Dr. Eimear Kenny, a prominent professor at the Icahn School of Medicine at Mount Sinai, is a key contributor to the international Human Pangenome Reference Consortium, which aims to create a more inclusive human pangenome reference. This initiative currently includes genomes from 47 individuals, with plans to expand to 350 by 2024, enhancing the representation of human genetic diversity. The new reference aims to improve disease diagnosis and treatment, addressing health disparities by ensuring that genomic resources are reflective of global diversity.
Dr. Kenny’s work is rooted in her extensive background in genomics, which began over 20 years ago with the Human Genome Project. The pangenome reference acts as a comprehensive genome sequence collection, allowing for a more accurate comparison among individuals. This effort incorporates advancements in genomic technology, including long-read DNA sequencing, to enhance resolution and identify significant genetic variants.
With an emphasis on collaboration, community engagement, and population genetics, the consortium seeks to mitigate biases in genomics research and enhance applicability across diverse populations. Dr. Kenny’s leadership enables her to select genomes that optimize the benefits of this groundbreaking reference for a wide range of individuals worldwide.
