[작성자:] Ashley Zhu

Behind every ambiguous genetic variant, negative diagnostic test, and unresolved case is a patient and family waiting for answers. For clinicians, finding those answers can mean navigating increasingly complex genomic testing options, interpreting uncertain variants, and keeping up with a rapidly evolving field — all while managing the demands of everyday clinical practice. So instead…

If you’ve spent any time in rare disease diagnostics, you know the drill: the phenotype points one way, the first test comes back negative, and now you’re stuck asking questions instead of answers. Was the gene even covered well enough? Is that variant sitting in VUS purgatory because nobody’s revisited it? Or is the answer…

Rare Disease Day is a moment to recognize the people behind every diagnosis — patients, families, clinicians, and teams who continue searching for answers even when cases are complex. This year, healthcare professionals and partners from around the world shared short messages of encouragement for the rare disease community. Each message reflects compassion, resilience, and…

1. The Unanswered Questions in High-Risk Reproductive Cases Recurrent pregnancy loss, stillbirth, early infant loss, and other unexplained reproductive outcomes remain some of the most challenging situations in reproductive medicine. Even with advances in genetic testing, many families never receive a clear explanation for why a pregnancy failed or why a child was lost. Results…

Why family studies matter after Exome or Genome sequencing 1. From “a variant” to “a diagnosis” Exome and genome sequencing can identify thousands of genetic variants in a single test. However, once results are returned, clinicians and families often face the same fundamental question: “Is this variant truly responsible for my child’s symptoms?” Answering this…