Finding Power in Numbers
The HNRNP Family Foundation brings together multiple related rare neurodevelopmental disorders
Awareness and number affected are significant for rare diseases, as these are of major consideration for research and therapeutics development. The hnRNP proteins are molecularly interconnected, sharing functional roles and working together. Thus, therapeutic strategies may have overlap for these disorders. Grouping the HNRNP-RNDDs is not only beneficial for the community affected by these disorders, it also will have impact in the clinic. The HNRNP Family Foundation aims to take advantage of this power in numbers.
Specific HNRNP-RNDD pages coming soon!
What are the HNRNPs?
The HNRNPs are one large gene family.
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). The hnRNPs look similar and work together.
How are the HNRNP-Related Neurodevelop-mental Disorders connected?
The hnRNPs have similar structure and function, in addition to working together in the cell.
In 2021, Dr. Maddie Gillentine found that there is even more similar about them in the clinic! In additional shared molecular attributes, the individuals with variants (or mutations) in some of these genes also are similar! There is a shared clinical spectrum, with most individuals with an HNRNP-RNDD having developmental delay/intellectual disability, speech and language delays, behavioral differences such as autism spectrum disorder, ADHD, and anxiety, and mildly different facial features.
The hnRNP proteins that look more alike and function similarly also have more similar clinical presentations! There are a handful of features specific to certain HNRNP-RNDDs, but we know that they all fall onto one large spectrum.
Each HNRNP-RNDD is a rare disorder. Together, while still rare, we are able to have a larger community and learn from each other.
Helpful Resources
Unique
Unique is an organization who's mission is to inform, support and alleviate the isolation of any affected by a rare chromosome disorder, copy number variant, or single gene disorder associated with learning disability/developmental delay and to raise public awareness. As of now, they have resources for Au-Kline Syndrome (in English and Russian) and HNRNPU-Related Disorder (in English, Georgian, and Russian)