• Elliott, Alison


    Investigator, BC Children's Hospital
    Project Lead, CAUSES Clinic
    Clinical Associate Professor, Department of Medical Genetics, Faculty of Medicine, University of British Columbia

    Degrees / Designations
    PhD, MS, CGC, BScHons
    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    Lab Phone
    Liza Mak
    Assistant Phone
    604-875-2000 ext. 5626
    Mailing Address

    BC Women's Hospital
    Room C221
    4500 Oak Street
    Vancouver, BC V6H 3N1

    Affiliate Websites
    Research Areas
    • Limb deficiencies
    • Skeletal disorders
    • Genomics
    • Genetic counselling
    • Multiple congenital anomaly syndromes 


    Current Projects

    Skeletal Disorders: One of my primary research interests involves developmental abnormalities of the skeleton, in particular the limb. Split hand foot malformation (SHFM) is one example of a limb deficiency disorder. It is highly variable – both phenotypically and genotypically. Some affected individuals have a very mild form that may result in no missing digits and only affect one limb; whereas others may have a severe form that affects all four limbs. The existing classification systems for SHFM do not encompass the full phenotypic spectrum.  I am currently developing a new classification system for SHFM and am collaborating with other investigators to determine the genetic mechanisms in affected patients. I am also investigating how patients and families deal with limb deficiencies and plan to develop a care map for affected families. I am very interested in further understanding the interplay between the vascular and osseous systems within the developing limb. Through collaboration, we are investigating the potential role of certain growth factors in limb disorders that are thought to be “vascular” in nature.

    Genomics: I am currently spearheading the development of CAUSES (Clinical Assessment of the Utility of Sequencing and Evaluation as a Service) clinic. Over the last few years, genome-wide DNA sequencing has emerged as a robust method of identifying mutations that cause hundreds of serious or life-threatening conditions in patients with previously-undiagnosed diseases. By identifying the underlying cause, this test can provide specific information about what to expect in the future and access to targeted therapies that can save the lives or improve the health of people with rare genetic forms of heart, liver, kidney or bone marrow failure, developmental abnormalities, intractable seizures, metabolic diseases, rare cancers, severe adverse drug reactions or recurrent infections of unknown cause. Genome-wide sequencing is not available as a clinical test for most patients in BC who need it. The goal of the CAUSES Clinic is to make genome-wide sequencing available to find the cause of unexplained severe disease in British Columbia families. This integrated multidisciplinary program will assure equitable and cost-effective access to genomic testing through: clinical evaluation and selection of patients who are most likely to benefit; genetic assessment and counselling services for these patients and their families; high-quality clinical genome-wide sequencing for patients and family members, as needed;  efficient analysis and interpretation of the sequencing results in an appropriate clinical context; and multidisciplinary specialist consultation to improve clinical care on the basis of the information obtained.

    CAUSES Clinic is embedded in a set of interdisciplinary research activities that will provide the evidence needed to justify provincial funding for genome-wide sequencing as a regular clinical service for patients with severe undiagnosed diseases.

    Selected Publications

    Eshkar-Oren I, Krief S, Ferrara N, Elliott AM, Zelzer E. Vascular Patterning Regulates Interdigital Cell Death via a ROS-mediated Mechanism. Development (accepted).

    Elliott AM and Evans JA. Derogatory nomenclature is still being used: the example of split hand/foot. Am J Med Genet (in press).

    Elliott AM, Chodirker B, Bocangel P, Mhanni A. Evaluation of a Clinical Genetics Service – A Quality Initiative. J Genet Couns 2014; 23:881-889. PMID: 24647747.

    Friesen KJ, Chodirker BN, Chudley AE, Reed MH and Elliott AM. Radiographic Characterization of the Hands in Ritscher-Schinzel Syndrome. SpringerPlus 2013; 2: 594. PMID: 24255872.

