Diagnostic medicine is where disease becomes something you can see. A tissue section, a culture plate, a variant call. I am drawn to that moment of evidence and to the responsibility of reading it correctly.

Diagnostic medicine

The diagnosis that every other specialty depends on

In the clinic I sent samples away and waited. Now I work on the other side of that wait. My postdoctoral research at Hokkaido University uses whole slide imaging and spatial biology to ask what the tissue around a cell says about its state, and whether a computational prediction survives contact with morphology.

I am equally drawn to the molecular and microbiological sides of the field. A pathogenic BRCA2 variant, a resistant Helicobacter pylori isolate, and a T cell dysfunction score on a slide are all the same kind of object to me: evidence a clinician can act on.

Whole slide tissue sections of small cell lung cancer with spatial T cell identity and dysfunction scores overlaid
Tissue first. Spatial T cell and dysfunction scores over H&E sections of small cell lung cancer. Underlying images from NCBI GEO dataset GSE263196.

Three kinds of evidence

Tissue, molecule, microbe

01

Anatomic and digital pathology

Whole slide imaging and spatial biology

I analyse whole slide images alongside spatial molecular measurements. The question is always whether a predicted cell state makes sense in the tissue around it. A model can propose. The slide decides.

whole slide imagingspatial transcriptomicstumour microenvironmentT cell states
View the tissue and model workflow
02

Molecular pathology

Variants that change management

I co-authored work on a pathogenic BRCA2 splice variant in metastatic prostate cancer and on the EHBP1 rs721048 variant in prostate and colorectal cancer in the Kazakh population. Both papers ask how a genomic finding should reach the patient.

BRCA2EHBP1hereditary cancerpopulation genetics
Read the BRCA2 case
03

Clinical microbiology

Culture, resistance, and surveillance

Our single centre culture based study of H. pylori in Kazakhstan, with a regional meta-analysis of prevalence and antibiotic resistance, links the laboratory bench to first line treatment choices in the clinic.

H. pyloriantimicrobial resistanceculturemeta-analysis
Read the 2026 study

Method

Computation in service of the slide

My PhD in genetics and my current work with Geneformer give me tools that most diagnostic teams do not have yet. I use them to generate hypotheses about cell states, then hold those hypotheses to the standard of tissue evidence. A prediction is not a diagnosis.

Immunopathology

Expression profiling in vasculitis

Longitudinal profiling of CD4+ and CD8+ cells in giant cell arteritis, from active disease to remission. My first exposure to reading immune cell states as a marker of tissue disease.

Read the study

In silico perturbation

Ask the model, then check the tissue

Geneformer predicts how deleting or overexpressing one gene shifts a T cell representation in small cell lung cancer. I check that each donor points the same way, then look for the same signal in the spatial data.

View the workflow

Key figures

Two papers, two ways of reading a signal

Clustered heatmap of the forty most variable transcripts in CD4 and CD8 T cells from patients with giant cell arteritis
Forty genes, 195 samplesExpression of the most variable transcripts in purified CD4+ and CD8+ T cells from 16 patients followed for a year after a biopsy-proven diagnosis of giant cell arteritis. De Smit et al., BMC Medical Genomics, 2018.
Grid of scatter plots showing transcript expression in CD4 T cells over twelve months with fitted polynomial curves
From active disease to remissionPolynomial fits of transcript expression from the acute phase to 12 months, with steroid dose as a covariate: the search for a blood marker that could stand in for a temporal artery biopsy. De Smit et al., 2018.
Axial brain slices with a colour overlay showing where strokes overlapped across eighty patients
Where 80 strokes overlapLesion frequency map built automatically from routine native CT scans taken in the acute stage, no MRI required. Muller et al., Current Topics in Medicinal Chemistry, 2020.
Brain renderings and axial slices highlighting regions where CT values differ between aphasic and non-aphasic patients
The signature of aphasiaVoxel-based quantification of CT values separates patients with and without language impairment, and the regions match known language areas. Muller et al., 2020.

Figures

From slide to model to microbe

Diagram of how ranked Geneformer gene inputs are deleted or overexpressed to estimate predicted cell state shifts
In silico perturbationRanked gene inputs are deleted or overexpressed, then the cell is read again to estimate a predicted shift. Workflow.
Geneformer embedding of lung cells organized by cell type and disease
Cell state embeddingLung cells organised by type and disease state in the Geneformer representation.
Helicobacter pylori antimicrobial resistance in Almaty, Kazakhstan, summarising resistance rates and genomic markers
From patient to plate to policy. H. pylori resistance profile from Almaty. Analysis repository · Paper.