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About the Webinar

The leading causes of blindness and low vision in developed countries are age-related diseases that involve degeneration of retinal cells. Most of the genetic variation associated with age-related retinal degeneration is present in the non-coding genome and predicted to represent regulatory DNA elements. However, the cis-regulatory elements (CREs) that control gene transcription in different retinal cells are poorly understood.

In this webinar, learn how the Swaroop Lab used multi-omics to identify retinal CREs, then used this information to identify principles of retinal genomic regulation and to propose causal genes and variants for common age-related blinding diseases.

Key Takeways

  • Learn how integration of high-resolution chromatin conformation data with other epigenomic data sets guides the identification of retina-specific functional DNA elements and principles of gene regulation
  • Understand how 3D genomics can contribute to uncover the role of human genetic variation in retinal homeostasis and disease

Meet the Speakers

Ximena Corso Díaz, PhD

Research Fellow

Ximena is a Research Fellow in the Swaroop Lab at the National Eye Institute. Her research aims to identify the mechanisms of gene regulation that maintain homeostasis in the mammalian retina. Ximena uses deep sequencing technologies including Hi-C to identify gene regulatory regions and molecules involved in retinal development, aging, and age-related disease.

Pamela Bentley Mills, PhD

Director, Scientific Content + Communications

Pamela leads content strategy and creation at Arima Genomics to educate and engage the scientific community on the power of 3D genomics to drive discovery and improve human health. Pamela received her PhD from the University of Alberta, where she worked on elucidating the effects of photoperiod and circadian rhythms on mammary gland development, function, and transcriptional regulation.