    Elliott AM, Simard LR, Coglan G, Chudley AE, Chodirker BN, Greenberg CR, Burch T, Ly V, Hatch GM and Zelinksi T. A Novel Mutation in KIAA0196: Identification of a Gene Involved in Ritscher-Schinzel Syndrome in a First Nations Cohort. J Med Genet 2013; 50: 819-822. PMID: 24065355.

    Elliott AM, Mhanni AA, Marles SL, Greenberg CR, Chudley AE, Nyhof G and Chodirker BN. Clinical Genetics Encounters in Manitoba: Trends for Telehealth versus On Site Visits–A Comparative Study. Gen Couns 2012; 21: 337-344. PMID: 21997346.

    Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L. Microdeletion 9q22. 3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet A 2012; 158A(2):391-9. PMID: 22190277.

    Kozenko M, Grynspan D, Oluyami-Obi T, Sitar D, Elliott AM and Chodirker BN. Potential teratogenic effects of allopurinol: A case report. Am J Med Genet 2011; 155:2247-2252. PMID: 21815259.

    Elliott AM, Kibria L and Reed MH. The developmental spectrum of proximal radioulnar synostosis. Skel Rad 2010; 39:49-54. PMID: 19669136.

    Elliott AM, Bocangel P, Reed MH and Greenberg CR. A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. Gen and Mol Res 2010; 9: 1785-1790. PMID: 20830670.

    Elliott AM, Reed MH and Evans JA. Central Ray Deficiency with Extensive Syndactyly: A Dilemma for Classification. Gen Couns 2009; 20:27-43. PMID: 19400540.

    Friedman T, Reed MH, Elliott AM. The Carpal Bones in Poland Syndrome. Skel Rad 2009; 38: 585-591. PMID: 19183988.


    Phenotypic and Genotypic Characterization of Ritscher-Schinzel Syndrome Patients, Manitoba Medical Services Foundation, Principal Investigator

    Phenotypic and Genotypic Characterization of Ritscher-Schinzel Syndrome Patients, Manitoba Institute of Child Health, Principal Investigator

    Molecular Characterization of Skeletal Disorders in Manitoba Patients, Manitoba Institute of Child Health, Principal Investigator

    Honours & Awards

    2005 - 2007 Manitoba Health Research Council Postdoctoral Fellowship, Manitoba, Canada

    2005 Children’s Hospital Foundation Inc Major Award for Research in Pediatrics and Child Health, Manitoba, Canada

    2004 - 2005 University of Manitoba Students’ Union Scholarship, The University of Manitoba.

    2004 - 2005 Manitoba Graduate Scholarship.

    2004 David W. Smith Workshop Malformations and Morphogenesis Meeting Fellows Award.

    2004 Manitoba Health Research Poster Competition Prize for Excellence, Manitoba Medical Services Foundation, Winnipeg, Manitoba, Canada.

    2004 Canadian Institutes for Health Research National Poster Competition Silver Award.

    2003 - 2004 University of Manitoba Employee Scholarship, The University of Manitoba, Winnipeg, Manitoba, Canada.

    2002 - 2005 Phyllis J. McAlpine Graduate Fellowship.

    2002 - 2005 Manitoba Health Research Council Graduate Studentship.

    2002 - 2004 University of Manitoba Graduate Fellowship Award, The University of Manitoba, Winnipeg, Manitoba, Canada.

    2002 - 2003 University of Manitoba Students’ Union Scholarship, The University of Manitoba.

    1991 - 1992 University Research Council Scholarship, University of Cincinnati, Cincinnati, Ohio, United States.

    1990 - 1992 Tuition Remission Fellowship, University of Cincinnati, Cincinnati, Ohio, United States.

    1990 - 1992 Graduate Assistantship, University of Cincinnati, Cincinnati, Ohio, United States.

    Research Group Members
    CAUSES team:
    • Dr. Jan Friedman
    • Dr. Anna Lehman
    • Dr. Clara van Karnebeek
    • Shelin Adam MSc (Genetic Counsellor)
    • Kris Roberts (Project Development)