TrialLineage Concept
Molecular diagnosis
Molecular diagnosis identifies the specific genetic mutation responsible for a patient’s disease. In inherited retinal disease, this step is essential: it determines which gene is affected, whether a gene therapy exists for that mutation, and whether the patient is eligible for treatment. Without molecular diagnosis, gene therapy cannot be targeted.
In plain language
What is molecular diagnosis?
Traditional diagnosis identifies a disease by its symptoms: a patient loses vision, and clinicians classify the condition by pattern of loss. Molecular diagnosis goes deeper — it identifies the exact genetic change causing the disease, often through DNA sequencing.
Two patients with similar vision loss may have mutations in entirely different genes, requiring different therapeutic approaches. Molecular diagnosis distinguishes between them and enables precision treatment.
Why molecular diagnosis matters
Gene therapies are gene-specific. A therapy designed for RPE65 mutations will not help a patient with an RPGR mutation. Molecular diagnosis is the gatekeeping step that determines eligibility, informs prognosis, and guides treatment decisions.
The falling cost of genetic sequencing has made molecular diagnosis increasingly accessible, transforming inherited retinal disease from a clinical diagnosis based on symptoms into a genetic diagnosis based on cause.
Connection to gene therapy
Every patient treated with voretigene neparvovec (Luxturna) first required confirmation of biallelic RPE65 mutations through molecular genetic testing. As more gene therapies enter development for other retinal genes, molecular diagnosis becomes the critical link between knowing a disease exists and knowing which treatment to offer.
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