The PMS DataHub: What Families Need to Know

What is the PMS DataHub? And why does participation matter?

In this episode of the Phelan-McDermid Syndrome Podcast, Dr. Lauren is joined by Kathy Fiscus, PMSF Data Manager and co-principal investigator of the PMS DataHub, to explain how this important resource supports both families and Phelan-McDermid syndrome research.

Kathy breaks down the difference between the current PMS DataHub and the legacy Phelan-McDermid Syndrome International Registry (PMSIR), explains how genetic reports are curated, and shares how researchers can use registry information to identify potential participants for studies.

Families also will learn about tools available within the DataHub, including de-identified survey results, document storage and sharing, medication and symptom tracking, and a personal journal. The conversation also explains why keeping health information current and uploading a genetic report can be valuable as new research opportunities emerge.

Dr. Lauren ends the episode reminding families of children aged 1-17 years to upload their genetic reports if they are interested in joining the next phase of the Observer-Reported Communication Ability (ORCA) study. ORCA will exclusively be recruiting families who have curated genetic reports in the PMS DataHub. Tune in to future episode to learn even more about what the ORCA team has accomplished so far and about their new study!

Learn more at pmsf.org/DataHub or contact DataHub@pmsf.org for assistance.

Needing additional help? You can schedule DataHub Help Desk with Kathy here!