Translating knowledge gained from alternative splicing as a molecular mechanism underlying disease gene regulation into precision medicine tools
Younghee Lee, PhD
Assistant Professor, University of Utah
Wednesday, May 4th
2:00 pm | BIO5 Rm 103
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Precision medicine aims to provide tailored guidelines for treatments based on the patient’s genomic makeup. We are steadily approaching this goal as it is becoming possible to obtain full DNA sequence information for each patient. In addition, the availability of epigenetic information, quantitative gene expression, and regulatory information makes it easier to choose the best treatment for a patient. The challenge is not only in linking together all these different types of data that are available for researchers, but also in translating these data into biological and clinical knowledge. In this talk, Dr. Lee will introduce alternative splicing as an opportunity and basis for new methods in precision medicine. Alternative splicing regulates gene expression and is a key cellular mechanism that generates diverse protein isoforms from a single gene. She will explain bioinformatics approaches that have integrated diverse “omics” data (e.g. genetic variation such as single nucleotide polymorphisms, non-genetic variation such as DNA methylation, and gene expression), to discover the systems-level properties of human disease with emphasis on alternative splicing. At the end of the presentation, she will discuss how the bioinformatics approach they have developed may shape molecular approaches to precision medicine.