91AV

The combined long-term objectives of our research are to better understand the molecular, genetic, and cellular mechanisms causing neurodevelopmental and neurological disorders. Overall, my research interests lie primarily in the study of disorders of brain development and neurological disease, and specifically involve the following areas of investigation:

1) functional analyses of AHI1 and CSPP1, two novel genes which we mapped and cloned in individuals with Joubert syndrome (Hsiao et al., J. Neurosci., 2021; Munoz and Ferland, J. Cell Sci., 2019; Bourgeois and Ferland, Dev. Biol., 2019; Tuz et al., Am. J. Hum. Genet., 2014; Tuz et al., J. Biol. Chem., 2013; Westfall et al., J. Neurosci., 2010; Hsiao et al., Hum. Mol. Genet., 2009; Doering et al., J. Comp. Neurol., 2008; Ferland et al., Nature Genetics, 2004),

2) formation and function of the primary non-motile cilia in development and disease (Hua and Ferland, Methods Cell Bio., 2023; Hsiao et al., J. Neurosci., 2021; Munoz and Ferland, J. Cell Sci., 2019; Munoz and Ferland, J. Cell Sci., 2019; Bourgeois and Ferland, Dev. Biol., 2019; Hua and Ferland, Bioessays, 2018; Hua and Feland, Cell. Mol. Life Sci., 2018; Hua and Ferland, Cilia, 2017; Tuz et al., Am. J. Hum. Genet., 2014; Tuz et al., J. Biol. Chem., 2013; Hsiao et al., Cilia, 2012; Westfall et al., J. Neurosci., 2010; Hsiao et al., Hum. Mol. Genet., 2009), 

3) genetic and neuroanatomical mechanisms of seizure threshold, seizure propagation, epileptogenesis, and Sudden Unexplained Death in Epilepsy (SUDEP) (Wilson, et al., FASEB J., 2021; Ferland et al., G3 Genes, Genom. Genet, 2017; Ferland, 2017; Loscher, Ferland, and Ferraro, Epilepsy and Behavior, 2017; Kadiyala et al., J. Neurosci., 2016; Kadiyala et al., Epil. Res., 2015; Kadiyala et al., PLoS ONE, 2014; Papandrea et al., Exp. Neurol., 2009; Papandrea et al., Epil. Res., 2009; Ferland et al, 1998a,b,c, 1999, 2002a,b, 2003).