Developmental Neurogenetics Laboratory
Barrow Neurological Institute of St. Joseph's Hospital and Medical Center, Phoenix, Arizona
Vinodh Narayanan, M.D.
Pediatric Neurology Division
Principal Investigator
Developmental Neurogenetics Laboratory
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Biographical Sketch
Laboratory Focus
The Developmental Neurogenetics Laboratory focuses on the pathogenesis of neurogenetic disorders—Neurofibromatosis 1, tuberous sclerosis complex (TSC), Rett syndrome, among others. Our efforts are aimed at understanding how single gene defects alter brain development, and in particular, synapse development.
Specific projects under way:
1) studies of axonal transport in Nf1 -/+ mice
2) development of novel “knock-in” MeCP2 mutant mice as models for X-linked mental retardation and Rett syndrome
3) allelic expression imbalance of the TSC genes, and the importance of this phenomenon in intra-familial variation in disease severity.
The laboratory is also actively engaged in characterizing cell adhesion molecules associated in synapse development and function.
Laboratory Accomplishments and Research Projects
- Creation of the A140V MeCP2 knock-in mouse model for X-linked mental retardation and Rett syndrome
- Cloning and characterization of the M6 /proteolipid family of neural adhesion molecules
- Cloning and characterization of SIRPalpha and CD47, a pair of interacting synaptic adhesion molecules
- Cloning and characterization of the myelin P2 gene
Research Projects 2000–Present
- Pathogenesis of cognitive disturbance in NF1—expression profiling in a murine model
- Axonal transport defects in a mouse model of NF1—functional studies in vivo, using manganese-enhanced MRI
- Allelic expression imbalance of the TSC genes
- Novel “knock-in” murine models for the study of Rett syndrome
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