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).

Hua K, Ferland RJ. Fixation methods and immunolabeling for cilia proteins in ciliary and extraciliary locations. (Invited submission). Methods Cell Biol., 176:43-57, 2023.

Wilson CS, Dohare P, Orbeta S, Nalwalk JW, Huang Y, Ferland RJ, Sah R, Scimemi A, Mongin AA. Late adolescence mortality in mice with brain-specific deletion of the volume-regulated anion channel subunit LRRC8A. FASEB J., 35(10):e21869, 2021.

Hsiao YC, Muñoz-Estrada J, Tuz K, Ferland RJ. The transition zone protein AHI1 regulates neuronal ciliary trafficking of MCHR1 and its downstream signaling pathway. J. Neurosci., 41(17):3932-3943, 2021.

• Article was chosen as 1 of two Featured Articles in the Journal of Neuroscience (with accompanying write-up)

Srinivasan A, Srinivasan A, Ferland RJ. AutoSholl allows for automation of Sholl analysis independent of user tracing. J Neurosci Methods, 331:1-6, 2020. Source code & compiled version of the algorithm are available at: https://github.com/ferlandlab/AutoSholl

Muñoz-Estrada J and Ferland RJ. Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration. Journal of Cell Science, 132(17): 1-18, 2019.

Bourgeois JR and Ferland RJ.  Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement. Developmental Biology, 448(1): 36-47, 2019.

Hua K and Ferland RJ. Primary cilia reconsidered in the context of ciliopathies: Extraciliary and ciliary functions of cilia proteins converge on a polarity theme? Bioessays, 40, 1700132, 1-11, 2018.