John Hutchins lives with epidermolysis bullosa, a very rare and painful disease that results in sores and blisters on his skin. His family is taking part in a new documentary raising awareness about the disease, and is assisting the search to find a cure.
In Iceland, there are almost no babies born with Down syndrome. It's raised concerns from disability advocates
Prenatal testing means some genetic conditions, like Down syndrome, can be identified in utero. But experts say it raises complex and challenging questions about how we value people with disabilities.
Photo shows An illustration of a line of silhouetted people walking along a DNA spiral.Funding boost to childhood dementia research to help kids 'fulfil their dreams'
Childhood dementia kills as many Australian children as cancer but the former receives much less funding. The South Australian government has stepped in to help families like Renee Staska whose three children are living with the illness.
Photo shows A young girl smilingAfter 16 years, Dominic's family finally know what to call the rare condition he's been living with since birth
The teenager took part in a three-year Queensland Health pilot study using whole genome sequencing of children with rare conditions.
Photo shows A faA family at a young man's brithday dinner. He has cake and silver balloon shaped in the number 16.Brain of little 'angel' donated for research after 3yo dies of rare disorder
Blair Snelgar would have celebrated her fourth birthday this weekend but, instead, her Queensland family is preparing to honour the memory of their happy little girl with the infectious laugh.
Photo shows A little girl in a pretty dress smiling for the cameraFuture of genetic testing threatened by life insurance catch as Australian comedian Michelle Brasier discovers
The comedian has a 97-per cent chance of contracting cancer, but taking a genetic test to shed more light on the risk could ruin her chances to obtain life insurance.
Photo shows image of woman with curly hair in green shirt smilingMould in Prudence's rental home could have killed her, but help came from a surprising place
A renter says her life was saved by a concerned property agent after mould began to engulf the walls of her former home.
Photo shows Woman smiling leaning on fenceDenise was fighting daily exhaustion and pain. Giving blood was the answer
It's the most common genetic disorder in Australia that leaves people tired and lethargic, but you've probably never heard of it.
Photo shows an image of a middle aged woman with brown hair wearing a coloured shirtLack of awareness hindering treatment of childhood dementia
Loved ones of those with the condition say a lack of understanding makes it hard to get them help.
Has Video Duration: 9 minutes 11 seconds.Archer's doctor says his genetic condition means he can have all the junk food he wants
Archer Brady's family has a long association with Jeans for Genes Day. It wasn't until he was diagnosed with cystic fibrosis that it became personal.
Photo shows The face of this year's Jeans for Genes campaign, Archer Brady happily poses in jeans, a blue shirt against a blue background.Australians skipping genetic screening tests out of fear it will affect life insurance coverage
Life insurance companies are accused of "genetic discrimination" in determining coverage and premiums, with researchers finding some Australians are skipping tests that could detect risk of disease to avoid the results affecting their life insurance.
Photo shows Gloved hand holding genetic test tubeA glimpse into the life of a two-year-old who has been flown to hospital seven times in her young life.
Raising awareness of Dravet syndrome, a rare form of epilepsy.
Has Video Duration: 52 seconds.Cardiologist says genetics will play greater role in future cases
Prof. Christopher Semsarian says genetic makeup has become like a fingerprint and DNA will play more and more of a role in future cases.
Has Video Duration: 4 minutes 45 seconds.Edward has a rare degenerative condition. His parents hope a US research trial will produce a treatment
Parents of a Bendigo boy have spent years trying to understand their son's rare degenerative condition called KAND, but a new research trial could help provide him with a treatment.
Photo shows A woman smiling, couched beside a 12 year old boy in a wheelchair.Mother raising awareness of Prader-Willi Syndrome
Kellie Szentirmay says she's worried the syndrome, also known as hunger disorder, will prevent her daughter from having a normal life.
Has Video Duration: 48 seconds.There's more to 'smiley' Evie's syndrome than an insatiable, life-threatening hunger
Prader-Willi syndrome is experienced as an insatiable and dangerous hunger. But parents and advocates say the reality of the condition is far more complex.
Photo shows A baby sitting up, smiling, with a book in her hands.Adelaide teen becomes sixth person in Australia to receive breakthrough gene therapy for rare eye condition
Even on a clear night, the sky used to be almost totally dark for Adelaide teenager Orlando Lupoi — but when he looked up a few months ago, he realised his life had changed.
Photo shows A teenage boy with glasses stands next to a woman, pictured at night with lights behind them'The biggest mistake of our lives': US fertility clinic sued for using embryo with deadly cancer gene
A California couple has sued a fertility clinic, saying it allegedly implanted an embryo carrying a rare gene that causes deadly stomach cancer and then falsified records to cover up its mistake.
'I've never cried so much publicly': Bradley wrote his own eulogy. Then he read it to his friends
Bradley Dryburgh has been having emotional conversations on his podcast for more than two years, but he did not expect a video of him sobbing to be the one that went viral.
Photo shows Bradley sits in a studio setting, smiling and wearing a white t-shirt.'I was considering my options after a break-up': Why Chantel decided to freeze her eggs
"They're well educated, professional jobs, earning good incomes – and single." Meet the Australian women who are freezing their eggs.
Photo shows Chantel PountneyHanna is on a trip of a lifetime five years after shock diagnosis
Hanna Nijenhuis life changed at the age of 20 when she lost most of her eyesight due to a rare genetic disease. That hasn't stopped her taking on a solo backpacking adventure.