Joe Karlecik shares his experience living and thriving with Phenylketonuria (PKU) a rare condition identified by newborn screening at birth.
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The Murdoch Children's Research Institute blog Featuring stories, opinons and news from our research team, patients and staff.
Personalised medicine is the concept of using your personal genetic information to treat you in a way that is specific to you. By analysing your unique DNA sequence, it may be possible to predict and prevent disease, as well as to tailor specific treatments when disease does occur.
For many of us, helping ourselves to an extra slice of turkey or a few glasses of bubbles are choices synonymous with festive occasions over the holiday season. Let’s face it, consuming delicious food is an enjoyable experience especially when in the presence of family and friends.
Sara was born on a rainy Sunday, the first child to her adoring and overwhelmed parents. Her mother’s pregnancy had been uneventful, and all their antenatal tests normal. Then someone examined her and ordered X-rays. Next, her unbelieving parents were being told that their gorgeous baby had a genetic bone growth disorder, a form of dwarfism.
If you have ever wondered why humans have conquered planet earth’s most extreme environments and survived for millennia, the answer may be at hand. It looks like we had a little help from our bacterial friends.
Peanut allergies have become increasingly prevalent in today’s younger generation. This is especially true in Melbourne where our unexpectedly high rates of food allergies have led to our city being dubbed the “Food Allergy Capital”.
Puberty has long been recognised as a transition point in which many emotional and behavioural problems emerge. These include depression and anxiety, substance use and abuse, self-harm and eating disorders.
Each year, thousands of Australians are diagnosed with an inherited condition that affects their nervous system. Neurogenetic disease is an umbrella term to describe these conditions, which are primarily caused by an alteration – or mutation – in our DNA.
We still do not know what causes autism, but insights from the burgeoning field of epigenetics are helping to reveal the subtle factors that can contribute to the disorder.
Babies conceived through in vitro fertilisation (IVF) mostly grow up to be healthy adults and compare well to those conceived naturally, according to research my colleagues and I have just published in the journal Fertility and Sterility.