Innovation across the Phenotypic Translational Divide Workshop
These dates are tentatively scheduled and are subject to change due to travel restrictions due to the COVID-19 pandemic. We hope everyone is staying safe and healthy.
| Date | Day | Time |
|---|---|---|
| July 28, 2020 | Tuesday | 9am - 5pm ET |
| July 29, 2020 | Wednesday | 9am - 3pm ET |
Location:
Children’s Hospital of Pennsylvania (CHOP)
Roberts Center for Pediatric Research
2716 South Street, Philadelphia, PA 19146
Main room: 1120B
Breakout room: 1120A (Tuesday, July 28, 1:30-3:30pm)
Recommended hotel:
The Inn at Penn, 3600 Sansom St, Philadelphia, PA 19104.
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
The agenda is under development and will be finalized closer to the date.
Day 1
- Welcome and logistics - Nicole Vasilevsky and Valerie Cotton
- Overview of Kids First - Adam Resnick
- Perspectives on Phenotyping (Childhood Cancer and Structural Birth Defects Cohorts). What are the most informative translational questions? What is the value of collecting additional phenotype data?
- The Monarch Initiative and Ontologies 101 - Melissa Haendel
- Developmental Biology Perspective - Mustafa Khokha
- Epidemiological Perspective on phenotyping efforts relevant to childhood cancer and structural birth defects research and the overlap of these pediatric conditions in the population - Philip Lupo
- Analysis: Gaps in current Kids First datasets - Deanne Taylor
- X01 Investigator Lightning Rounds. In this session, the X01 investigators will describe their phenotyping efforts (e.g. data dictionaries, standards, methods used) and ideas for how they could be improved for both clinical utility as well as translational discovery.
- Pediatric Cardiac Genomics Consortium (PCGC) - Betsy Goldmuntz
- DS-Congenital Heart Disease - Joaquin Espinosa
- Neuropsychological Data Harmonization - Stephanie Sherman
- DS-ALL & Rhabdomyosarcoma - Philip Lupo
- Enchondromatoses and Related Malignant Tumors - Nara Sobreira
- Orofacial Clefts - Mary Marazita
- Laterality Birth Defects - Stephanie Ware
- Adolescent Idiopathic Scoliosis - Carole Wise
- Cornelia de Lange Syndrome - Sarah Raible
- Breakout 1: Phenotypes in harmony. During this breakout, we will have 4 groups focused on disease topics, and discussion questions will be provided for each group. Details here.
- Brainstorm day 2 breakouts.
Day 2
- Welcome and logistics - Nicole Vasilevsky and Valerie Cotton
- GAG4H and Phenopackets - Peter Robinson
- Genomics England/UK - Damian Smedley
- ANVIL and BD catalyst - Robert Carroll
- Harmonization of data elements and impact on clinical utility - Sam Volchenboum
- Overview of current DRC clin/phen ingest process & current challenges - Allison Heath and Deanne Taylor
- Breakout 2 (TBD)
- Group discussion:
- What are the next steps?
- How to continue to develop these standards?
- How to communicate the standards with other Kids First researchers?
- How to empower researchers to leverage existing standards, tools, and other resources to strengthen Kids First data for translational discovery?
- Funding opportunities to support clinical and phenotypic data collection, extraction, and harmonization, as well as “translational discovery” - Valerie Cotton and James Coulombe
- Wrap up the workshop - Melissa Haendel and Adam Resnick
The detailed schedule will be finalized closer to the date.