License: CC BY 4.0
  • © 2021 Author(s)

  • Publication Year: 2021
  • Pages: 66
  • ISBN: 978-88-5518-343-7
  • Content License: CC BY 4.0
  • © 2021 Author(s)

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Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development


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