8 parts · 33 modules
Learning centre
A guide to STAG2 duplication syndrome and related cohesinopathies, built from first principles. No biology background needed — every technical term is explained where it first appears.
Written for families facing a new diagnosis, clinicians meeting their first case, and researchers considering the field. As far as we can establish, no comparable public resource exists for this condition.
- 01 Foundations DNA, genes, proteins — the central dogma · Chromosomes, X and Y, and why boys are affected · What a duplication is, and how it is found · Gene dosage — the single most important concept
- 02 The condition STAG2 and the cohesin complex · Loop extrusion — how cohesin controls which genes turn on · Why extra STAG2 harms neurons — the evidence in humans · Two opposite diseases from one gene · The cohesinopathies — the disease family
- 03 Reading the evidence How to read a scientific paper · Study types and the evidence hierarchy · Reversibility, and the MECP2 duplication precedent · The databases you should know how to use
- 04 The laboratory Cell models — why skin becomes neurons · Reprogramming and differentiation — how it actually works · Controls — the isogenic question · Readouts — how you measure a difference · Drug screening and hit triage
- 05 Therapeutics The modality zoo — every way to lower a gene · Getting a medicine into the brain · Safety — the constraints that shape everything
- 06 From lab to child The translation pipeline · N-of-1, compassionate use, and bespoke medicines · Why regulators accept low-n evidence in rare disease · Outcome measures, biomarkers, and why baseline matters now
- 07 For families Running a family research program · How to email a scientist · The questions that separate rigor from sloppiness · Funding · Ethics, consent, data, and IP
- 08 Reference Glossary · Reference library · Further learning