Sep 23, 2026 · 24 min · 11 segments
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…
Kathy FiscusGuest
The PMS Data Hub launched in late 2021. and is the only patient registry in the world dedicated specifically for individuals diagnosed with Phelan-McDermid syndrome.
To better understand a rare and diverse disease like Phelan-McDermid syndrome, researchers need to study which genetic alterations lead to which symptoms.
By participating in the Data Hub, families can provide the patient information needed to make progress with research.
Enrolling in the PMS Data Hub And uploading a genetic report, which is really easy to do, is the best way for us to track how many individuals are diagnosed with Fain-McDermid syndrome.
The registry also collects different things like general health data that covers all body systems.
We intend to add other surveys to collect more in-depth data on important health issues that impact our community, such as seizures and GI currently have 340 fully consented patients in the data hub.
Great.
Thank you for that rundown.
And, you know, 340 is a lot, but I actually know that that is not the full picture of all the data that we have for individuals with Phelan-McDermid syndrome.
So we previously hosted a different registry that was called the PMSIR.
So tell us what that is.
The PMSIR or the Phelan-McDermid Syndrome International Registry was the first version of the patient registry that launched in 2011 and closed to enrollment at the end of 2020.
The Data Hub has a shorter standardized general health survey that is easier for families to use.
And with the help of our amazing part-time genetic counselors, we are also able to curate the genetic reports through the Data Hub using another standardized form, which provides us with more accurate genetic data than the PMS-IR and can easily be used by researchers.
The PMS-IR data is still useful and valuable to researchers and is available to them by request.
This data is archived, so it will not appear on any Data Hub accounts, but families can request access to their PMSR data and any file uploads that they had done.
The PMS Data Hub launched in late 2021. and is the only patient registry in the world dedicated specifically for individuals diagnosed with Phelan-McDermid syndrome.
To better understand a rare and diverse disease like Phelan-McDermid syndrome, researchers need to study which genetic alterations lead to which symptoms.
By participating in the Data Hub, families can provide the patient information needed to make progress with research.
Enrolling in the PMS Data Hub And uploading a genetic report, which is really easy to do, is the best way for us to track how many individuals are diagnosed with Fain-McDermid syndrome.
The registry also collects different things like general health data that covers all body systems.
We intend to add other surveys to collect more in-depth data on important health issues that impact our community, such as seizures and GI currently have 340 fully consented patients in the data hub.
Great.
Thank you for that rundown.
And, you know, 340 is a lot, but I actually know that that is not the full picture of all the data that we have for individuals with Phelan-McDermid syndrome.
So we previously hosted a different registry that was called the PMSIR.
So tell us what that is.
The PMSIR or the Phelan-McDermid Syndrome International Registry was the first version of the patient registry that launched in 2011 and closed to enrollment at the end of 2020.
The Data Hub has a shorter standardized general health survey that is easier for families to use.
And with the help of our amazing part-time genetic counselors, we are also able to curate the genetic reports through the Data Hub using another standardized form, which provides us with more accurate genetic data than the PMS-IR and can easily be used by researchers.
The PMS-IR data is still useful and valuable to researchers and is available to them by request.
This data is archived, so it will not appear on any Data Hub accounts, but families can request access to their PMSR data and any file uploads that they had done.
The rest of this transcript — segmented and speaker-labeled, so you land on the exact moment something was said
Search every transcript — by keyword, by phrase, or by meaning, across every show Radar indexes
Trends — what is surging across podcasts, measured against its own baseline
Alerts — when a name you follow appears in a newly indexed episode
No account is needed to search Radar.