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.
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.
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