Associate Professor, Department of Medical Genetics
Alberta Children's Hospital
2888 Shaganappi Trail, NW
Calgary, AB T3B 6A8
The overall aim of my clinical and research program is enhanced delivery of care (precision medicine) to patients with rare genetic diseases. This is necessarily best accomplished through more timely, accurate and comprehensive diagnosis. Other important considerations are patient advocacy and education of specialist and non- specialist physicians on recognition of rare diseases and on understanding and interpretation of results generated by novel technologies. My research therefore occurs primarily in four overlapping areas.