YUSAN Centro de Apoyo Escolar y Desarrollo de Habilidades
Blvd. Quintero Arce esq. Retorno Vernaza #33 83288 Hermosillo, Sonora, Mexico

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Today is Pitt Hopkins Awareness Day. This is a bitter sweet day that all of us, families around the world who have a loved one diagnosed with Pitt Hopkins syndr...ome, "celebrate" once a year. In this post, I want to celebrate the mighty power of Pitt Hopkins parents bent on improving the lives of their children through the amazing research being sponsored, thanks to their fundraising efforts and the donations of so many of you, our friends and family. Take a minute to look at the headings below and get a glimpse of what's going on. Thank you. Today is Pitt Hopkins Awareness Day. The year 2020 has been a rough one on so many fronts. Covid-19 may have temporarily closed many of our labs and put our clinical trial on hold, but that doesn't mean we aren't still working hard to find treatments and, of course, a cure! Read about our exciting work: CLINICAL TRIAL After months of being on hold due to Covid-19, we are so excited to share that our first ever Pitt Hopkins clinical trial is moving forward once again! We are hopeful that treatment for patients will start by the end of this year. The primary goal of this study is to reduce the GI symptoms in which our kids are suffering daily. GENE THERAPY We have multiple labs working on this endeavor and are excited for what this may hold for the future of Pitt Hopkins. One potential therapeutic strategy for this is to use CRISPR activation technology to enhance the protein output (i.e., gene expression) from the 'normal' gene copy to compensate for the mutated one. One lab is currently using brain organoids to test gene therapy, we are very excited about this work. BRAIN ORGANOID MODEL The brain organoids (reprogrammed stem cells donated from several PTHS patients), are created and being tested for use in future studies. iPSCs are also being used in research. These two models may be helpful to determine if treatments will be effective in humans, and not just mice. RE-PURPOSING One of the quickest ways to bring medications to trial is to re-purpose already FDA approved meds. We have been working with a company who has done drug screening to find what may be the best fit to help the symptoms our children are dealing with. They are looking at seizures, breathing issues, GI complications, sleeping, and more. None of this would be possible without YOU, our supporters. Thank you for your continued support and joining us in the fight! We hope you will consider making a donation today, in honor of Pitt Hopkins awareness day, to help us continue moving this important research forward. Sincerely, The Pitt Hopkins Research Foundation Board of Directors

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