Registration is now open for the Pediatric Sequencing Symposium on October 4th. Register here.

Agenda

Registration and Lunch 11:30-12:30
Welcome – Heather Mefford 12:30-12:45
Scientific Talks – Session 1 12:45-1:45
Enriched Phenotyping and WGS for Kawasaki Disease – Michael Portman, Seattle Children’s Hospital 12:45-1:00
Regulatory and other non-coding regions underlying visual disorders –  Timothy Cherry, Seattle Children’s Hospital 1:00-1:15
Characteristics of genes that underlie both recessive and dominant Mendelian conditions – Jessica Chong, University of Washington 1:15-1:30
Long Non-coding RNAs Associate with Outcome in Pediatric Acute Myeloid Leukemia – Jenny Smith, Fred Hutchinson Cancer Research Center 1:30-1:45
Coffee Break / Posters 1:45-2:15
Comparison of Trio-Sequencing Panels and Whole Exome Sequencing for Pediatric Patients – Kim Foss, Seattle Children’s Hospital
Fostering Equitable Care: Pediatric Genetic Counseling Challenges in Cases of Children in Foster Care – Emily Bonkowski, Seattle Children’s Hospital
Classification and exome sequencing of Developmental Brain Disorders (DBD): novel genes, phenotype expansions and remarkable genetic heterogeneit – Joshua Scheck, Seattle Childrens Research Institute
Scientific Talks – Session 2 2:15-3:30
Exome sequencing for infants with a prenatally identified fetal structural anomaly: Diagnostic yield and changes in management – Amanda S. Freed, University of Washington 2:15-2:30
Two is better than one: a pilot study demonstrating the utility of paired tumor-normal testing in pediatric patients with CNS tumors – Shannon Stasi,  Seattle Children’s Hospital 2:30-2:45
Feasibility study using cryopreservation media in the creation of rare brain tumor model systems – Sarah Leary, Seattle Children’s Hospital 2:45-3:00
Feasibility study of CSF cfDNA sequencing in our patient population – Bonnie Cole, Seattle Children’s Hospital 3:00-3:15
 Break 3:15-3:30
Scientific Talks – Session 3 3:30-4:30
Collaborative proposal to accelerate gene discovery in pediatric and adult epilepsy surgery – Ghayda Mirzaa, Seattle Children’s Research Institute 3:30-3:45
TBD- James Bennett Mosaicism/Vascular project 3:45-4:00
Collaborative Proposal to Develop a Clinical Assay to Detect Mosaicism using ddPCR- Candace Meyers, Seattle Cancer Research Center 4:00-4:15
Rapid exome sequencing impacts the management of critically-ill children at Seattle Children’s Hospital – Sarah V. Clowes Candadai, Seattle Children’s Hospital 4:15-4:30
Wrap up – Michael Bamshad 4:30-4:45