A curated ILD variant registry
ILD Genomics pools de-identified, expert-curated evidence on genomic variants observed in interstitial lung disease, supporting more consistent variant classification across the clinical and research community.
Building shared evidence for a diagnostically hard disease
Genetic predisposition is a key driver in the pathogenesis of interstitial lung diseases (ILDs), with the incidence of pulmonary fibrosis (PF) being 100-fold higher in families where a member has a diagnosis of IPF and up to 30% of asymptomatic relatives of sporadic cases of IPF having interstitial lung abnormalities (ILAs) on chest CT. There is growing recognition of the clinical value of identifying inherited genetic factors, particularly rare genetic variants, with implications for personalised management and early diagnosis of high-risk patients …
Read full project description →From a single record to shared classification
Submission is kept straightforward, while every variant still passes through expert review.
Submit de-identified records
Contribute an anonymised patient record with its observed variant and phenotypic context. No identifying information required.
Expert curation
A curation panel reviews each variant's significance to ILD, weighing supporting evidence against established interpretation guidelines.
Shared classifications
Curated classifications and their underlying evidence become searchable to registered contributors, growing stronger with every submission.
For pulmonologists, clinical geneticists, and ILD researchers
If you diagnose, counsel, or study patients with interstitial lung disease, sign up to explore curated evidence and contribute your own de-identified cases.