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Showing posts from September, 2014

Monarch teaches at the International Summer School for Rare Disease Registries

Last week, I had the pleasure of teaching at the National Centre for Rare Diseases hosted by the Istituto Superiore di Sanità and Dr. Domenica Taruscio. This rare disease registry course is in its second year, and is focused on exposing the maintainers of rare disease registries various aspects of registry planning and management. I was very impressed with the specific way in which this course was run. The week started with a discussion of the different types of registries (aims, study design, data sources), management sustainability, and clinical outcomes analysis. This was followed by an innovative collaborative learning exercise in the afternoon, where the participants were broken up into three groups. The collaborative learning focused on positive interdependence, individual accountability, face-to-face interaction, group processing and exercise of small-group interpersonal skills - all skills needed to realize a quality registry resource in addition to simply being a quality peda…

Monarch presenting at ASHG 2014, Oct 18-22, San Diego

We'll be heading to American Society for Human Genetics 2014 conference in San Diego, October 18-22. Please check out our work in the following sessions:
170. PhenomeCentral: An integrated portal for sharing patient phenotype and genotype data for rare genetic disorders. Mon Oct 20 5:30p. Concurrent Platform Session C: From Bytes To Phenotypes. Hall B1, Ground Level, Convention Center
Michael Brudno will present the new data sharing portal PhenomeCentral, which facilitates the identification of phenotypically similar patients, utilizing the Human Phenotype Ontology (HPO) for linking patient phenotypes. Monarch contributes the API for the Annotation Sufficiency metric, actively develops on the HPO, and has provided user testing and documentation. Cases from our work with the NIH Intramural Undiagnosed Disease Program (UDP) have been deposited into PhenomeCentral.1499T.Standardized phenotyping enables rapid and accurate prioritization of disease-associated and previously unrepor…

NIEHS workshop on defining language standards for environmental health

This week Monarch team members co-chaired and attended a National Institutes of Environmental Health Science (NIEHS) workshop on Development of a Framework for an Environmental Health Science Language (agenda & report). From Love Canal to Chernobyl, from the Clean Water Act to pending regulation of dietary supplements, what we breathe and what we eat is known to contribute to human health outcomes. Consistent capture, transmission, and analysis of these data for comprehensive use in multiple research and clinical environments depends upon standardization and integration of the data across multiple disciplines.

Because we need to compare phenotypes based upon both genotypes and environmental variables over time, Monarch is very interested in understanding ways to represent and integrate these data. We currently have a great diversity of model and human environmental data: reagents targeting specific gene products, physiological perturbations such as exposure to light, drug treatme…