Current Studies
Explore our research projects and collaborative studies advancing understanding of HNRNP-Related Neurodevelopmental Disorders.
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!
HNRNP-RNDDs and iPSCs
In collaboration with Columbia University's Ricupero Lab and Stem Cell Core, this project encompasses research knowledge that aims to answer questions about induced pluripotent stem cells (iPSCs) in research and in connection with the HNRNP-RNDD community. The project explores how iPSCs can be used to model HNRNP disorders and develop potential therapeutic approaches.
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. This study expands our understanding of the clinical presentation of SYNCRIP-RNDD.
RNA-seq of Patient Derived Cells
This study analyzes RNA sequencing data from patient-derived cells to better understand the molecular mechanisms underlying HNRNP-Related Neurodevelopmental Disorders and identify potential therapeutic targets.
HNRNPUL2 Phenotype Study
A comprehensive phenotype study focused on individuals with HNRNPUL2-related conditions, aimed at expanding our clinical understanding and establishing genotype-phenotype correlations.
HNRNPD Phenotype Study
This study focuses on characterizing the clinical phenotype of individuals with HNRNPD variants to better understand the spectrum of features associated with this condition.
SYNCRIP ASO Study
An antisense oligonucleotide (ASO) study targeting SYNCRIP, exploring potential therapeutic approaches for SYNCRIP-Related Neurodevelopmental Disorder.
Iris Medicine sbRNA Study
A collaboration with Iris Medicine to investigate small bridging RNA (sbRNA) approaches as potential therapeutic strategies for HNRNP-Related Neurodevelopmental Disorders.
Have an idea for a study?
Think our data could help your research? Reach out to our Director of Research, Dr. Maddie Gillentine, to discuss potential collaborations.