Overview
- Researchers led by Verónica Baez reported encouraging results in animal models and, as of Tuesday, have moved into collecting blood from human volunteers to establish normal reference values.
- The test strategy targets synaptic proteins tied to NMDA receptors, which help neurons adapt and form memories and may show altered levels when brain circuits are disrupted.
- A key technical hurdle is that these synaptic proteins appear at much lower concentrations in blood than in brain tissue, so the team must confirm reliable detection and reproducibility in humans.
- If validated, the blood-based markers could offer a lower-cost alternative to genomic sequencing and help more families gain an etiological diagnosis earlier, improving treatment choices.
- Next steps include comparing reference values with samples from children with suspected neurodevelopmental disorders, expanding clinical cohorts, and standardizing the assay before any clinical use.