• Lopez-Rangel, Elena

    Titles

    Investigator, BC Children's Hospital
    Clinical Assistant Professor, Division of Developmental Pediatrics, Department of Pediatrics, Faculty of Medicine, University of British Columbia

    Degrees / Designations
    MD, MSc, FRCPC
    Primary Area of Research
    Brain, Behaviour & Development
    Secondary Area(s) of Research
    Phone
    604-453-8300 x8382
    Fax
    604-453-8338
    Lab Phone
    Assistant
    Maria Chan
    Assistant Phone
    604-453-8300 x8384
    Mailing Address
    Sunny Hill Health Center for Children

    3644 Slocan Street
    Vancouver BC V5M 3E8

    Affiliate Websites
    Research Areas
    • Syndromic and Non-Syndromic Intellectual Disability 
    • Fragile X Syndrome 
    • Autism Spectrum Disorders
    Summary

    Fragile X syndrome (FXS) is the most common cause of inherited mental retardation with a worldwide prevalence of 1/4000 in males and of 1/8000. Individuals with FXS exhibit a range of emotional and neurocognitive features including intellectual disability hyperactivity and attention problems, executive function deficits, hyperreactivity to stimuli, anxiety and mood instability, and ASDs. Fragile X syndrome is caused by a mutation int eh FMR1 gene leading to a deficit in FMR1 gene protein (FMRP). In general, the severity of the FXS physical phenotype and intellectual impairment is correlated with the magnitude of the FMRP deficit. 

    At this time, there is no specific treatment for FXS and clinical practice varies. The most common medications used to treat the FXS symptoms are stimulants (i.e. methylphenidate), selective serotonin reuptake inhibitors (SSRIs), alphaadrenoreceptor agonists, mood stabilizers, and antipsychotic medication. The use of any of these drugs is compromised by their limited efficacy and safety profile. 

    In recent years, there has been a new understanding of the neurobiology of FXS that involves the metabotropic glutamate receptor (mGluR). Based on the location and on the activity of mGluR in the central nervous system, there is a plausible relation between many of the phenotypic features in FXS and the deregulation of fragile X mental retardation protein (FMRP) activation. If this hypothesis is correct, mGluR antagonists should be a novel pharmacological approach to normalize the deficits caused by the lack of FMRP.

    Current Projects

    Clinical Research Trials of mGluR antagonists for the treatment of Fragile X syndrome in pediatric and adult patients.

    Selected Publications

    E. Lopez-Rangel and MI Van Allen. Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype. Birth Defects Res A Clin Mol Teratol. 2005 Nov; 73(11):919-23. 

    E. Lopez-Rangel and MES Lewis. Loud and clear evidence for gene silencing by epigenetic mechanisms in autism spectrum and related neurodevelopmental disorders. Clinical Genetics 2006 Jan; 69(1):21-2.

    M. Khashu, H. Osiovich, D. Rudman D, E. Lopez-Rangel (misprinted as E. Lopez) and S. Langlois. The tale of a Belly Button: Rieger Syndrome. Clin Pediatr (Phila). 2006 Jun;45(5):453-455. 

    E. Lopez-Rangel. Overlapping clinical phenotypes: the road to identifying dysmorphology signalling pathways and their associated risks. Clin Genet 2007: 71: 43–45.

    E. Lopez-Rangel. The neoplastic risk in children with Noonan syndrome and Costello syndrome. Clin Genet 2007: 71: 43–45.

    E Lopez-Rangel E, ECR Mickelson ECR, SME Lewis. The value of a genetic diagnosis for individuals with intellectual disabilities: Optimizing healthcare and function across the lifespan. British J of Dev Dis. 2008:54 (107): 69-82.

    Qiao Y, Tyson C, Hrynchak M, Lopez-Rangel E, Hildebrand J, Martell S, Fawcett C, Kasmara L, Calli K, Harvard C, Liu X, Holden J, Lewis S, Rajcan-Separovic E.Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability. Clin Genet. 2013 Feb;83(2):145-154. doi: 10.1111/j.1399-0004.2012.01860.x. Epub 2012 Apr 9.

    Grants
    Honours & Awards

    Scholarship to Study Abroad. Universidad Autonoma de Nuevo Leon, Nuevo Leon, Mexico Sept 1990 - Sept 1991

    Effie E. Lefaux Scholarship in Mental Retardation. University of British Columbia. 1991.

    Summer Student Research Scholarship. Vancouver Foundation. Vancouver, British Columbia. 1991.

    American Federation for Medical Research. Western Society of Pediatrics Scholar Award. Carmel, California, USA. 2007

    Research Group Members
    • Terry Vizcko, Research Associate
    • Isabel Gidles, MD
    • Charmaine Miranda, PhD