Welcome to a very special episode.
we’re delving into a subject that is practically unknown to most people: an ultra-rare disease called HNRNPH2.
With the help of advanced artificial intelligence tools like Notebook LM, we’ll explore this complex disorder, its impact, and the challenges faced by families who live with it every day.
Our journey will also highlight the incredible work of the Yellow Brick Project, a non-profit organization dedicated to supporting families, raising awareness, and advancing research on HNRNPH2. We’ll also be joined by Dr. Jennifer Bain from Columbia University, whose groundbreaking research is helping to shed light on the genetic underpinnings of this condition and paving the way for potential treatments.
Because if there’s one thing we’ve learned, it’s that technology and collaboration, when used ethically and compassionately, can be powerful tools for change and understanding what would otherwise remain in the shadows. So, buckle up, because this will be a unique and deeply human journey.
Citations:
[1] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7954461/
[2] https://yellowbrickroadproject.org
[3] https://pubmed.ncbi.nlm.nih.gov/27545675/
[4] https://link.springer.com/article/10.1007/s00439-021-02412-x
[5] https://yellowbrickroadproject.org/pages/hnrnph2-natural-history-study
[6] https://www.ncbi.nlm.nih.gov/books/NBK584018/
[7] https://www.neurology.org/doi/10.1212/NXG.0000000000000551
https://www.youtube.com/@yellowbrickroadproject2474

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