RARE DISEASE AND HNRNPH2
Frequently Asked Questions
WHAT IS A RARE DISEASE?
A disease is considered a rare disease when it affects fewer than 200,000 Americans at any given time or fewer than 1:2,000 people in Europe.
HOW MANY RARE DISEASES ARE THERE?
There are estimated to be over 7,000 Rare Diseases out there. 72-80% of those diseases are genetic, and only 5% currently have cures.
HOW MANY PEOPLE ARE AFFECTED BY RARE DISEASES?
Rare diseases affect more people than AIDS and cancer combined. Over 300 Million people worldwide have a rare disease. About half of them are children.
1 in 10 people in the United States has a rare disease.
65% of rare diseases are associated with a reduced lifespan
3 out of 10 children with rare diseases will not live to see their 5th birthday, and rare diseases are responsible for ~35% of deaths within the first year of life.
SO WHAT IS HNRNPH2?
HNRNPH2 is part of the family of hnRNP genes. Heterogeneous nuclear ribonucleoproteins (hnRNPs) represent a large family of RNA-binding proteins (RBPs) that contribute to multiple aspects of nucleic acid metabolism including alternative splicing, mRNA stabilization, and transcriptional and translational regulation.
In Layman’s Terms, this gene is responsible for telling our body what proteins to make so we can grow and develop.
When this gene is mutated, it has devastating affects on growing children, particularly on their neurological development. In Rose's case:
Her motor skills are impaired and she especially has trouble climbing stairs.
She lost her ability to talk at a young age.
She’s sensitive to sounds and surroundings, and will often scream in pain.
She’s often confused, and has difficulties connecting with people.
Everything that comes easy to us is challenging for her. Potty training, making friends, playing with others, communicating her needs and expressing herself are all things that are near impossible for Rosie.
HOW MANY CHILDREN HAVE AN HNRNPH2 MUTATION?
Since the discovery of this mutation in 2016, roughly 100 individuals have been identified to have this disease. However, recent estimates indicate that there may be closer to 10,000 children who currently suffer from HNRNPH2.
WHAT DOES ROSE'S TREATMENT AND OUTLOOK LOOK LIKE?
Rose’s current treatments involve therapy and cognitive exercises to help build neural connections and keep her engaged. She recently started using an iPad to help her communicate, and has made progress going up and down stairs.
Unfortunately, without a genetic treatment, therapy can only go so far, and she will continue to get worse. Children with HNRNPH2 often decline rapidly once they hit puberty - some have seizures and are catatonic. Some simply plateau. Some have passed away. Since this disease was only recently discovered, we don’t yet have good data about the long term prognosis for HNRNPH2.
Long story short, we are racing to develop a treatment for her before she hits puberty. That gives us the best chance at improving symptoms or even reversing some of this disease.
WHAT TREATMENTS ARE WE DEVELOPING AT TO CURE A ROSE FOUNDATION?
For our best chance at success, we are simultaneously working on two therapeutic tracks. Our main program is the development of an ASO treatment. ASO’s (antisense oligonucleotides) are what I refer to as “genetic duct tape.” An ASO designed for Rosie would target the specific part of the HNRNPH2 gene that is mutated, leaving behind just the healthy, un-mutated portion of the gene. This treatment has proven effective for similar diseases, and can help alleviate symptoms of genetic diseases.
Since Rose’s disease is monogenic (caused by one gene), it is a perfect candidate for this type of treatment.
Simultaneously to the ASO development,, our Drug Repurposing program will go through a library of thousands of existing small-molecule drugs, and see if any of them will help Rose, too.
Do you have any questions or want to learn more? Reach out to us, and schedule a meeting with Casey