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Identification of noncoding pathogenic variants for rare disease


January 15, 2020
1 – 6 pm

University Club
3100 Tower Blvd
Durham, NC

Join us by registering
@ http://bit.ly/RARE115

This colloquium series is designed to build community and unite expertise around the genetic causes of rare mendelian disease, specifically identifying pathogenic noncoding mutations in rare diseases.

This session will explore fundamental questions, current approaches, and developing methods at the intersection of clinical, experimental, and quantitative perspectives. The first half of the day will include an overview of genomics at Duke and current efforts in the noncoding space. The second half will include phenotype-specific presentations in the context of identifying regulatory causes. The day will end with a facilitated discussion to explore critical questions on the long-term goals and outcomes of these scientific questions.

The cross discipline agenda aims to optimize opportunities for scientific achievement in the area of rare diseases and gene regulation.


1:00 pm           Arrival & Introduction

1:15 pm           Precision Genomics Collaboratory

      • Svati Shah, MD

1:45 pm            Current efforts

      • Tim Reddy, PhD; Greg Crawford, PhD

2:00 pm           Exploring patient cohorts

      • Svati Shah, MD (Cardiovascular Genetics Clinic)
      • Andrew Landstrom, MD, PhD (Pediatric Sudden & Unexplained Cardiovascular Death Clinic)

2:30 pm           Break

2:45 pm           Exploring patient cohorts

      •  Vandana Shashi, MD & Andrew Allen, PhD (Undiagnosed Diseases Network)
      • Priya Kishnani, MD, MBBS (IVS1)
      • Scott Palmer, MD & Jamie Todd, MD (Rare Pulmonary Disease)

3:45 pm            Facilitated Discussion: Future Directions

4:45 pm            Closing

5:00 pm            Social hour: Vittles, Vinos, & Variants

Join us by registering
@ http://bit.ly/RARE115

Sponsored by:
School of Medicine Interdisciplinary Colloquia Initiative