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  • 🧠 🧬 Researchers at CHOP discover a novel genetic disorder associated with neurodevelopmental differences " The as-yet unnamed disorder is the result of a series of rare variants in the MAP4K4 gene, which is involved in many signaling pathways, ...

  • Global Genes Impact Report 2022 This short report is a great way to see the impact Global Genes has made over the past year for the rare disease community. #impact #patientadvocacy Tons of impressive numbers like: 91% of Summit attendees ...

  • In terms of state government, Gina is proof that taking the initiative to not only pay attention to legislation in your area but to participate in democracy and also simply to do what we do best as advocates, speak up and become a squeaky wheel to raise ...

    1 person likes this.
  • Here's another one of the great stories from The NEXT Report by Global Genes. #researchcollabortations #researchReadiness #patientvoice Read the full report here. The efforts of Chion Foundation’s President and Founder Lara Pullen ...

    1 person likes this.
  • 🎙 To the best of our knowledge our own RareCast from Global Genes hosted by Danny Levine was the first podcast for rare diseases. RareCast debuted on Dec. 4, 2014 and has not missed a weekly episode since. Stronger Every Day by Bo Bigelow ...

    1 person likes this.
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