The HNRNP Family Foundation has partnered with Geneial to manage an umbrella registry for ten HNRNP-Related Neurodevelopmental Disorders (HNRNP-RNDDs). This collaboration will allow the collection, curation, and analysis of complex data across multiple genes, research sites, and data sources, while addressing the unique needs of families and scientists engaged in the effort.
Empowering Families through Clear, Flexible Surveys
For Leila Margolis, founder of the HNRNP Family Foundation and mother to Sidney, who has a rare variant in the HNRNPQ/SYNCRIP gene, ensuring that patient-reported outcome (PRO) surveys are clear and accessible is a priority. Over the years, Leila has filled out countless surveys for Sidney and helped other HNRNP-RNDD families navigate the process, often encountering confusing or unclear questions.
“When you’re filling out these surveys, it’s easy to interpret questions differently, and you often wonder what the researchers are really asking for. Geneial has a better user experience,” Leila explains. “They’ve worked with us and our research team to tailor survey questions, adding clarifying information in the app, making the surveys far more understandable.”
This flexibility will significantly impact the families participating in the registry. Leila notes that Geneial’s user-friendly mobile app allows parents to complete surveys in manageable chunks, making the entire process less overwhelming and more likely to yield accurate, meaningful data.
“I love that I can complete a survey while waiting for Sidney at OT or PT, instead of having to set aside a big block of time. It’s less daunting, and I think it will help more families stay engaged with periodic surveys over the long term,” she adds.
Maintaining Control and Flexibility for Researchers
Dr. Billie Au, MD, PhD, from the University of Calgary and a member of the HNRNP Family Foundation Scientific and Medical Advisory Board, has maintained an HNRNPK registry for many years. Dr. Au expressed concerns about moving their data to a new platform, fearing it could limit their flexibility in accessing and controlling the data. “I was worried that we might lose the ability to work with our data as we need if it was locked into a new system,” she shared.
“The fact that their platform can read and write to REDCap was crucial for us, and the user-friendly interface has made it easier for us to manage our registry data.”
Dr. Au also highlighted Geneial’s ability to consolidate historical data from various sources, including her REDCap registry and Excel files. “Geneial has been helpful in our process of establishing a comprehensive data dictionary and bringing together data from multiple sources,” adds Dr. Au. “They are highly competent data curation partners with the expertise to standardize and transform registry data to streamline downstream analysis and publication, while also assisting us with practical user experience factors like making sure surveys are accessible for participants and creating an experience to help them avoid survey fatigue.”
A Collaborative Platform for Scientists
Dr. Maddie Gillentine, the Research Director at the HNRNP Family Foundation, helped found the foundation after identifying connections between HNRNP-RNDDs during her postdoctoral work. She is deeply familiar with the challenges of analyzing genomic data across diverse disorders. Maddie is particularly excited about how the platform can streamline analysis of registry data across the ten genes, making it easier to identify commonalities and trends.
“Geneial Bridge and its Cohorts feature will allow us to individually or jointly analyze various combinations of the ten different HNRNP-RNDDs. Integrated mapping to HPO [Human Phenotype Ontology] terms, variant annotations and variant map visualizations make interpreting the data so much more efficient. We’re not just bringing registry platform data together—we’re also speeding up the research process itself,” she explains.
But for Dr. Gillentine, Geneial has been more than a vendor providing a software platform and analytics tools—they are a collaborative partner in the research process. Geneial’s team supported her and her colleagues in writing grant applications, providing both scientific expertise and practical guidance.
“Geneial worked closely with us to apply for the funding we needed, demonstrating their deep commitment to our success beyond simply providing a service,” she adds.
A New Era for the HNRNP Family Foundation’s Registry
With Geneial’s flexible, collaborative platform, the HNRNP Family Foundation is prepared to integrate existing data, streamline ongoing surveys, and support longitudinal studies—all while maintaining complete control over their data. With the help of Geneial’s bioinformatic experts, the foundation is well-positioned to uncover new insights into this family of rare genetic conditions.