Biochemical Diseases

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 (www.tidebc.org).

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.

CLINICS

  • 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.

 

The Division of Biochemical Diseases 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: (www.tidebc.org)

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: http://www.ccgm.org/index.php/training/training-biochemical.html.

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 Diseases 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.

TRAINING PROGRAM GRADUATES

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:

James Joseph O’Byrne (Ireland) start date: July 1, 2016 – June 30, 2017.

Iman Abumansour (Saudi Arabia) start date: July 1, 2016 - ongoing.

May Al Malki, (Saudi Arabia) start date: July 1, 2016 - ongoing.

Sylvia Stockler-Ipsiroglu, MD, PhD, MBA, FRCPC

Professor of Pediatrics

Head Division of Biochemical Diseases

PI TIDE-BC

 

Gabriella Horvath, MD, PhD, FCCMG, FRCPC

Clinical Associate Professor

Director CCMG Biochemical Genetics Fellowship Program

Adult Metabolic Consultant at VGH

 

Ramona Salvarinova, MD, MSci, FCCMG, FRCPC

Clinical Assistant Professor

Deputy Head Division of Biochemical Diseases

Director TIDE Multidisciplinary Clinic

 

On Leave:

Jane Gillis, MD, MSc, FRCPC, FCCMG

Clinical Assistant Professor

Division of Biochemical Diseases

Department of Pediatrics

BC Children’s Hospital

 

CLINICAL CARE TEAM

 

 

From left to right:

Top row: Sally Lin, Transcription Clerk; Iman Abumansour, Clinical Fellow; May Al Malki, Clinical Fellow; Kathlen Duddy, Nurse Practitioner; Kathy Withers, Nurse; Stefanie Schaumann, Administrative Secretary; Ramona Salvarinova, Physician; Simone Race, Genetic Counsellor.

Middle row: Sylvia Stockler, Division Head; Gabriella Horvath, Physician; Susan Failanga, Nurse, Michelle Sebastiano, Clinical Secretary; Delia Apatean, Research Assistant; Kendra Tapscott, Dietitian.

Bottom row: Ruth Giesbrecht, Clerk, Nataliya Yuskiv, Research Manager; Aisha Ghani, Research Coordinator; Gloria Ho, Research Assistant; Alette Giezen, Dietitian; Mir Lafek, Transcription Clerk, Tami Kolb, Social Worker, Keiko Ueda, Dietitian.