Evidence map›Paper›PMID 36750685›Full record

ReviewNature reviews. Rheumatology2023

A path towards personalized medicine for autoinflammatory and related diseases.

Jonathan J Miner, Katherine A Fitzgerald

Open access · bronzeAbstract readReview
In one paragraph

Review in Nature reviews. Rheumatology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
3.8field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 25 citations in OpenAlex.

  1. Review
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  11. Inflammation and resolution in obesity.Nature reviews. Endocrinology · 2025 · on this map
    Review
  12. Article
  13. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 2 institutions in 1 country.

Jonathan J MinerDepartments of Medicine and Microbiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Jonathan.Miner@PennMedicine.UPenn.edu.ORCID 0000-0001-9551-2962
Katherine A FitzgeraldProgram in Innate Immunity, Department of Medicine, University of Massachusetts Medical School, Worcester, MA, USA. kate.fitzgerald@umassmed.edu.ORCID 0000-0003-3175-609X
University of Massachusetts Chan Medical School · USUniversity of Pennsylvania · US

Funding

Mechanisms of STING-associated immunodeficiencyR01AI143982 · NIAID · WASHINGTON UNIVERSITY · PI Jonathan J Miner · 2019 to 2026
$4.6M
NIAID NIH HHS R01 AI143982
6 · The paper itself

Abstract

The human genome project led to the advancement of genetic technologies and genomic medicine for a variety of human diseases, including monogenic autoimmune and autoinflammatory diseases. As a result, the genome of an individual can now be rapidly sequenced at a low cost, and this technology is beginning to change the practice of rheumatology. In this Perspective, we describe how new sequencing technologies combined with careful clinical phenotyping have led to the discovery of rare rheumatic diseases and their corresponding disease-causing mutations. Additionally, we explore ways in which single-gene mutations, including somatic mutations, are creating opportunities to develop personalized medicines. To illustrate this idea, we focus on diseases affecting the TREX1-cGAS-STING pathway, which is associated with monogenic autoinflammatory diseases and vasculopathies. For many of the affected patients and families, there is an urgent, unmet need for the development of personalized therapies. New innovations related to small molecular inhibitors and gene therapies have the potential to benefit these families, and might help drive further innovations that could prove useful for patients with more common forms of autoimmunity and autoinflammation.

Indexed as

Autoimmune DiseasesHereditary Autoinflammatory DiseasesAutoimmunityHumansInflammationPrecision Medicine

Identifiers

PMID36750685
PMCPMC9904876
OpenAlexW4319335940

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.