DuoNovo: How Long-Read Sequencing Can Improve Access to Genetic Testing

Empowered Patients Start with Better Education

Leading the Shift to Proactive Care: The Christ Hospital’s High‑Risk Program Strategy
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DuoNovo: How Long-Read Sequencing Can Improve Access to Genetic Testing
  • Leandros Boukas, MD, PhD
  • May 13, 2026

Introduction:   Many of us are familiar with the classic conceptualization of genetic disorders as disorders that run in families, often illustrated in large, multi-generation pedigrees. However, the widespread application of sequencing technologies as a diagnostic tool for rare disorders has now rewritten the textbook. One of the ways it has …

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The Gene Scene: SDHB

  • May 12, 2026
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The Gene Scene: MYBPC3

  • May 5, 2026
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The Gene Scene: RYR1

  • April 28, 2026
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Empowered Patients Start with Better Education

  • April 27, 2026
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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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Navigating NF1: The Moss Family’s Story of Resilience and Hope

  • May 16, 2024
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Transforming Fear into Action and Advocacy: Our Family’s Lynch Syndrome Story

  • March 22, 2024
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Peace of Mind: Michelle Majewski Trusts the Patient for Life Program to Share Answers for Her Son Owen

  • November 14, 2023
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Passing on a Legacy of Health: Ben Huebsch Shares His BRCA Story for Men’s Health Week

  • June 14, 2023

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