Optimization of genetic counselling with clinical implementation of genome-wide sequencing
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.
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.Grants
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
Phenotypic and Genotypic Characterization of Ritscher-Schinzel Syndrome Patients, Manitoba Medical Services Foundation, Principal InvestigatorHonours & Awards
2004 - 2005 University of Manitoba Students’ Union Scholarship, The University of Manitoba.
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
2018 Canadian Association of Genetic Counsellors National Award: Professional Practice, Innovation and Advocacy Leadership AwardResearch Group Members
Courtney Cook, Undergraduate Student
Alivia Dey, Research Staff
Angela Siemens, Undergraduate Student