Biochemical Genetics

Dr. Sylvia Stockler, Division Head

Dr. Sylvia Stockler, Division Head

As a multi-professional team we are committed to providing the highest diagnostic and therapeutic standards to our patients with metabolic and genetic conditions affecting development and organ function.

The spectrum of conditions spans from disorders of amino acid, fatty acid, carbohydrate metabolism to lysosomal, mitochondrial, peroxisomal, and cellular transport and trafficking disorders.

To ensure that every single child with a biochemical genetic condition in BC has access to treatment, we have developed a protocol that allows screening all children with unexplained developmental conditions for treatable biochemical genetic conditions (

For those patients who have remained undiagnosed after application of standard biochemical tests, we provide next generation sequencing which helps to establish a diagnosis in more than 50 percent.

Our program is also strongly committed to offering participation in clinical trials for innovative therapies.


  • Metabolic follow up clinic
  • PKU Clinic
  • Nurse Practitioner Clinic: for patients with MCAD, CPT1 deficiency and chronic stable conditions
  • ERT Clinic: for Enzyme replacement therapies for lysosomal disorders.
  • Neurometabolic clinic: in close collaboration with the division of neurology and community neurologists.
  • TIDE clinic: for children with undiagnosed developmental conditions, which are in close collaboration with community pediatricians and medical genetics
  • Multidisciplinary diagnostic clinic for particularly complex patients.
  • Overall, we have over 1000 clinic visits per year and seeing up to 300 new referrals per year.

UPDATED Aug 5 2021

The Division of Biochemical Genetics actively participates in the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). CIMDRN provides the evidence needed to improve outcomes and health care services for children with inborn errors of metabolism (IEM).

IEM are a group of rare genetic diseases that affect metabolic pathways and can lead to a variety of clinical symptoms. Nearly all IEM treatment centres across Canada are participating in CIMDRN. This partnership will allow assembling information on treatments and health outcomes for a large group of participating children with IEM, together with their families. Families will have an opportunity to contribute information about their experiences with care for IEM and their own well-being.

CIMDRN team of investigators has expertise in clinical care for IEM, pediatric research, health services and policy research, and epidemiology. Working together, we will evaluate current approaches and make recommendations to improve care for children with IEM.

TIDE Clinic: (

Our research aims to establish and validate new diagnostic and therapeutic pathways for children with genetic causes of developmental and intellectual disabilities.

Between 2011 and 2015 we have developed and implemented an evidence-based protocol that allows the screening and diagnostic assessment of children with unexplained neurodevelopmental conditions for treatable causes of intellectual disability. The protocol includes 3 tiers, starting from community based screening to specialized diagnostic assessment to next generation sequencing.

The TIDE study (2011-2015), funded by the BC Hospital Research Foundation as a collaborative area of innovation, has shown that 6 % of children with developmental disabilities have biochemical genetic conditions for which already now causal treatments are available. As part of this study we applied exome sequencing in 41 patients and we could establish a diagnosis in the majority (n=37), including two new gene discoveries (CAVA deficiency, NANS deficiency) and novel candidate genes.

CAUSES Clinic: (Clinical assessment of the Utility of Sequencing and Evaluation)

This clinic is a unique research program established in extension of the TIDE program and in a joint collaboration with TIDE investigators and investigators from Medical Genetics and the CMMT (Centre for Molecular Medicine and Therapeutics) at the BC Children’s Hospital Research Institute.

Innovative Therapies:

We are participating in international clinical trials for treatment of rare biochemical genetic disorders and are performing n=1 trials to offer patients innovative therapies which are not yet available as clinical trials.

As co-investigators in CIMDRN (Canadian Inherited Metabolic Disease Research Network) we are contributing with our clinical data to a national observational database, which will help to create practice informed evidence for treatments of conditions diagnosed by expanded newborn screening.

In collaboration with the nutritional research unit at BC Children’s Hospital Research Institute (Dr. Rajavel Elango) we are creating a research pipeline including in vivo stable isotope testing for the development of innovative nutritional therapies for children with disorders such as PKU, pyridoxine dependent epilepsy and cerebral creatine deficiencies.

We are a CCMG accredited training site for biochemical genetics and are training Canadian and international fellows. Training guidelines are available at:

The BG training program is at the intersection of complex chronic care, biochemical laboratory medicine and medical genetics. It is thus open for both MDs coming from pediatrics, neurology, internal medicine or genetics, as well as for PhDs and lab scientists. The training includes rotations to Biochemical Genetics, Molecular Genetic- and Cytogenetic Laboratories and the Department of Medical Genetics. Participation in the Transition program and rotation to Adult Metabolic Clinic at VGH ensures that the gains in survival which have come with advances in the treatment of these diseases in children are translated into adulthood.

The Division of Biochemical Genetics also offers electives for residents in pediatric Neurology, Gastroenterology and Medical Genetics, as well as clinical Biochemical Genetic fellowships outside the CCMG accredited training program for international trainees.


Dr. Majid Alfadhel (Saudi Arabia), July 2007 – Nov 2010.
Dr. Catherine Brunel-Guitton (Montreal), Oct 2009 – Mar 2011.
Dr. Khalid Al-Thihli (Oman), July 2009 – July 2011.
Dr. Fuad Al-Mutairi (Saudi Arabia), Mar 2010 – Mar 2012.
Dr. Clara van Karnebeek (The Netherlands), May 2010 – Dec 2011.
Dr. Malak Al Ghamdi (Saudi Arabia), Jan 2010 – Dec 2014.

Current Fellows:

Mehdi Yeganeh (Montreal) start date: July 13, 2020 – May 12, 2022
Shaymaa Shurrab (Toronto) start date: July 1, 2020 – June 30, 2022

Sylvia Stockler-Ipsiroglu, MD, PhD, MBA, FRCPC
Professor of Pediatrics
Head, Division of Biochemical Genetics

Gabriella Horvath, MD, PhD, FRCPC, FAAP, FCCMG
Clinical Associate Professor
Director CCMG Biochemical Genetics Fellowship Program
Adult Metabolic Consultant at VGH

Ramona Salvarinova, MD, MSci, FCCMG, FRCPC
Clinical Associate Professor
Clinical Director, Division of Biochemical Genetics
Director TIDE Multidisciplinary Clinic
Medical Lead

Catherine Brunel-Guitton, MD, FRCPC, FCCMG
Clinical Associate Professor
Division of Biochemical Genetics
Department of Pediatrics

Clinical Fellows:
Dr. Shaymaa Shurrab
Dr. Mehdi Yeganeh
Dr. Caoimhe Howard


Clinic Nurses
Susan Failanga
Kendra Schiissler
Gloria Ho
Kendra Tapscott
Kaitlin March
Genetic Counsellor
Simone Race
Social Worker
Sara Thiessen

Clerical Staff
Michelle Sebastiano (Clinical Secretary)
Sally Lin (Administration)
Mir Lafek (Adminstration)

Nataliya Yuskiv (Research Manager)
Delia Apatean (Study Coordinator)
Maria Boldut (Research Assistant)
Maria Bleier (Research Assistant)
Hedi Chable (Research Assistant)