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Record W2109233770 · doi:10.2217/clp.12.42

The application of gene therapy in lipid disorders: where are we now?

2012· article· en· W2109233770 on OpenAlexaff
Joseph B. Dubé, Robert A. Hegele

Bibliographic record

VenueClinical Lipidology · 2012
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicNuclear Structure and Function
Canadian institutionsWestern University
Fundersnot available
KeywordsDyslipidemiaGenetic enhancementFamilial hypercholesterolemiaLipid metabolismDiseaseMedicineBioinformaticsGeneBiologyGeneticsInternal medicineCholesterol

Abstract

fetched live from OpenAlex

Lipid disorders or dyslipidemias result from perturbations within the biochemical pathways that regulate lipid metabolism. The dramatically altered lipid profiles that sometimes result from defects in these pathways can greatly enhance the risk of cardiovascular disease or other complications, with an attendant negative impact on morbidity and mortality. Patients with rare monogenic forms of dyslipidemia often live highly restrictive lifestyles, and options among existing pharmaceutical treatments are limited. Gene therapy provides a potential treatment option for monogenic dyslipidemias and perhaps even a long-term stable cure. In this article, we review the gene therapies applied to two types of monogenic dyslipidemias: homozygous familial hypercholesterolemia and familial LPL deficiency. We discuss the limitations of this approach, consider some future directions of gene therapy for monogenic dyslipidemias and possibilities for polygenic dyslipidemias.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.820
Threshold uncertainty score0.235

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.028
GPT teacher head0.329
Teacher spread0.301 · 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 teacher head, not a consensus.

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

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

Citations3
Published2012
Admission routes1
Has abstractyes

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