Does copy number become functional overdosage?
Three genomic copies do not automatically imply a therapeutically meaningful increase in every neural cell state.
Founder · Longinus Therapeutics
I am Marcio Diaz. My background is in software and machine cognition; I now lead Longinus Therapeutics, where we are exploring a narrow question in gene-dosage biology: whether partial reduction of CYFIP1 could be therapeutically useful in 15q11.2 BP1-BP2 microduplication.
Current work
The duplication adds a genomic copy; the working hypothesis is that part of the phenotype may follow from excess CYFIP1 dosage. The difficult part is determining whether that chain holds in relevant human cells—and whether it can be adjusted safely.
Three genomic copies do not automatically imply a therapeutically meaningful increase in every neural cell state.
CYFIP1 loss is also harmful. Any useful intervention must move toward a physiological range without overshooting it.
The lead modality is an intrathecal ASO approach, with partial knockdown, transcript selectivity and CYFIP2 preservation treated as design constraints.
Selected writing
Recent notes cover dose-response curves, ASO design, patient-derived neurons and genetic uncertainty. Earlier entries cover machine cognition and computational systems.
Why sequence-defined medicine feels structurally familiar to a software builder.
Dosage biologyThe therapeutic window sits between two biological cliffs.
Career transitionWhy sequence-defined medicine feels structurally familiar to a software builder.
Background
The questions moved from software to neural systems and then to molecular biology. The useful habits transferred; many of the intuitions did not.
Earlier work in software development and applied research.
Consciousness, interpretability and the architecture of internal representations.
Gene dosage, incomplete evidence and the limits of what a clinical report can establish.
Building a precision-medicine programme for 15q11.2 duplication.
Contact
Email is open to scientists, clinicians, families and biotech operators working on dosage-sensitive neurodevelopmental disease. Technical corrections are especially welcome.
[email protected]