Department of Paediatrics | Annual Report 2012
Section of Medical Genetics Highlights – Clinical Care, Education, Research and Service to Society • Dr. Aneal Khan led a multidisciplinary team at ACH who successfully performed Canada’s first liver cell infusion therapy for patients with Urea Cycle disorders. These are a devastating group of metabolic conditions that result in the accumulation of neurotoxic ammonia. The first liver cell transplantation was successfully performed on a young 3-month-old patient from Winnipeg. ACH will very likely remain as the only Canadian centre to perform this treatment. Our metabolic clinic is developing a significant program in novel therapeutics and in 2013 we anticipate performing ACH’s first gene therapy treatment for Fabry disease. (Picture included with Dr. Khan and Family) • Initially funded in 2011, FORGE Canada is a large multicentre effort to identify
Annual Report 2012 | Department of Paediatrics
genes for rare disorders using next generation sequencing approaches. Our clinic is one of the largest contributors to FORGE Canada with dozens of active projects. One of these, led by Dr Bernier, identified the gene for Nager syndrome in 2012 and further successes anticipated in 2013. • We partnered with paediatric neurology to host a Tuberous Sclerosis workshop with invited international experts. This event was supported by generous donations from community fundraising. We continue to be supported by our community and families and their efforts are greatly appreciated. • Dr. Michael Innes was named National Coordinator to Orphanet: an international organization whose aim is to improve the diagnosis, care and treatment of patients with rare diseases. This appointment reflects his reputation nationally for his expertise in rare disorders.
patients and patients from South Eastern British Columbia. The clinic has grown to one of the largest in Canada and provides both general as well as subspecialty clinic services to over 6000 patients and families a year. • 24/7 Inpatient and Emergency Outpatient Consultation and Admitting Services • Ambulatory Clinics and Services ·· Genetics çç Paediatric dysmorphology çç General Genetics çç Prenatal genetics çç Cancer Genetics
çç Neurogenetics çç Ophthalmic Genetics çç Cardiogenetics çç Connective Tissue Disorders ·· Metabolic Disease Clinic çç General Metabolic Clinic çç Lysosomal storage disorders çç Mitochondrial Disorders çç Phenylketonuria Clinics ·· Outreach çç Outreach clinics occur on a monthly basis in Medicine Hat, Lethbridge and Red Deer.
Photo by: Paul Rotzinger
Physician/Faculty Listing Dr. Francois Bernier *– Section Chief Dr. Mary Ann Thomas* - PGME Program Director Dr. Robin Casey* Dr. Patrick Ferreira* Dr. Michael Innes* Dr. Aneal Khan* Dr. Julie Lauzon* Dr. Brian Lowry * Dr. Ross Mcleod* Dr. Renee Perrier* Dr. Rebecca Sparkes* *Paediatric AARP Members
Clinical Services Provided
Photo by: Paul Rotzinger
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The section provides comprehensive clinical genetics and metabolic clinical services for Southern Alberta. The metabolic group also acts a referral service for Saskatchewan
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