Innovative technology applied to rare disease research focus of annual Rare Disease Day Symposium

This year’s symposium will focus on the application of informatics in rare disease research.

RareDiseaseDayJoomlaThis year’s symposium will focus on the application of informatics in rare disease research.The University of Alabama at Birmingham will present the seventh annual Rare Disease Day Symposium on Friday, Feb. 21. The event is hosted by the UAB School of Medicine, the UAB Center for Clinical and Translational Science, Children’s of Alabama, and the Alabama Genomic Health Initiative.

This year’s symposium will focus on the application of informatics in rare disease research. Attendees will learn about the latest genomic discoveries and technology innovations driving rare disease research and precision medicine, and how artificial intelligence can help with therapeutic identification in precision medicine. They will also discuss and identify key barriers that may prevent patients from connecting with genetic counselors, as well as ways to overcome these barriers and keep the patients engaged.  

The keynote speaker is Melissa Haendel, Ph.D., the director of Translational Data Science at Oregon State University. Haendel will talk about using computable phenotyping for diagnostics and discovery.  

The symposium will take place at the Bradley Lecture Center, located on the 4th floor of the Children’s Harbor Building, 1600 Sixth Ave. South. To register, please visit the Rare Disease Day Symposium website.