PGC Genomics Scientific Retreat Agenda

8:45 - 9:00 AM

Welcoming Remarks

Svati H. Shah, MD, MS, MHS
Director, Precision Genomics Collaboratory

Douglas Marchuk, PhD
Co-Director, Precision Genomics Collaboratory

9:00 - 10:00 AM  

Keynote Presentation

African Evolutionary Genomics: Reconstructing Human Evolution and the Genetic Basis of Complex Adaptive Traits

Sarah Tishkoff, PhD
David and Lyn Silfen University Professor in genetics and biology at the University of Pennsylvania

Moderated Short Talks

10 minute talks; 5 minute Q&A

10:00 - 10:15 -- Evon DeBose-Scarlett
"The Role of Somatic Mutation in Arteriovenous Malformation Development in Hereditary Hemorrhagic Telangiectasia"
10:15 - 10:30 -- Guinevere Connelly
"Elucidating Human Genetic Variants that Regulate Influenza A Virus Infection"

10:30 - 10:45

Break

10:45 AM – 12:00 PM

Moderated Short Talks

10 minute talks; 5 minute Q&A

10:45 - 11:00 -- Gopinath Viswanathan
"Decoding Neutrophil function and bacterial persistence during mycobacterial infection"
11:00 - 11:15 -- Asiya Gusa
"Transposon mobility in serial isolates of Cryptococcus recovered from patients with recurrent infections"
11:15 - 11:30 -- Tzu-Chieh (Jackie) Liao
"Single-cell Multi-omics Reveals Molecular Dynamics of ILC3 Plasticity during Intestinal Salmonella Typhimurium Infection"
11:30 - 11:45 -- Robin Perelli
"AX1BP3 loss is an autosomal recessive cause of arrhythmogenic cardiomyopathy and TRPV4-mediated arrhythmogenesis"
11:45 - 12:00 -- Dianne Cruz
"Exploring Spatially Resolved Transcriptomics in the Dorsolateral Prefrontal Cortex of
Individuals with PTSD"

12:00 – 1:00 PM

Lunch

Posters on display in Atrium

1:00 – 2:00 PM

Keynote Presentation

The All of Us Research Program: Shaping a National Scientific Agenda for Precision Medicine

Geoffrey Ginsburg, MD, PhD
Chief Medical and Scientific Officers for the All of Us research program.

2:00 – 3:45 PM

Moderated Short Talks

10 minute talks; 5 minute Q&A

2:00 - 2:15 -- Ekaterina Ilich
"Efficacious genome editing in a murine model of glycogen storage disease type Ia"
2:15 - 2:30 -- Kristin Corey
"Proteomic Profiling Identifies Metabolic and Extracellular Matrix Markers that Predict MACE in Individuals with Type 2 Diabetes"
2:30 - 2:45 -- Tania Guerrero Altamirano
"Genetic background matters for cis-regulatory activity (with a sprinkle of evolution)"
2:45 - 3:00 -- Seth Weaver
"Segmental Duplications Underlie Human-specific Gene Regulation"
3:00 - 3:15 -- Nick Giroux
"How selective are selective glucocorticoid receptor modulators"
3:15 - 3:30 -- Schuyler Melore
TBD
3:30 - 3:45 -- Sam Reisman
"Direct reprogramming of human astrocytes to neurons with CRISPR-based epigenome editing"

3:45 – 4:00 PM

Break

4:00 – 4:30 PM

Short Talks from Genetic Discovery of Rare Diseases Pilot Grant Awardees

4:00 - 4:15 -- Andrew Landstrom, MD, PhD
4:15 - 4:30 -- Derek Peters, MD, PhD

4:30 - 5:30 PM

Poster Session and Happy Hour in Atrium

Awards for best posters and oral presentation will be announced