Clinical Leader: Genome Sequencing Research for Rare Diseases & The Future of the Field
By Clinical Leader
Tomi Pastinen, M.D., Ph.D., is the director of the Genomic Medicine Center (GMC) at Children’s Mercy Research Institute (CMRI).
In 2019, Dr. Pastinen, along with a team of CMRI researchers, launched Genomic Answers for Kids (GA4K), a first-of-its-kind pediatric data repository with the goal of collecting genomic data and health information from 30,000 children and their families over the next seven years to create a database of 100,000 genomes.
Today, more than 3,700 families with rare disease and more than 7,000 individuals have enrolled in the GA4K program, which has resulted in more 18,000 new genomic analyses and more than 600 genetic diagnoses and has already contributed to the reporting of 13 new disease genes.
Since the start of his career in 1994, Dr. Pastinen has published 169 peer-reviewed scientific papers on human genomics and genetic disease research.
Read the full Q&A with Dr. Pastinen via Clinical Leader
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