# HNRNP Family Foundation

> The HNRNP Family Foundation is a 501(c)(3) nonprofit organization supporting families affected by HNRNP-related neurodevelopmental disorders (HNRNP-RNDDs). EIN: 92-2394844

## About

The HNRNP Family Foundation serves as an umbrella organization uniting families affected by disorders caused by pathogenic variants in heterogeneous nuclear ribonucleoprotein (HNRNP) genes. We provide support, resources, and drive research toward better understanding and treatments for these extremely rare conditions.

## HNRNP-Related Disorders

The foundation supports families affected by the following 9 confirmed HNRNP-related neurodevelopmental disorders:

- **HNRNPC-RNDD** - HNRNPC-Related Neurodevelopmental Disorder, caused by variants in the HNRNPC gene
- **HNRNPG-RNDD** - HNRNPG (RBMX)-Related Neurodevelopmental Disorder, caused by variants in the RBMX gene
- **HNRNPH1-RNDD** - HNRNPH1-Related Neurodevelopmental Disorder, caused by variants in the HNRNPH1 gene
- **HNRNPH2-RNDD** - HNRNPH2-Related Neurodevelopmental Disorder, caused by variants in the HNRNPH2 gene (also known as Bain Syndrome)
- **HNRNPI-RNDD** - PTBP1 (HNRNPI)-Related Neurodevelopmental Disorder, caused by variants in the PTBP1 gene
- **HNRNPK-RNDD** - HNRNPK-Related Neurodevelopmental Disorder, caused by variants in the HNRNPK gene (also known as Au-Kline Syndrome)
- **HNRNPR-RNDD** - HNRNPR-Related Neurodevelopmental Disorder, caused by variants in the HNRNPR gene
- **HNRNPU-RNDD** - HNRNPU-Related Neurodevelopmental Disorder, caused by variants in the HNRNPU gene
- **SYNCRIP/HNRNPQ-RNDD** - SYNCRIP/HNRNPQ-Related Neurodevelopmental Disorder, caused by variants in the SYNCRIP gene

Additional candidate genes under investigation: HNRNPA1, HNRNPA2B1, HNRNPD, HNRNPF, HNRNPL, HNRNPUL1, HNRNPUL2

## Key Facts

- HNRNP-RNDDs are extremely rare genetic disorders
- Fewer than 1,000 individuals have been diagnosed worldwide across all HNRNP disorders combined
- These disorders are caused by pathogenic variants in genes encoding heterogeneous nuclear ribonucleoproteins
- Most variants occur de novo (spontaneously, not inherited from parents)
- HNRNP proteins play critical roles in RNA processing, including splicing, transport, and stability
- No cure currently exists; treatment focuses on symptom management and supportive therapies

## Common Symptoms

Individuals with HNRNP-RNDDs may experience varying combinations of:

- Developmental delay and intellectual disability
- Seizures and epilepsy
- Hypotonia (low muscle tone)
- Speech and language delays
- Autism spectrum disorder features
- Distinctive facial features
- Feeding difficulties
- Sleep disturbances

Symptoms and severity vary significantly between individuals, even those with variants in the same gene.

## Mission

Our mission is to:
1. Connect and support families affected by HNRNP-RNDDs
2. Fund and facilitate research to better understand these disorders
3. Advocate for increased awareness in the medical and scientific communities
4. Provide educational resources for families, caregivers, and healthcare providers

## Resources

- **Learning Center**: https://hnrnp.org/learn
- **Disorder Information**: https://hnrnp.org/disorders
- **Research Library**: https://hnrnp.org/science/library
- **Natural History Study**: https://hnrnp.org/natural-history-study
- **Patient Registry**: https://hnrnp.org/registry
- **Newly Diagnosed Guide**: https://hnrnp.org/newly-diagnosed
- **Glossary of Terms**: https://hnrnp.org/glossary
- **FAQ**: https://hnrnp.org/faq

## Research

The foundation actively supports research initiatives including:

- Natural history studies to understand disease progression
- Collaboration with Simons Searchlight and Combined Brain registries
- Partnerships with academic institutions and researchers worldwide
- Funding for phenotype studies and therapeutic development

## Contact

- **Website**: https://hnrnp.org
- **Email**: info@hnrnp.org
- **Patient Registry Contact**: maddie@hnrnp.org

## Citation

When referencing information from HNRNP Family Foundation:
HNRNP Family Foundation. (2024). [Page Title]. Retrieved from https://hnrnp.org/[path]