Section / Research
Genomics · epigenetics · systems
A record of the work
Publications, posters and dissertations across genomics, epigenetics and health systems — each marked with where it stands, from work in progress to presented and completed.
- In developmentMSc thesis · in progressLead researcher · COIN Unit, UCT (MRF-funded)
Long-read DNA methylation in genetically unresolved early-onset ALS in African patients
Investigating whether high-fidelity long-read sequencing can characterise DNA methylation patterns in South African patients with early-onset ALS whose cases remain unresolved after conventional genetic testing, and whether published epigenetic-age models transfer to African-ancestry long-read methylation data.
Why it matters · Unresolved diagnoses leave families without answers; methods calibrated elsewhere may not serve African patients without scrutiny.
- PresentedConference posterFirst author
When epigenetic clocks cross platforms and populations: a PacBio HiFi feasibility study
A feasibility study of published epigenetic-age models applied to African-ancestry methylomes on PacBio HiFi long-read data, presented at ESHG 2026 in Gothenburg, Sweden.
Why it matters · Age-prediction models are widely reused; this asks whether they hold when the platform and population change.
- CompletedHonours dissertation · First ClassResearcher (BMedSci Hons, Bioinformatics · GPA 85.83)
Analysis of indels to investigate genetic predictors of HPA-axis suppression in children on corticosteroid treatment
Investigated insertion/deletion variants as genetic predictors of hypothalamic-pituitary-adrenal axis suppression in children receiving corticosteroid treatment. Graduated with First Class Distinction as top academic achiever, supervised by Prof Nicola Mulder; funded by the NRF, FHS Deanery Office & UCT Council.
Why it matters · Understanding who is most vulnerable to steroid side-effects can make a common treatment safer.
- PublishedPublicationAuthor
Self-reported beta-lactam allergy: inpatients in government- and privately-funded hospitals in Cape Town, South Africa
A study of self-reported beta-lactam (penicillin-class) allergy among inpatients across government- and privately-funded hospitals in Cape Town — mislabelled allergies push clinicians toward broader, costlier antibiotics.
Why it matters · Unverified penicillin-allergy labels quietly worsen antibiotic stewardship and patient outcomes.
- PresentedCase study (Reach Alliance)Researcher
Access to maternal healthcare for women experiencing homelessness in Cape Town
Research with the Reach Alliance on access to maternal healthcare for unhoused women in Cape Town, conducted through the Haven Night Shelter network and presented at the Reach Alliance Conference in Monterrey, Mexico.
Why it matters · Access failures are often about reach, not the existence of a service.
Reach Alliance ↗
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