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About the Webinar:

Genome-wide association studies (GWAS) have been incredible in identifying genetic signals linked to various traits and conditions. However, they often fall short in pinpointing the culprit genes responsible for these traits, particularly in noncoding regions.

In this webinar, learn how the Center for Spatial and Functional Genomics at the Children’s Hospital of Philadelphia (CHOP) has developed a dedicated infrastructure for variant-to-gene mapping using 3D genomics and other cutting-edge techniques. See how the team uses multi-omics approaches to uncover the functional context of GWAS variants in order to translate the findings into meaningful benefits for patient care.

Key Takeaways:

  • How 3D genomics complements GWAS by providing functional insights into cell-type-specific gene regulatory programs, enriching our understanding of type 2 diabetes pathogenesis
  • The power of variant-to-gene mapping using Hi-C technology and ATAC-seq, and how it identifies both causal variants and their effector genes at GWAS loci
  • Why implicated effector genes stand out as strong candidates for functional follow-up analyses in human cellular and animal models

Meet the Speakers:

Anthony Schmitt, PhD

SVP of Science, Arima Genomics

Dr. Anthony Schmitt is the Senior Vice President of Science at Arima Genomics. Under his leadership, Arima Genomics has launched multiple products enabling life science researchers to explore the 3D genome using a range of applications – from genome assembly to translational cancer research and beyond.

Prior to Arima, Dr. Schmitt received his PhD from the University of California, San Diego, where he developed novel methodologies to understand mechanisms of gene regulation using 3D genomics approaches. Dr. Schmitt is an accomplished scientist who has published his work in leading peer-reviewed scientific journals.

Struan Grant, PhD

Professor of Pediatrics, University of Pennsylvania School of Medicine

Dr. Struan Grant's career highlights include discovering the polymorphic Sp1 site in the COL1A1 gene and its association with osteoporosis, identifying variation in the TCF7L2 gene that plays a key role in type 2 diabetes risk, and leading an international genetics effort to characterize genes influencing birth weight and common childhood obesity risk.

As the Director of the Center for Spatial and Functional Genomics at the Children’s Hospital of Philadelphia (CHOP) and a Professor of Pediatrics at the Perlman School of Medicine at the University of Pennsylvania, Dr. Grant utilizes high-throughput genotyping, 3D genomic-based sequencing, statistical, and bioinformatic methods to investigate the genomic complexities of various common diseases, with a focus on pediatrics.