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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The Lysine –Restricted Diet as Novel Add-On Therapy for Pyridoxine Dependent Epilepsy: PDE Consortium’s Consensus Recommendations

Among the most recent TIDE publications are the consensus recommendations for lysine –restricted diet as new add-on therapy for PDE. This paper is the result of several international PDE Consortium Workshops (2010-2013), a platform uniting expert physicians and scientists in the field of this metabolic epilepsy. Published in JIMD Reports, these Recommendations aim to standardize the implementation and monitoring of patients using the new diet in addition to vitamin B6 treatment, with the goal of improving neurodevelopmental outcomes: about 75% of patients with PDE due to antiquitin (ATQ) deficiency suffer from developmental delay and/or intellectual disability despite receiving treatment for seizures. The 2012, a landmark paper by Dr. Clara van Karnebeek in collaboration with Canadian, German (Dr. Hans Hartmann and colleagues) and USA (Dr. Johan Van Hove and colleagues) centers, showed that adjunctive treatment with a lysine-restricted diet is safe, and prevents brain damage via lowering toxic lysine intermediates in the brain. Potential benefits included seizure control and improved psychomotor development in this patient population.
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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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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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DiagnClinic
In our second newsletter of 2013, we focus on the value of collaborative medicine to provide individualized patient care. Initiatives such as the TIDE Complex Diagnostic Clinic (TCDC), unite the expertise of over 25 clinical and laboratory specialists to provide a causal diagnosis for children with complex neurologic conditions who remain a mystery despite endless clinic visits and the “million dollar” work up. The TCDC is meticulously prepared and run: during one morning, 3 to 4 patients are each evaluated by several specialists, who participate in the clinic on a rotational basis. The children’s cases are then discussed during multidisciplinary rounds to formulate a differential diagnosis and plan for investigations.

In a manuscript recently submitted by the TCDC team for publication in the journal Genetics in Medicine, we report our experience with 7 clinics held over the first 16 months since its establishment in 2011. For the 24 children assessed in these clinics (seen by up to 10 specialist services prior to the TCDC), the diagnostic yield was higher than expected with confirmed and working diagnoses in 9 (38%) and 11 (46%) children respectively. Costs savings resulted from fewer trips to the hospital and fewer tests resulting from more streamlined evaluations.
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pediagogue
The Department of Pediatrics of BC Children's Hospital published her Winter 2012-13 issue of "Pediagogue" magazine online. In this issue the TIDE program is highlighted as of page 24.

A copy of the article can be downloaded here.

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TIDE has presented it's first year results in december 2012. This interim evaluation comes at 15 months of full TIDE operations, reporting deliverables and milestones achieved during the first term of our 36-month research and care program. While this is a very short period over which to demonstrate improvement of child health and bridge the ring-road between CFRI/CMMT and the hospital, most outcomes integral to supporting TIDE’s vision have been achieved and even exceeded during this time.
The key achievements shown in the interim evaluation lay the foundation for TIDE’s most sustainable activities into the future. Our team rides this wave of innovation and collaboration with only one mission: to improve the health and wellbeing of children and youth in British Columbia.

The evaluation report is downloadable here as pdf file (53 pages, 5MB).

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logo-RIDEtheTIDEblacksmall
"Innovative mental Health initiative calls on donors to Ride the Tide", is the title of a short article in the philanthropy special of today's Globe & Mail.
Now that the TIDE project has been successfully up & running for one year it's time to look forward to the years ahead. One important aspect is funding. To secure the continuation of the program in the years ahead we've asked a wonderful group of people to help us to organize an unique and special fundraise event…ideas went back & forth and the outcome is a Car Rally in September 2013 to raise funds for the TIDE program: RIDE the TIDE. Further details will be announced this spring. One thing we know for sure, it promises to be a unique event! More details can be found on the RIDE the TIDE website www.ridethetide.ca.

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Medical post TIDE
The Medical Post has featured a story on TIDE BC in their November issue "Turning the TIDE for children with Intellectual Disability".

"A group of physicians and scientists at BC Children’s Hospital (BCCH) is dramatically shifting the way diagnosis and treatment of intellectual disability is done. Launched in October 2011, the Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC) program includes new interventional and therapeutic approaches that are taking children with intellectual disability from fully dependent care to being able to participate in and contribute to society.", the article starts.

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Within 1 year of establishing its research and clinical care program, TIDE-BC:
  • discovers a new Treatable Intellectual Disability which expands our understanding of intermediary metabolism (read more...)
  • is the 1st world-wide to report promising results of new therapy for a metabolic epilepsy (read more…)
  • publishes on the www.treatable-id.org App as clinical tool to improve care for diseases (read more…)
The above is proof that TIDE succeeds in the missions they set out to accomplish in 2011:
  1. bridging the Ringroad & Translation of Knowledge into Better Care;
  2. increasing the number of treatable intellectual disabilities, from 81 in 2011 to 82 (and counting) in 2012;
  3. establishing global leadership in the field or rare metabolic diseases.
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An international consortium established by Tide-BC members met early in September 2012 to reach consensus on protocols for implementing and studying dietary lysine restriction as novel treatment for Pyridxone Dependent Epilepsy.
BC Children’s Hospital researchers lead the collaboration of clinicians and researchers across Canada, Europe and the USA, and are publishing exciting first results of an intervention which can dramatically improve outcomes of affected affected patients.
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The 'Rare Disease Report' website, an independent voice on rare diseases, features TIDE-BC with focus on the treatable intellectual disability APP. In an interview, Clara van Karnebeek highlights the innovative approach to developmental delays at BC Children's Hospital. The full article is available here.
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Launched in November 2011, in the presence of Mr Larry Gold and colleagues at BC Children’s Hospital and other UBC institutions, the TIDE App has now been rocketed (via a publication in the Orphanet Journal for Rare Diseases) into the world to facilitate the diagnostic work-up of intellectual disability patients. Recent numbers show that the app is visited & used by 300-400 new people every week!
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Both the TIDE BC project and the Treatable-ID.org App are based upon a systematic literature review, performed by Dr. Clara van Karnebeek & Dr. Sylvia Stöckler. This review, titled: "Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review" identifies 81 inborn errors of metabolism which are causally related to intellectual disability and amenable to
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