With genome sequencing becoming ubiquitous, some of the biggest challenges to the understanding of human genetic diseases are becoming ones of data availability and access. In this talk I will describe a number of efforts to share genetic and phenotypic information across Canada and around the world. In particular, I will talk about PhenomeCentral and the Matchmaker exchange, two services that our team helped to put together for the sharing of data on rare diseases, the Canadian Distributed Genomics Project, a collaborative effort across Montreal, Toronto and Vancouver to build the technology to share large scale sequencing data generated across the country, and the Computer Science approaches such as Data Federation that enable tools such as these.

This talk will focus on crowdsourcing mobile apps for genomics research and present the ethical, legal and policy issues surrounding them. As novel tools for precision medicine research, these apps also present new challenges in consent, data sharing and communication of results. This talk will elaborate on these and showcase examples from the major app stores.

In recent years, novel biotechnologies have allowed us to obtain information at the molecular level for specific individual. These ‘omics’ data sets hold the promise to reveal the molecular causes of the differences between humans in their risk of developing disease. In parallel, recent advances in machine learning have led to the development of powerful methods for making predictions from large data sets, however, machine learning on individual omics signatures are lagging behind. In my talk, I will present the current challenges in the field and solutions explored in my research group to appropriately use machine learning with omics data to inform precision medicine.

The lysosomal storage diseases are a group of inherited, multisystemic, progressive disorder resulting from enzyme deficiencies that lead to the accumulation of glycosaminoglycans. Approximately 2/3 of these disorders result in neurological deterioration and our treatment for these patients is sorely lacking. This talk will focus on novel therapies aimed at improving outcomes in neuronopathic LSDs

Cancer patients of non-European ancestry are underrepresented in research and clinical studies. The use of next-generation sequencing for cancer diagnostics has increased over the past decade and created opportunities to leverage real-world data for disparities research. In this talk, we will discuss ancestry-driven biases in biomarker detection and how genetic ancestry will help broaden our knowledge about cancer biology and improve precision medicine for all.

Peroxisome biogeneiss disorders are caused by recessive defects in any one of 14 genes whose protein proudcts are required for peroxisome assembly and functions. The molecular and clinical heterogeneity in this group of disorders has been challenging for treatment approaches. This talk will focus on how understanding the biology can expedite personalized treatments.