EVENT: Interpretation of Rare and Inherited Disease – June 22

The Intellectual and Developmental Disabilities Research Center, is pleased to organize this symposium featuring the landscape of genetics research at Washington University.

This half-day event includes presentations from a number of WU faculty experts in the field – including GPS Medical Director, Catherine Cottrell – and includes discussion around the challenges and opportunities in variant interpretation across multiple disciplines within the university.

There is no charge for this event, which includes a reception of refreshments and hors d’oeuvres. Please register for this event at http://iddrc.wustl.edu/genes to enable an accurate count for accommodations.


Interpretation of Genetic Variants in Rare and Inherited Disease

A Cross-Disciplinary Symposium on the State of Science, Technology, and Capacity at Washington University in St. Louis


Wednesday, June 22nd, 1:00 – 6:30 PM in Connor Auditorium (FLTC)

Featured Speakers

Marwan Shinawi: The Role of Clinician Input in Variant Interpretation

F. Sessions Cole: The Value of the Pediatrics Genomics Board and Inter-institutional Data Sharing

Don Conrad: Novel Bioinformatics Approaches to Variant Interpretation

Cathy Cottrell: The GPS Experience in Interpreting “n of 1” Variants in Clinical Disease Sequencing

Christina Gurnett: Scientific Tradeoffs between Clinical and Research Genomic Sequencing

Ira Hall: Putting Variants in Context: Large-scale Genome Sequencing Projects at WUSTL

Shondra Miller: Functional Genomic Validation of Disease-Associated Mutants

Josh Rubin: Disease-Specific Limitations and Cross-Disciplinary Opportunity in Variant Interpretation

Dustin Baldridge: Improving Inventories of Variants, Patients, and Biomaterials at WUSTL


1:00 Session 1

2:40 Break/Refreshments

2:50 Interactive Panel Discussion

3:10 Session 2

5:15 Reception (refreshments and hors d’oeuvres) in FLTC 2nd Floor Hearth

Please contact iddrc@kids.wustl.edu for more information.