Good question! Here’s the short versionMS (caused by SHANK3 mutations) has traditionally only been diagnosed when there’s a large deletion on chromosome 22. But new data shows that a lot of cases involve SHANK3 sequence variants – which are massively underdiagnosed because many labs don’t test the gene properly (especially exons 1, 11, etc.).Here’s the kicker:SHANK3 mutations are found in ~1–2% of all autism cases.And the US has 5 million+ people with ASD.→ That suggests 50,000–100,000+ undiagnosed PMS cases in the US alone, compared to Neuren’s current 17k–32k estimate.So yeah – PMS could easily be 3–5x more common than what’s currently diagnosed.Same logic applies to Pitt-Hopkins (PTHS), just on a smaller scale.Source: Neuren’s own investor deck + recent ACMG data (2025).
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MS (caused by SHANK3 mutations) has traditionally only been diagnosed when there’s a large deletion on chromosome 22. But new data shows that a lot of cases involve SHANK3 sequence variants – which are massively underdiagnosed because many labs don’t test the gene properly (especially exons 1, 11, etc.).Here’s the kicker:SHANK3 mutations are found in ~1–2% of all autism cases.And the US has 5 million+ people with ASD.→ That suggests 50,000–100,000+ undiagnosed PMS cases in the US alone, compared to Neuren’s current 17k–32k estimate.So yeah – PMS could easily be 3–5x more common than what’s currently diagnosed.Same logic applies to Pitt-Hopkins (PTHS), just on a smaller scale.Source: Neuren’s own investor deck + recent ACMG data (2025).
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