We will be traveling from New Jersey to Colorado to Florida and back to New Jersey. The approximate distance will be 4444 miles. Our goal is to document our daily travel in Miles and Adventure. You can be a part of this by checking in to see how far we have traveled and what exciting places and events we have encountered along our journey.
Here's the FUNdraising part. Every Penny counts. I am asking for just a donation of 4000 Penny's or $40.00 to our nonprofit Better Future 4 U. Our Non profit helps Dr Meena from Sheffield Children's Hospital in England continue the research. Mary's cells are a pinnacle part of her research to help Mary and the 350 others in the world who have been diagnosed with this very rare, non-inherited gene.
HNRNPU is a gene located on chromosome 1q44 that encodes a protein called heterogeneous nuclear ribonucleoprotein U. This protein belongs to a family of HNRNPs—key players in the processing of DNA and RNA. HNRNPU, in particular, is involved in critical functions like alternative splicing, where RNA is trimmed and rearranged before being translated into proteins.
HNRNPU is expressed in many parts of the body, including the brain. Mutations in this gene can lead to significant medical challenges, most commonly neurodevelopmental delays and epilepsy. In nearly all cases, these mutations are de novo, meaning they occur spontaneously and are not inherited from either parent.
Better Future 4 U is a nonprofit organization dedicated to advancing understanding, awareness, and research around HNRNPU neurodevelopmental disorder. We work to fund cutting-edge research and collaborate with scientists to uncover treatments and, one day, a cure. Just as importantly, we build community—connecting families and caregivers navigating life with an HNRNPU diagnosis.