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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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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Who I Am
My name is Marion Thomas. My first career was in equestrian sports where, for many years, I competed at the National and International level three-day eventing. After many years of successful competition, I turned my attention to academics and science, receiving a PhD in Molecular and Cellular Cardiology from Simon Fraser University in 1996.
In December of 1998, I moved, with my husband, to Oslo, Norway, where I began my second postdoctoral fellowship in the Department of Anatomy, Faculty of Medicine, University of Oslo.
Marion_Thomas
In 2002, my twins were born, while I was in my third year of my studies in Oslo. In 2004, contract completed, myself and my family moved back to Canada, where I worked as a laboratory manager in the Huntington Research Laboratory. After two years I became interested in the impact that academic research was having on clinical research so I transitioned into my current position as Senior Research Manager in the Department of Medical Genetics, Clinical Division.
I currently work in many different capacities assisting clinicians to conduct their research. This includes managing all aspects of the Rare Disease Foundation Microgrant program, organizing rounds for the Genetics & Health Cluster, and last but not least —being involved with the front-running TIDE Team.
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app
Our clinical tool, available via the website treatable-id.org, has a steady user base. Clinicians & scientists can use a mobile version of the tool by simply visiting the website from their device (phone or tablet).

As of last week the tool is available for IPhone and IPad via the App Store as well. Besides the diagnostic tool the app offers additional information on the TIDE program (news, the protocol, movies etc.). You can find the app in the App Store (via this link) and download it for free.
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Mason was just 2 months old when he was put on anti-seizure medication. It quickly became evident that he was unresponsive to the medication and only responded to the vitamin B-6 (pyridoxine) and folinic acid therapy. However, once diagnosed with pyridoxine dependent epilepsy (PDE), a metabolic form of epilepsy, Mason began treatment which changed the course of both his life and his mother’s. Without realizing it, Mason has helped lead the way for other children suffering from the same inborn error of metabolism. His treatment -a lysine restricted diet- is a medical therapy pioneered though TIDE-BC. Mason was among the first patients with PDE worldwide to be successfully treated by by this medical diet in conjunction with vitamin B6, a therapy which has been developed and studied by the TIDE-BC team in collaboration with German neurologists.

READ MASON'S FULL STORY HERE

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Prof. Sylvia Stockler and Dr George Alexander were at the World Symposium for Lysosomal Diseases in Orlando Florida this past week presenting a scientific poster describing the TIDE-BC-supported MorquioBetter Patient Registry & Database and meeting up with other members of the MorquioBetter Consortium.

PDE Consortium
They had the opportunity to not only present the MorquoiBetter Project to a global audience involved in rare and orphan diseases, they were also able to have one-on-one discussions with other consortium members and fellow symposium attendees as to how we can best use and mature this Registry/Database in a way that encourages and supports more research into Morquio B Disease and GM-1 Gangliosidosis.

The other consortium members who attended were Prof. Werner Windischhofer, Univ. Graz, Austria; Prof. Michael Beck, J.G. Univ. Mainz, Germany; Prof. Eduard Paschke, Univ. Graz, Austria; Prof. Yoshiyuki Suzuki, Int. Univ., Otawara Japan, Prof. Roberto Giugliani, UFRGS, Porto Alegre, Brazil and Prof. Cynthia Tifft, NIH Bethesda Maryland.

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MEshop
Compared to the human reference genome, a single exome can reveal over 120,000 variations. In order to facilitate the discovery of causal variations, filters such as frequency, mutation type, and mode of genetic inheritance are often employed. However, even after filtering for rare non-synonymous mutations, over 50 candidate genes may remain. Manually going over the literature for each gene and matching to the clinical phenotype is time consuming and inefficient.
To speed up the process of literature review, Warren Cheung from the Wasserman lab has designed a tool called MeSHOP.

The tool is useful when the researcher has a clinical phenotype in mind and wishes to know what genes are associated with that term. Simply supplied with a MeSH (Medical subject heading) reflecting the clinical phenotype, the program looks at the PubMed articles for each gene and extracts a list of over-represented MeSH terms. It then builds an internal “dictionary” based on that list and evaluates the strength of association between a gene and the input query. For output, the program summarizes a list of ranked genes predicted to be associated to the MeSH input above a chosen statistical threshold.
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One of the objectives of TIDE-BC is development of tests by a relatively new technology called tandem mass spectrometry (TMS). With TMS, a large number of metabolites can be measured simultaneously to screen for treatable metabolic disorders.

judie
Supported by TIDE, work is underway to develop a comprehensive amino acid panel for the diagnosis and monitoring of a variety of treatable amino acid and urea cycle disorders. Test development includes oxysterol analysis to screen for Niemann Pick type C, for which there is a new treatment. To increase capacity further for new test development, a fundraising effort was launched by Dr. Vallance and Dr. Sinclair (BGL Lab Scientists) to acquire an additional TMS instrument. Over $90,000 was raised from personal donations and industry sponsors, as well as a contribution from TIDE-BC, with the difference generously provided by the Provincial Health Services Agency.
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Sravan
Sravan J, a PhD student working with Jean Paul Collet, is a passionate collaborator and proponent of personalized medicine. Arriving from India in 2011, with a background in industry, Sravan joined BC Children’s Hospital specifically to work on the TIDE project. His PhD is focused on demonstrating evidence for the efficacy of personalized medicine, a perfect fit with TIDE, which shares the same focus in rare diseases.

While collectively, 5% of the population suffers from a rare disease, separately, each disease and its possible treatment requires individualized care and demonstration of evidence. “Diagnosing children with rare diseases as early as possible not only aids in the development of novel therapies, but also significantly improves their quality of life and that of their families,” Sravan says.
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