Genetic carrier screening: What GPs need to know The RACGP is offering training in carrier screening, covering the knowledge and skills required to initiate the important conversation with patients.
Spinal muscular atrophy: The top genetic killer of infants under two The RACGP is offering new accredited training to help upskill GPs to recognise the warning signs for spinal muscular atrophy.
Australian geneticist discovers new condition causing blindness The newly identified ROSAH syndrome causes blindness, splenomegaly and migraine headaches.
Founder of Australia’s first GP-based genetic counselling clinic While he was happy working as a GP, Dr Cohen’s direction changed when his son was diagnosed with Fragile X syndrome.
More than just birthmarks: Living with neurofibromatosis While neurofibromatosis is not uncommon, it is also not widely known about or understood. Dr Caroline Phegan has two children with the condition, and wants to raise awareness among her fellow GPs.
Epidermolysis Bullosa, the worst disease you have never heard of Eliza Baird was born with a rare genetic condition, giving her skin as fragile as butterfly wings. She was one of ‘The Butterfly Children’.
What GPs need to know about the rising popularity of personal genomic testing For a few thousand dollars, anyone can send off a cheek or saliva swab to have it tested by a personal genomic testing company.
The role of GPs in genetic testing advice The increasing availability of genetic testing means GP involvement with prenatal and antenatal care is becoming more important.