DonateJoin Registry

Supporting community and research towards rare HNRNP-RNDDs

Our foundation is a resource for patients and families that live with HNRNP as well as the scientific community that supports them.

Donate NowLearn About HNRNP
HNRNP community member

Resources for Families

Our primary mission is to empower and provide support and answers to patients and families impacted by HNRNP-RNDDs.

Family Resources

Resources for Science & Research

We work with the scientific community researching all HNRNP-RNDDs.

Research Resources
Father with child on shoulders
only1000documented cases
exist in the world
Microscope research equipment

What we do

Each HNRNP-RNDD is extremely rare, but together, there are over 1,000 documented cases known around the world. 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.

Explore Our Learning Center
It's great to see that this genetic research translates directly into being able to give patients and families the diagnosis that they have been waiting for. Receiving a diagnosis can allow patients and their families to access support networks and gain a greater understanding of their condition, which can have a huge impact on their lives, as well as understanding the risk for any future children they might have.
Dr Meena BalasubramanianConsultant Clinical Geneticist at Sheffield Children's NHS Foundation Trust
In recent years, spectacular advances in genomic analysis have ended the agonising diagnostic odyssey that so many children with developmental disorders and their families have endured. For many others though, a genetic diagnosis has remained elusive. This crucial research, through which reasons for some children's developmental disorders have been identified by analysing untranslated regions of the genome, brings hope and comfort to some families that their diagnostic odyssey too might come to an end, and could help more in the future. Receiving a genetic diagnosis offers families the possibility of information, support and finding others with a similar disorder, thus relieving their isolation and despair.
Dr Beverly SearleCEO at Unique – the Rare Chromosome & Gene Disorder Support Group

Fast Facts

The HNRNP-RNDDs are distinct disorders with overlapping clinical traits. These proteins work together within the cell to regulate gene expression. As they have similar mechanisms of disease, it is likely that there are shared therapeutic strategies to uncover.

Rare to Extremely Rare Disease

Individually, each HNRNP-RNDD is extremely rare but together they overcome their extremely rare status

Only 1000 diagnosed cases worldwide

Some HNRNP-RNDDs only have a handful of cases described, and the most for any single disorder is 400 cases described.

At least 9 HNRNP-RNDDs

To date, 9 HNRNP-RNDDs have been discovered though, that number continues to grow as we learn more.

Learn more about HNRNP
Happy family with children

How you can help

100% of our proceeds go directly towards supporting families and the research community.

ASO Screen for SYNCRIP Disorder
Research

ASO Screen for SYNCRIP Disorder

In partnership with Dr. Chaolin Zhuang's lab work beginning on Antisense Oligonucleotide (ASO) research for SYNCRIP (HNRNPQ). This type of therapy focuses on correcting how genes are read inside cells.

$0 raisedGoal: $20,000
Donate to This Campaign
HNRNP Drug Repurposing
Research

HNRNP Drug Repurposing

Through a funding collaboration with Better Future 4 U, a PhD student at Sheffield University is testing hundreds of safe compounds on HNRNP samples to identify potential treatments.

$0 raisedGoal: $45,000
Donate to This Campaign

Support Our Mission

Your general donation helps fund critical research, support families navigating a new diagnosis, and build a stronger community for everyone affected by HNRNP-related disorders.

Make a DonationAbout Our Foundation
HNRNP Conference
June 26–29, 2026

Join us at HNRNP 2026

Registrations are now open for this years conference in Sheffield, UK.

View Events