Congratulations to the following Can-Gard/Centre for Genetic Medicine CLINICAL AND RESEARCH FELLOWSHIP IN ADVANCED GENOMICS IN PAEDIATRIC RARE DISEASE recipients:

2018 – Dr. Laurence Gauquelin

Dr. Laurence Gauquelin is a paediatric neurologist currently working at the CHU de Québec – Université Laval, in Quebec. She completed residency training in Paediatric Neurology at McGill University in 2018, and then became the first clinical and research fellow in Advanced Genomics in Paediatric Rare Disease at The Hospital for Sick Children, affiliated with the University of Toronto.

Dr. Gauquelin is regularly involved in the care of children with rare neurogenetic disorders. Her specific interests focus on genetic movement disorders and neurodegenerative diseases. During her fellowship, she contributed to five clinical research projects on genetic ataxias and leukodystrophies. She hopes that her work in the description and characterization of rare neurogenetic diseases will help other clinicians recognize and identify these conditions, and ultimately improve collaborative clinical care for children with disabilities and their families.

2020 – Dr. Jason An

Dr. Jason An completed his Bachelor of Science (Hons) with Distinction, at the University of Toronto. Following university, he went to medical school in Calgary and then completed a residency in Internal Medicine in Edmonton. Here, he discovered an interest in working with complex undifferentiated patients, which prompted him to pursue a Rheumatology fellowship at McMaster University.

His clinical interests span the autoinflammatory and immune dysregulation diseases, most of which are genetically driven. Diagnosis of such conditions can be challenging, particularly when gene panels are (often) unable to identify causative mutations. His research therefore focuses on analyzing the exomes of these patients to identify novel genetic variants underlying their immune dysregulation. Through this Fellowship and beyond, he hopes to strengthen collaborations between the naturally related fields of rheumatology, immunology, and genetics. With the increasing integration of genomic technologies into the rheumatic diseases, he also hopes to promote genomics education in rheumatology training.