neurogenetics • congenital cerebral malformations • Joubert syndrome • cerebellum • exome sequencing
My resesarch focuses on congenital brain malformations, which are usually the result of disruption during fetal development. Affected children can have important neurologic impairments, such as motor deficits, learning impairments and epilepsy. Though a genetic etiology is often suspected, the responsible gene is rarely identified. I study the genetic causes of congenital brain malformations using novel sequencing technologies. My lab is particularly interested in schizencephaly, which is a brain abnormality characterized by an abnormal "split" in the brain, on structural disorders of the cerebellum, which is the area of the brain mainy responsible for coordination, and on focal cortical dyplasias, which are groups of disorganized and abnormal cells in the brain that are the major cause of severe epilepsy. My aim is to identify the genes responsible for these disorders, in order to shed light on the underlying mechanism, improve clinical care and genetic counseling, and ultimately develop novel treatments and specific therapies.
Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V; FORGE Canada Consortium, Maranda B, Rouleau GA, Majewski J, Michaud JL. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet. 2012;90(4):693-700. PMID: 22425360.
Srour M, Rivière JB, Pham J, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Dubé MP, Chouinard S, Charron C, Rouleau G. Mutations in DCC cause congenital mirror movements. Science. 2010; 328(5978):592. PMID: 20431009.
Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B, Consortium FC, Rouleau GA, Majewski J, Michaud JL. Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet. 2012 Oct;49(10):636-41. PMID: 23012439.
Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi J, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL. Recessive and dominant mutations in retinoic acid receptor beta cause microphthalmia and diaphragmatic hernia. Am J Hum Genet. 2013 Oct 3;93(4):765-72. PMID: 24075189.
Srour M, Hamdan FF, Gan-Or Z, Labuda D, Nassif C, Oskoui M, Gana-Weisz M, Orr-Urtreger A, Rouleau GA, Michaud JL. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. Clin Genet. 2015 Apr 30 PMID: 25930971.