Researchers discover a new type of bone cell and name it after the Power Rangers
Go, go, osteomorphs!
Tag: Genetics
Direct-to-consumer genetic tests ‘extremely unreliable’ for rare variants
Commonly used tests are likely to throw up false positives and results need to be validated, researchers warn.
Is diastolic BP a modifiable risk factor for hypertrophic cardiomyopathy?
The condition is often polygenic with many common gene variants contributing risk, researchers find.
A GP guide to congenital hand and foot conditions
Knowing how to manage and when to refer these cases will ensure the best developmental and functional outcomes for the child.
Genetic tests reveal the cause of a patient’s alarming symptoms
A life-threatening presentation in a patient in his 30s prompts genetic screening for the potential cause.
Why identical twins may not be so identical after all
Development mutations may be present in only one of monozygotic twins, researchers say
An athlete receives a heart-stopping diagnosis
An incidental finding noted during a first-aid training course is the initial clue to a patient's potentially fatal condition.
How a tiny worm is helping to find a cure for an extremely rare cancer
When the Williamson family from Dundee, UK lost their mother Sue to a rare cancer named phaeochromocytoma in 2003, they didn’t realise that further devastation was…
Retinal imaging may predict familial Alzheimer’s disease
Study in a Colombian kindred with a dominant mutation showed pathology visible in patients' 30s
What congenital condition is affecting this eye?
Jessie, a 20-year-old physiotherapist, presents for a review of her vision.
