How Can Diverse Genomic Approaches Improve Rare Disease Research?
Tomi Pastinen, MD, PhD
Multiomic techniques can robustly screen and identify often-missed genetic determinants of rare diseases
Tomi Pastinen, MD, PhD
Tomi Pastinen, MD, PhD, has been the director of the Genomic Medicine Center (GMC) at Children’s Mercy Kansas City since 2017. Pastinen joined Children's Mercy from McGill University. He held the Canada Research Chair from 2007 to 2017 and has a significant track record of academic achievement. He has authored over 200 peer-reviewed publications, including papers in top-tier journals, Cell and Nature Genetics. Prior to joining Children’s Mercy, Pastinen led the epigenome mapping center at McGill as part of the International Human Epigenome Consortium. Since 2019, Pastinen has been leading Genomic Answers for Kids, a foundational initiative for future genomic research at Children’s Mercy Research Institute that aims to develop better tools to learn from 30,000 children with rare genetic conditions and disseminate this data resource to accelerate rare disease research globally.