Our Research & Projects
HNRNP Family Foundation presents recently published and shared projects that focus on our community of HNRNP patients.
Many of these projects are made possible through collaborative efforts without partners and memberships.
We also recognize that projects do not come to fruition without the donations of time, patient samples, and fundraising campaigns, so thank you for your unwavering support!
HNRNP-RNDDs and iPSCs
In collaboration with Columbia University's Ricupero Lab, Stem Cell Core, and Bain Brain Lab, this project encompasses research knowledge that aims to answer questions about pluripotent stem cells (iPSCs) in research and in connect with the HNRNP-RNDD community.
The project is present in two formats: a presentation and video.
Access the HNRNP-RNDDs and iPSCs presentation here:
HNRNP-RNDDs Natural History Study
The HNRNP Family Foundation is working with researchers at the University of Calgary, Columbia University Medical Center, Sheffield University, and the Greater Baltimore Medical Center to conduct a natural history study for all the HNRNP-RNDDs. We will be using the Geneial platform for surveys and document uploads, which has mobile and desktop platforms.
If you have participated in Simons Searchlight we will be able to gather relevant data for their study and put it into Geneial, reducing survey burden. You will also be able to see results of the study in the application as more information is entered!
If you would like to be contacted to participate in the natural history study, please fill out this form:
If you do not have a CRID, please make one here: https://thecrid.org/
SYNCRIP/HNRNPQ-Related Neurodevelopmental Disorder Research
Several HNRNP-RNDD researchers, including our Director of Research Dr. Gillentine, come together to present this research paper focusing on the expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder.
HNRNPU-Related Neurodevelopmental Disorder Research
Several HNRNP-RNDD researchers, including our Director of Research Dr. Gillentine, come together to present this research paper focusing on the expansion of the phenotype in individuals with HNRNPU-Related Neurodevelopmental Disorder.