Associate Professor & Associate Director
University of Rochester Medical School
Postdoctoral Training at Harvard Medical School
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 patients with Joubert syndrome (Ferland et al., Nature Genetics, 2004; Doering et al., J. Comp. Neurol., 2008; Hsiao et al., Hum. Mol. Genet., 2009; Westfall et al., J. Neurosci., 2010; Tuz et al., J. Biol. Chem., 2013; Tuz et al., Am. J. Hum. Genet., 2014),
2) formation and function of the primary non-motile cilia in development and disease (Hsiao et al., Hum. Mol. Genet., 2009; Westfall et al., J. Neurosci., 2010; Hsiao et al., Cilia, 2012; Tuz et al., J. Biol. Chem., 2013; Tuz et al., Am. J. Hum. Genet., 2014),
3) genetic and neuroanatomical mechanisms of seizure threshold, seizure propagation, and epileptogenesis (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).
Current Lab Members:
José De Jesús Muñoz Estrada, PhD (post-doc)
Justin Bourgeois (PhD student)
Kiet (Robert) Hua (MD/PhD student)
Julia Nalwalk, MS (Instructor)
Former Post-docs (current position):
Karina Tuz, PhD (IIT, Chicago, IL)
Bakul Dhagat-Mehta, PhD (Cancer Research Center of Columbia, MO)
Bingxing Shi, PhD (BioVision, Inc)
Former Graduate Students (current position):
Sridhar Kadiyala, MBBS, PhD (SUNY Stony Brook)
Jennifer (Doering) Westfall, PhD (Albany Medical College)
Dominick Papandrea, PhD (Columbia University)
Yi-Chun (Jessica) Hsiao, PhD (Genentech)
Tara Anderson, MS (High School science teacher in MA)
- Ferland R and Hua K. Referee Report For: Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles [version 1; referees: 2 approved] F1000Research 2015, 4:590 (doi: 10.5256/f1000research.7495.r10185)
- Kadiyala SB, Papandrea D, Tuz K, Anderson TM, Jayakumara S, Herron BJ, Ferland RJ. Spatiotemporal differences in the c-fos pathway between C57BL/6J and DBA/2J mice following flurothyl-induced seizures: A dissociation of hippocampal Fos from seizure activity. Epilepsy Res., 109:183-196, 2015.
- Hu J, Lu J, Lian G, Ferland RJ, Dettenhofer M, Sheen VL. Formin 1 and Filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate. Hum. Mol. Genet., 23(17):4663-4673, 2014.
- Kadiyala SB, Papandrea D, Herron BJ, Ferland RJ. Segregation of seizure traits in C57 Black mouse substrains using the repeated-flurothyl model. PLoS ONE 9(3): e90506.
- Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am. J. Hum. Genet., 94(1): 62–72, 2014.
- Tuz K, Hsiao YC, Juarez O, Shi B, Harmon EY, Phelps IG, Lennartz MR, Glass IA, Doherty D, Ferland RJ. The Joubert syndrome associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J. Biol. Chem., 288(19):13676-94, 2013.
- Bhoiwala DL, Koleilat I, Qian J, Beyer B, Hushmendy SF, Mathew A, Bhoiwala DL, Ferland RJ, Crawford DR. Overexpression of RCAN1 isoform 4 in mouse neurons leads to a moderate behavioral impairment. Neurol. Res., 35(1):79-89, 2013.
- Zhang J, Neal J, Lian G, Shi B, Ferland RJ, Sheen VL. Brefeldin A-inhibited guanine exchange factor 2 regulates Filamin A phosphorylation and neuronal migration. J. Neurosci., 32(36):12619-12629, 2012.
- Lian G, Lu J, Hu J, Zhang J, Cross SH, Ferland RJ, Sheen VL. Filamin A Regulates Neural Progenitor Proliferation and Brain Size through Wee1-Dependent Cdk1 Phosphorylation. J. Neurosci., 32(22):7672-84, 2012.
- Hsiao Y-C, Tuz K, Ferland RJ, Trafficking in and to the primary cilium. Cilia, 1:4 (1-13), 2012
- Westfall (Doering) JE, Hoyt C, Liu Q, Hsiao Y-C, Pierce EA, Page-McCaw PS, Ferland RJ. Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. J. Neurosci., 30(26):8759-8768, 2010.
- Papandrea D, Kukol WS, Anderson TM, Herron BJ, Ferland RJ. Analysis of flurothyl-induced myoclonus in inbred strains of mice. Epil. Res., 87:130-136, 2009.
- Hsiao Y-C, Tong ZJ, Westfall (Doering) JE, Ault JG, Page-McCaw PS, Ferland RJ. Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for proper localization of Rab8a, ciliogenesis, and vesicular trafficking. Hum. Mol. Genet., 18(20):3926-3941, 2009.
- Ferland RJ, Batiz LF, Neal J, Lian G, Bundock E, Lu J, Hsiao Y-C, Diamond R, Mei D, Banham A, Brown PJ, Vanderburg CR, Joseph J, Hecht JL, Folkerth R, Guerrini R, Walsh CA, Rodriguez EM, Sheen VL. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Hum. Mol. Genet., 18(3):497-516, 2009.
- Papandrea D, Anderson TM, Herron BJ, Ferland RJ. Genetic dissociation of seizure traits in inbred strains of mice using the flurothyl model of epileptogenesis. Exp. Neurol., 215:60-68, 2009.
- Doering JE, Kane K, Hsiao Y-C, Yao C, Shi B, Slowik A, Dhagat B, Scott D, Ault JG, Page-McCaw PS, Ferland RJ. Species differences in the expression of AHI1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies. J. Comp. Neurol., 511:238-256, 2008.
- Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, and Walsh CA. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert Syndrome. Nature Genet., 36:1008-1013, 2004.