Innovation across the Phenotypic Translational Divide Webinar - Part 1
Webinar
| Date | Day | Time (Pacific time) | Time (Eastern time) |
|---|---|---|---|
| April 09, 2020 | Thursday | 10am - 1pm PT | 1pm - 4pm ET |
Click here to join the meeting. No registration needed.
Background
As more Kids First genomic datasets become accessible to the research community, it is becoming more apparent that deeper, harmonized clinical and phenotypic data will be critical to empower genetic discovery and cross-dataset analyses, which will ultimately lead to improved diagnostics and therapies. Some grant mechanisms such as NOT-DE-19-016 and RFA-RM-19-012 can be used to support such activities, but standards are needed to ensure that additional data collection efforts will lead to stronger Kids First datasets in the Data Resource. Many Kids First X01 investigators have the ability to re-contact study participants to collect deeper phenotype data, or they need guidance and resources to extract data from existing medical records, surveys, or other documents. As we build an increasingly diverse community of researchers around Kids First, key players including developmental biologists and tool developers, working alongside the Data Resource Center (DRC) and X01 investigators, can inform additional phenotyping and data collection efforts.
Purpose
This event is co-planned by the Monarch Initiative and the Kids First Data Resource Center (DRC). Our goal is to improve phenotype data collection and harmonization of Kids First datasets (The Discovery of the Genetic Basis of Childhood Cancers and of Structural Birth Defects X01 cohorts) and generate a core/consensus set of clinical/phenotypic data elements that are extremely important for Kids First childhood cancer and structural birth defects datasets, and potential overlapping etiologies of these conditions. Another goal is to brainstorm ideas for developing tools and resources for collecting deeper (in some cases disease- or modality- specific) data that will be valuable for increasing understanding of individual pediatric conditions. Kids First X01 investigators, developmental biologists, ontologists, and tool developers will be brought together to inform this process.
Agenda
| Time (Pacific time) | Time (Eastern time) | Topic | Speaker |
|---|---|---|---|
| 10:00am | 1:00pm | Introductions | Valerie Cotton and Nicole Vasilevsky |
| 10:05am | 1:05pm | The importance of phenotype data depth, harmonization for “translational discovery”. | Melissa Haendel |
| 10:15am | 1:15pm | Use case - What can be done in the Kids First Portal with good phenotype data | Adam Resnick |
| 10:25am | 1:25pm | Pediatric Cardiac Genomics Consortium (PCGC) | Betsy Goldmuntz |
| 10:35am | 1:35pm | DS-Congenital Heart Disease | Joaquin Espinosa |
| 10:45am | 1:45pm | Neuropsychological Data Harmonization | Stephanie Sherman |
| 10:55am | 1:55pm | DS-ALL & Rhabdomyosarcoma | Philip Lupo |
| 11:05am | 2:05pm | Break | |
| 11:15am | 2:15pm | Enchondromatoses and Related Malignant Tumors | Nara Sobreira |
| 11:25am | 2:25pm | Orofacial Clefts | Mary Marazita |
| 11:35am | 2:35pm | Adolescent Idiopathic Scoliosis | Carole Wise |
| 11:45am | 2:45pm | Cornelia de Lange Syndrome | Sarah Raible |
| 11:55am | 2:55pm | Questions | |
| 12:05pm | 3:05pm | Break | |
| 12:15pm | 3:15pm | Summary of survey results | Deanne Taylor |
| 12:25pm | 3:25pm | DRC data harmonization process to the Kids First portal | Allison Heath |
| 12:35pm | 3:35pm | NIH Perspective | James Coulombe, NICHD |
| 12:40pm | 3:40pm | Brainstorming session and discussion | Led by Melissa Haendel |
Resources
Part 2 Webinar:
- Part 2 Webinar agenda is here
- Part 2 Webinar slides are here
- Part 2 Webinar recording is here
- Part 2 blog post is here