What’s causing this patchy skin and photophobia?
Arti is a two-year-old child who has recently migrated to Australia. She presents with her parents regarding dry skin, photophobia and irritated ey…
Tag: Genetics
What’s causing these persistent yellow spots?
A 24-year-old woman presents with a one-year history of multiple asymptomatic firm skin-coloured-to-yellow papules around 2mm in diameter on her ba…
A vegetarian complains of polyarthralgia and tiredness
Should he exercise more and change his diet?
How would you manage this high-risk pregnancy?
Sally is a 25-year-old primigravida who is referred for further assessment.
The secrets of 2700 cancers have been revealed: How will it help us?
Genetic secrets of almost 2700 cancers unveiled by landmark international project
What the genetic secrets of almost 2700 cancers can teach…
Genome sequencing: patients may consent without understanding
Qualitative study finds patients with cancer wrestle with decision-making on testing.
Puzzle of Amish children’s deaths solved
The exercise-associated sudden deaths were caused by a gene mutation likely inherited from a common ancestor, say researchers.
A GP guide to genetic conditions in childhood
There has been a major shift in the way genetic conditions are diagnosed and managed in Australian children over the past decade, as well as moves …
Scientist who genetically edited babies jailed
The gene-editing experiment was labelled 'monstrous'.
Patients at risk of pancreatic cancer ‘value counselling’
Researchers report first results from screening patients with family history.
