HNRNP Family Foundation

The HNRNP Family Foundation is dedicated to improving the lives of patients and families around the world that live with rare HNRNP-Related Neurodevelopmental Disorders (HNRNP-RNDDs).

We work closely with dedicated scientists and the medical community to drive patient-centered research. We are committed to finding treatments and creating a neurodiverse affirming ​community through education and support.

The hnRNPs are as much of a community in the cell as we are at the HNRNP Family Foundation.

The HNRNPs are genes encoding for the heterogenous nuclear ribonucleoproteins (also called hnRNPs when referring to the proteins). The hnRNPs are a large family of ~30 RNA binding proteins. These proteins are incredibly important in the cell and contribute to many aspects of RNA processing of many genes.

This includes:

• • alternative splicing (deciding which version of a gene is expressed)
  • mRNA stabilization (making sure the expressed genes don’t get degraded)
  • regulation of transcription (deciding which genes get expressed where)
  • and regulation of transcription (helping decide which mRNAs are made into proteins)

We also know that the hnRNPs look similar on a molecular level. Additionally, the hnRNPs can work together and compensate for each other.

The importance of the HNRNP genes

hnRNPs have been of great interest in the medical world for a long time due to their involvement in cancers and neurodegenerative disorders, which is often through changes in expression of the hnRNPs themselves. In contrast, the HNRNP-RNDDs are caused by variants within the genes.

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RNA binding proteins in general have a significant role in neurodevelopment.

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