AI and Rare Diseases ── 2026-10-03
New papers on rare diseases (other than neurological and cancer) and AI, collected from journal feeds, PubMed (searched across all journals) and OpenAlex (a public index used instead of Google Scholar), judged by Jev (an AI that makes language judgements): original research, AI central, which of 8 disease groups, treatment or trials, and then ranked by importance up to a daily limit. Journals are not filtered by impact factor; each paper shows its journal's IF-equivalent (OpenAlex two-year mean citedness) and the date of that value. Each entry shows the full original abstract.
Read by disease: Platforms（1） · Inborn errors of metabolism（0） · Genetic syndromes（0） · Rare blood disorders（0） · Immune and connective tissue（0） · Heart and lung（0） · Kidney, liver and gut（0） · Skin and bone（0）
Rare-disease diagnosis and drug discovery platforms and AI
- Abstract
Background/purpose Interstitial lung disease (ILD) is an important factor determining the course of systemic sclerosis (SSc). Quantitative high-resolution computed tomography (HRCT) radiomics can aid in the detection of ILD, particularly when pulmonary function tests cannot be performed. The aim of this study is to develop machine learning (ML)-based models using only radiomic, only clinical, and radiomic + clinical combinations for the detection of ILD in SSc and to compare their performance. Materials and methods This retrospective, single-center study included 67 SSc patients (38 ILD positive, 29 ILD negative). A total of 852 radiomic features were extracted from HRCT using whole-lung segmentation, and after feature selection, the performance of logistic regression (LR) models was evaluated using fivefold cross-validation and out-of-fold (OOF) probabilities to calculate AUC, accuracy, and F1-score (radiomic-only, clinical-only, radiomic+clinical); thresholds were determined using the Youden index. Calibration and decision curve analysis (DCA) were performed, and binary AUC differences were tested using the De Long method.
Results: The radiomics-only model achieved an OOF AUC of 0.819, accuracy of 0.821, and F1-score of 0.838. The clinical-only model achieved an OOF AUC of 0.760, whereas the combined model achieved an OOF AUC of 0.825. The DeLong test showed no significant AUC differences between the models (all p > 0.05). Decision curve analysis demonstrated positive net benefit for all strategies at low to moderate threshold probabilities, with largely overlapping curves.
Conclusion: HRCT radiomic features demonstrated good discrimination for detecting ILD in SSc, achieving numerically higher performance compared with clinical variables alone; however, these differences were not statistically significant according to DeLong testing. Adding clinical variables to the radiomic model slightly increased sensitivity without a significant improvement in AUC. HRCT-based radiomics may serve as a useful imaging biomarker for ILD detection. Although pulmonary function data were unavailable in the present cohort, the observed results suggest that HRCT-derived radiomics may provide complementary diagnostic information.
Journal IF-equivalent: 1.2 (OpenAlex 2-year mean citedness, value as of 2026-10-02, retrieved 2026-10-03; not the official Clarivate IF)Reference: Say A, Doğru A, Çakmakçı Sözen M, Kayan M, Uğurlu Z, Gür Hatip F, et al. HRCT-based radiomic models for SSc-ILD detection: a comparison of radiomic-only, clinical-only, and combined approaches—an exploratory study. Egypt J Radiol Nucl Med. 2026 Oct 1;57(1):209. doi:10.1186/s43055-026-01858-1.Checked: Abstract only
Inborn errors of metabolism: treatment, trials and AI
No new qualifying paper for this issue.
Genetic syndromes and paediatric rare diseases: treatment, trials and AI
No new qualifying paper for this issue.
Rare blood disorders: treatment, trials and AI
No new qualifying paper for this issue.
Autoinflammatory, immunodeficiency and rare connective-tissue diseases: treatment, trials and AI
No new qualifying paper for this issue.
Rare cardiovascular and respiratory diseases: treatment, trials and AI
No new qualifying paper for this issue.
Rare kidney, liver and gastrointestinal diseases: treatment, trials and AI
No new qualifying paper for this issue.
Rare skin and bone diseases: treatment, trials and AI
No new qualifying paper for this issue.