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Investigating human-specific changes that occur during early neuron development with loss of TSC2 or CDKL5

Investigating human-specific changes that occur during early neuron development with loss of TSC2 or CDKL5


Understanding the molecular mechanisms underlying CNS dysfunctions

Understanding the molecular mechanisms underlying CNS dysfunctions


The role of DEPDC5 in epileptogenesis and brain malformations

The role of DEPDC5 in epileptogenesis and brain malformations


Investigating the mechanism of FMRP dysregulation with loss of TSC2.

Investigating the mechanism of FMRP dysregulation with loss of TSC2.


Characterization of neuropsychiatric disease phenotypes of 16p11.2 iPSC derived dopaminergic neurons and cortical neurons in vitro

Characterization of neuropsychiatric disease phenotypes of 16p11.2 iPSC derived dopaminergic neurons and cortical neurons in vitro


Striatal Deficits in the Development of Schizophrenia in Patients with Copy Number Variations of 16p11.2.

Striatal Deficits in the Development of Schizophrenia in Patients with Copy Number Variations of 16p11.2.


Development of an in vitro model of SSADH deficiency using patient iPSC derived neurons to support unbiased screening of novel therapeutic approaches to treatment

Development of an in vitro model of SSADH deficiency using patient iPSC derived neurons to support unbiased screening of novel therapeutic approaches to treatment


Childhood-onset movement disorders & Hereditary Spastic Paraplegia

Childhood-onset movement disorders & Hereditary Spastic Paraplegia


Investigating the effects of 16p13.11 CNVs on excitatory and inhibitory neurons using iPSCs

Investigating the effects of 16p13.11 CNVs on excitatory and inhibitory neurons using iPSCs


Role of Interneurons in TSC-associated epilepsy

Role of Interneurons in TSC-associated epilepsy


  • Investigating human-specific changes that occur during early neuron development with loss of TSC2 or CDKL5
  • Understanding the molecular mechanisms underlying CNS dysfunctions
  • The role of DEPDC5 in epileptogenesis and brain malformations
  • Investigating the mechanism of FMRP dysregulation with loss of TSC2.
  • Characterization of neuropsychiatric disease phenotypes of 16p11.2 iPSC derived dopaminergic neurons and cortical neurons in vitro
  • Striatal Deficits in the Development of Schizophrenia in Patients with Copy Number Variations of 16p11.2.
  • Childhood-onset movement disorders & Hereditary Spastic Paraplegia
  • Development of an in vitro model of SSADH deficiency using patient iPSC derived neurons to support unbiased screening of novel therapeutic approaches to treatment
  • Role of Interneurons in TSC-associated epilepsy
  • Investigating the effects of 16p13.11 CNVs on excitatory and inhibitory neurons using iPSCs
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