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The Gene Scene: TTR

  • Sarah Kreykes, MS, CGC
  • July 21, 2026

GENE SCENE SPOTLIGHT: This gene has been in the news (and many commercials) due to the impact that emerging treatments have had for some patients diagnosed with TTR Amyloidosis. Clinical Phenotype Summary:  The TTR gene encodes the transthyretin protein and is located on chromosome 18q12.1. Pathogenic variants in this …

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The Power of Progress: Philip's NF1 Clinical Trial Experience

  • Meagan Farmer
  • May 22, 2024

We had the opportunity to connect with Renie and Philip Moss ahead of Neurofibromatosis Awareness Month. Philip has neurofibromatosis type 1 (NF1). It is associated with many features but most often causes growths called neurofibromas (usually benign) as well as characteristic skin and eye findings.1 Malignant or cancerous tumors are rare.1 You …

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