Innovation across the Phenotypic Translational Divide Webinar - Part 3
Cross Species Phenotyping
| Date | Day | Time (Pacific time) | Time (Eastern time) |
|---|---|---|---|
| January 27, 2021 | Wednesday | 8-11am | 11am-2pm |
Introduction:
The Gabriella Miller Kids First Pediatric Research Program (Kids First) has built a cloud-based data resource for sharing and analyzing genomic and associated clinical and phenotypic data from a variety of childhood cancer and/or structural birth defects cohorts. A critical next step to uncovering the etiologies and shared pathways underlying these conditions relies on functional validation using model systems and related tools and databases. Together with the Monarch Initiative, this webinar aims to foster new collaborations among a rapidly expanding community of development biologists, clinicians, tools developers, and data scientists seeking to accelerate pediatric research. Attendees will help identify new opportunities for building connections across resources to promote cross-species discovery with the ultimate goal of improving preventative measures, diagnostics, and therapeutics for children and families impacted by childhood cancer and structural birth defects.
Agenda
| Topic | Speaker | Duration |
|---|---|---|
| Introduction to the value of cross-species research | Melissa Haendel | 10 min |
| Use Cases: How structural birth defects and childhood cancer researchers use model systems to inform genetic discovery | ||
| Cardiovascular diseases | Matt Wheeler | 10 min |
| Congenital Diaphragmatic Hernia | Wendy Chung | 10 min |
| Cranial dysinnervation disorders | Elizabeth Engle | 10 min |
| PDX neuroblastoma mouse models | John Maris | 10 min |
| Break | 5 min | |
| Keynote: Diagnostic successes in Genomics England | Damian Smedley | 10 min |
| Panel: Model Organism Databases | Chaired by Damian Smedley | 35 min |
| KOMP2/IMPC - Mouse models | Pilar Cacheiro | |
| Integrated Canine Data Commons - Canine models | Todd Pihl | |
| Xenbase - Frog models | Mardi Nenni | |
| ZFIN - Zebrafish models | Yvonne Bradford | |
| Integrating cross-species resources in a Common Fund Data Ecosystem to inform Kids First genetic discovery | Deanne Taylor | 10 min |
| Panel: Cross-phenotyping tools and resources | Chaired by Deanne Taylor | 30 min |
| uPheno and patternizing for organismal interoperability | Nico Matentzoglu | |
| The Monarch knowledge graph and Biolink API for querying and analytics | Justin Reese, Kent Shefchek and Deepak Unni | |
| Break | 5 min | |
| Brainstorm: How existing model organism databases and tools can interact with the Kids First Data Resource to inform variant validation | 25 min | |
| Closing remarks | Nicole Vasilevsky | 5 min |
Resources
Part 3 Meeting slides + Brainstorming
- Introduction and Logistics slides
- The Value of Cross-Species Research by Melissa Haendel
- Genetics of Congenital Diaphragmatic Hernia (CDH) in Mouse and Man by Wendy Chung
- Using Model Systems to inform genetic discovery: Cardiovascular Diseases: by Matthew Wheeler
- PDX neuroblastoma mouse models: by John Maris
- Diagnostic successes in the 100,000 Genomes Project: by Damian Smedley
- Brainstorming session
Part 3 Recording
Available here
Pre-meeting Resources
Since time for presentations is limited, we encourage you to learn more about some of the databases, resources, and projects that you will hear more about during the webinar, in advance of the meeting.
Pre-meeting Recommended Talks
- Wendy Chung’s Kids First project (webinar presentation)
- Sharon Diskin and John Maris’s Kids First project (webinar presentation)
Resources
- Kids First Data Resource Portal
- KOMP2/IMPC
- Elizabeth Engle’s KOMP2 project
- Xenbase
- ZFIN
- Integrated Canine Data Commons
- Monarch Initiative
Part 1 Webinar:
- Part 1 Webinar agenda is here
- Part 1 Webinar slides are here
- Part 1 Webinar recording is here
- Blog post is here