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Record W4210671238 · doi:10.1080/13816810.2022.2025608

Lessons learned from research on choroideremia

2022· article· en· W4210671238 on OpenAlexafffund
Ian M. MacDonald

Bibliographic record

VenueOphthalmic Genetics · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicRetinal Development and Disorders
Canadian institutionsUniversity of Alberta
FundersCanadian Institutes of Health ResearchFoundation Fighting BlindnessChoroideremia Research Foundation
KeywordsChoroideremiaClinical trialMedicineHarmAlternative medicineGenetic enhancementFamily medicinePsychologyInternal medicineOphthalmologyPathologyGeneGenetics

Abstract

fetched live from OpenAlex

Having devoted over 35 years of my professional life to various projects on choroideremia (CHM), I began to reflect on the many lessons that I learned along the way. One of the most important is: we should pay careful attention to possible, unintended psychological harm in clinical research. This lesson was learned early and then reinforced when I engaged CHM patients in an investigator-sponsored Phase IB clinical trial of ocular gene therapy for choroideremia. My second lesson came from the trial itself in that preliminary data may not be sufficient to predict the risks to patients in a clinical trial. In the significant push to begin a gene therapy trial for CHM patients, writing grants, recruiting personnel, interacting with regulatory authorities, acquiring research equipment to test outcome measures, I missed a third lesson. There is significant bias when the principal investigator of an investigator-sponsored clinical trial is also the treating physician in the trial. Ideally, those two roles should be kept separate. Finally, having completed the clinical trial, I learned that gene replacement with an AAV vector may not be the only genetic therapy for CHM; an antisense oligonucleotide therapy may be possible in select cases.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.056
metaresearch head score (Gemma)0.080
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Review · Consensus signal: none
Teacher disagreement score0.056
Threshold uncertainty score0.298

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0560.080
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0030.001
Science and technology studies0.0020.013
Scholarly communication0.0070.014
Open science0.0030.004
Research integrity0.0090.024
Insufficient payload (model declined to judge)0.0060.002

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.166
GPT teacher head0.400
Teacher spread0.234 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations2
Published2022
Admission routes2
Has abstractyes

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