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Pioneering New Research to Support Rare Disease Patients and Families

  • Elizabeth Chao, MD, FACMG
  • October 10, 2024

Unlocking the mysteries of the genome is our life’s work. Since the launch of our first clinical genomic test for identifying the genetic cause of rare diseases, we’ve sought ways to leverage our technology and expertise to support clinicians and the patients and families they serve.   As genomic technologies improve, we gain new tools that …

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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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