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.
The reading room
The reviewed article library
Browse published, medically reviewed explanations. Search a gene, condition or research question, or narrow the collection by topic.
129 articles
Newborn genome screening: benefits, limits and follow-up
How genome-based newborn screening differs from routine screening and diagnosis, with practical examples, confirmation pathways and consent questions.
22q11.2 deletion syndrome: one genetic diagnosis, different health needs
A missing segment of chromosome 22 can affect several body systems. Understand testing, variable features, family implications and the role of lifelong assessment.
X-linked hypophosphatemia: connect phosphate loss with PHEX testing
A clinician’s guide to recognizing X-linked hypophosphatemia, interpreting phosphate handling and PHEX results, and separating established care from unresolved biology.
TTR T60A (Thr80Ala): what the variant name means
T60A and p.Thr80Ala describe the same TTR protein change using different numbering. Learn how to read the result and interpret the evidence.
How common is hereditary ATTR amyloidosis in the UK?
Learn why UK referral-cohort counts cannot establish national hereditary ATTR prevalence, and how to interpret the available evidence.
Inheritance patterns: understanding family probabilities
Dominant, recessive and X-linked inheritance describe how variants can pass through families, not how serious a condition will be.
Carrier screening: understanding results and planning your next step
Understand carrier-screening results, partner testing and remaining risk, with practical examples and questions for your genetics appointment.
Genetic counselling: a conversation, not just a test
Genetic counselling helps people understand information, uncertainty and choices in the context of their own priorities.
Building a family health history that helps your clinician
Specific diagnoses and ages are more useful than labels such as “it runs in the family.” Incomplete information still matters.
Which genetic test answers which question?
A gene panel, chromosome test and genome sequence are different tools. The best choice depends on the clinical question.
When a negative genetic test does not close the case
A negative result answers the question the test could ask. It does not always exclude a genetic explanation.