Collaboration
Collaboration Opportunities
Last scientific review: 2026-10-12.
The project seeks collaborators who can test the molecular questions below. No laboratory, funding source, material provider or institutional partner is represented as already committed. Supporting claims: C042scope
RNA splicing biology: test cryptic and annotated donor use in matched sequence backgrounds, confirm junction sequences, and distinguish the proposed 50-nt event from competing products. Supporting claims: C036proposed
Human-cell functional validation: compare intron-containing and intron-free designs with matched RNA and protein measurements to separate processing effects from an intrinsic missense effect. Supporting claims: C036proposedC039proposed
Transcriptomics: connect alternative junctions to transcript ends and quantify native and candidate RNA populations with isoform-aware controls. Supporting claims: C037proposedC038proposed
iPSC and retinal organoids: assess whether proposed effects occur in a relevant expression and developmental context, without assuming that a model expresses or reproduces every native isoform function. Supporting claims: C041proposed
Protein biochemistry: compare well-defined WT/G1526R constructs for maturation and folding-related behavior, and assess whether model-dependent local changes are experimentally reproducible. Supporting claims: C040proposed
Isoform-specific functional studies: test long and short transcript/protein architectures separately, including localization or turnover where interpretable. Targeted interaction assays should follow a supported interface or phenotype. Supporting claims: C020unresolvedC043proposed
A useful collaboration would specify the hypothesis being tested, the relevant expression context, matched controls, sequence-confirmation strategy, quantitative readouts and the limitations of positive or negative findings. Data generation and resource commitments remain proposals. Supporting claims: C036proposedC037proposedC038proposedC039proposedC040proposedC041proposedC042scope
This public case does not offer private familial or association-member datasets. No publication authorization for member records is implied. Supporting claims: C035scope
Contact names and a public contact channel have not been supplied. The implementation agent must obtain these from the project owner rather than inventing them.
Starting a conversation
Write to president@usher.org.tw with the hypothesis you could test, the expression context you work in and the readouts you could provide.