Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.

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MajaTarailoGraovac
Who I Am
I am a geneticist who combines knowledge and training in biochemistry, medical genetics, cell biology, bioinformatics, arts and teaching to accelerate discovery of new pathogenic variants of known and unknown genes that lead to disease, using whole exome sequencing (WES) and whole genome sequencing (WGS) methods.

What I do for TIDE
I am leading Wasserman’s group in applied genome analysis efforts to develop efficient methods with which to utilize next generation sequencing (NGS) advances and facilitate their translation into clinical practice. As a member of TIDE’s computational research team, we have successfully established a computational pipeline for high throughput processing of sequencing data, variant calls, variant prioritization and optimal delivery of visual and understandable candidate variant lists for clinicians. Currently, using this pipeline in our trio-based analysis (father-mother-child), we are able to process raw fastq sequencing files and deliver an annotated list of variants to clinicians in 1-2 days (8-16 hours).

Special accomplishments for TIDE
At TIDE, we work as a family to combine our strengths for timely diagnosis of rare genetic diseases. We work around the clock with hopes of discovering new/optimal treatments thereby improving lives of patients and their families at BCCH and beyond.
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The TIDEX team publishes their new discovery: "Carbonic anhydrase VA deficiency as novel and treatable cause of hyperammonemia in the young child" in the American Journal of Human Genetics, February 2014 (click here for the Epub ahead of print).

newborn
Read more about the research of our UBC team in collaboration with colleagues in the USA, UK, and Australia, via the UBC Faculty of Medicine website ("Genetic discovery helps newborns beat a life-threatening condition").



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While it’s true that having a child will change your life in ways you cannot possibly imagine, for Krystal Shipley this saying was to have a very special meaning. Her now 3-year old son, Azyac, is thought to be the only person alive with a rare genetic condition called RMND1 deficiency, which causes a type of fatal mitochondrial disease. Diagnosed by the physicians at BC Children’s TIDE-BC program when he was two years old – Ayzac is also helping move medical science forward. “He’s my hero” Krystal said.

READ AYZAC'S FULL STORY HERE…


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This November, Dr. Sylvia Stocker and TIDE investigators Drs. Clara van Karnebeek, Theresa Newlove and Nataliya Yuskiv, together with an international team of investigators, have had a landmark paper on GAMT deficiency accepted for publication in Molecular Genetics and Metabolism. The article presents follow-up data on 48 GAMT-deficient patients. This is the largest cohort described in the 19 years since the discovery of this ultra-rare disease by Dr. Stockler and a team of pediatric neurologists, biochemists and physicists in Germany.

GAMT deficiency is an inborn error of creatine synthesis, which results in intellectual and motor disability, autism, and epilepsy. This paper details potentials and limitations of the currently available treatment modalities (creatine and ornithine supplements and dietary arginine restriction) and clinical outcomes monitored from several months up to 16 years. It discusses the influence of the age at treatment onset, making the case that it is much better to diagnose and initiate a treatment very early, e.g. within the first weeks/months of life.
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Recently, Dr. Carlo Marra, Pharmaceutical Sciences, UBC, together with Dr. van Karnebeek and colleagues at UBC, completed a paper detailing the health economic analysis of a new diagnostic screening method for early diagnosis of Niemann Pick type C (NP-C) disease in patients with intellectual disability (ID). The authors show that screening this patient population as early as possible for NP-C, using a novel oxysterol method, provides a cost benefit over selective testing done later in a child’s development using molecular analysis and invasive skin biopsies, which is current practice.
Most importantly, application of this innovative oxysterol methodology as a screening approach among intellectually disabled children, reduces diagnostic delay, which, in patients with NP-C, is critical given the neurodegenerative and potentially life-threatening nature of the disease: Early diagnosis of NP-C is essential, as it facilitates early treatment with Miglustat and prevention of brain damage and severe impairment. Considered rare and potentially fatal, NP-C has an estimated prevalence of roughly 1 in 120,000 live births, however, it is often missed or underdiagnosed due to the its heteroegenous clinical presentation.
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me_photo
Who I Am
I am a fine art photographer based out of Vancouver. I specialize in photographing lifestyle, fashion, weddings and commercial projects.

What I do for TIDE
I photograph children and families involved in the TIDE program, in part to document the children’s progress, and to give the families the opportunity to have photos taken together.

Why Photographing the Families Makes A Difference
I believe that in my small way, I can give the families a gift. It can be a difficult time for the families of a child suffering from a rare disease, like the children we see at the TIDE clinic. But the families are always so appreciative of having photos of them all together.

5 Things I Would Take With Me To A Deserted Island
• Sun hat
• Good book
• Surfboard
• The love of my life
• Good bottle of wine

Visit Melissa's website here

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CvanKarnebeek_2
Congratulations to TIDE BC's Dr. Clara van Karnebeek for receiving the 2013 Maud Menten New Investigator Prize (Clinical Theme).

This prestigious award is presented by the Canadian Institutes of Health Research (CIHR) Institute of Genetics (IG).

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Tour_the_TIDE
The inaugural Tour de TIDE charitable fundraiser car rally supporting TIDE-BC research at BC Childrens Hospital
has been postponed to 2014.

The TOUR de TIDE Organizing Committee wishes to extend sincere gratitude to our esteemed sponsors and supporters who stepped
up to support this innovative fundraiser. We will continue working towards our benchmarks to ensure all objectives are met.

Please watch out for an announcement of a 2014 date, which will be released once all logistical details are confirmed.

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