Selected reading
How to Read Gene Therapy Trial Results: A Step-by-Step Guide
Read gene-therapy trial results step by step: outcomes, controls, absolute benefit, safety, small subgroups and long-term follow-up.
Medical genetics, explained through evidence
Understand genetic tests, explore inherited conditions and examine research—with traceable sources and recorded specialist review.
Genetic tests & interpretation
Read the result in its clinical context
ACMG/AMP variant classification: how to read a genetic test result
Read ACMG/AMP variant classifications with practical examples, Bayesian odds and points, gene-specific guidance, and safeguards against double-counting evidence.
Tumour vs germline testing: how to resolve discordant reports
Why tumour and germline reports can differ, when genetics input helps, and what information makes a useful referral. Includes practical examples.
What a genetic test can miss: understanding a negative result
Learn why a negative genetic test may leave questions open, with practical examples of test scope, mosaicism, repeat expansions and reanalysis.
Conditions & inherited risk
Disease guides for learning and clinical conversations
Hereditary hemochromatosis: HFE variants, ferritin and iron overload
Understand C282Y, H63D, ferritin and transferrin saturation, with practical examples of HFE results, iron overload and when further assessment helps.
Fabry disease: enzyme deficiency, inheritance and testing in women
Understand alpha-galactosidase A deficiency, GLA testing, Fabry disease in women and why normal enzyme activity may not exclude the diagnosis.
Hereditary ATTR amyloidosis: symptoms, diagnosis and TTR testing
Understand ATTRv versus ATTRwt and AL amyloidosis: symptoms, blood tests, bone scans, biopsy, TTR testing and family implications, with practical examples.
Research & emerging methods
Understand the method before interpreting the finding
Long-read sequencing after a negative genetic test: what can it add?
Understand when long-read sequencing may help after an inconclusive test, with examples of phase, repeat expansions and diagnostic-yield claims.
Personalised base editing: what an individual-patient result can show
Understand personalised base editing, the published CPS1 case, safety questions and how to judge evidence from one patient without overinterpreting it.
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Full article library →Source watch
Automatically selected external research links, balanced across subjects and publishers. These are not reviewed articles or editorial endorsements.
Novel ZNFX1 Variants Associated With Refractory Anemia and Interstitial Lung Disease. ↗
Bringing Untargeted Metabolomics to the Clinic: Real-World Data and Implementation for Screening of Inherited Metabolic Diseases. ↗
Factors Guiding Gastrostomy Tube Decision-Making for Caregivers of Children With Cystic Fibrosis: A Scoping Review. ↗
Hints for Advanced Genotype-Phenotype Correlation in a Cohort of Suspected Facioscapulohumeral Muscular Dystrophy Patients From Serbia. ↗
Education for students, families, clinicians and researchers.About the publication & medical editor →