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Genetic carrier screening: What GPs need to know

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

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

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

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

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

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

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 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.


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