Professors Roth and Taipale Receive $1.9 million for Joint-Study on Role of DNA Variation on Disease

MoGen faculty members Professors Mikko Taipale and Frederick Roth are heading a joint study alongside researchers at MIT and Harvard to study how DNA variation impacts coded protein function, and by extension, disease risk and severity The team plans to make an experimental data inventory to help classify missense variants (DNA alterations that change the amino acid coded for) as benign or pathogenic. Currently, the team has received $1.9 million from the Impact of Genomic Variation on Function Consortium to fund this research. Most missense variants’ health impacts are unknown and classified as variants of unknown significance, which is unhelpful for genetic testing patients. This team plans to solve unclassified variants and determine their role in disease or lack thereof by investigating the encoded protein variants from genes involved in hereditary disorders and how their function is affected on a cellular level. Prof. Roth co-founded the Atlas of Variant Effects Alliance, whose aim is to discover the function of all variants in human genes. The Roth team will create DNA clones to encode variant proteins, while the Taipale team will work out their localization and abundance within the cell.  

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