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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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.


To that end, Sravan, together with other TIDE leaders, is spearheading the development of clinical studies designed to establish the efficacy of personalized therapies in the management of rare diseases. The work is both local and international in reach. “Because we are focused on rare diseases, we are collaborating wherever possible to establish patient networks. This will serve to generate larger bodies of clinical evidence. We began with the Biochemical Diseases, Neurology and Medical Genetics departments at BC Children’s. Currently, we are leveraging patient advocacy groups both locally and globally.

By way of example, Sravan and the TIDE team are working with leaders from Toronto, Seattle, Colorado, Germany, the Netherlands and Switzerland on the development of a new treatment protocol for Pyridoxine Dependent Epilepsy. So far the results are encouraging, and demonstrate that early intervention in this rare disease can improve patient outcomes.

While Sravan is passionate about his work, he does find time to play. In his free time, he enjoys doing voluntary work or extreme sports like paragliding and scuba diving.



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