Name: Eyebrow DNA testing cracks rare blood disease cases
Uploaded: 2025-12-10T06:41:38.960Z
Duration: 1 min 35 s
Description: Researchers in Melbourne have used eyebrow hair DNA to accurately diagnose rare inherited blood diseases, providing answers for patients who previously lacked definitive diagnoses.

Researchers in Melbourne have used eyebrow hair DNA to accurately diagnose rare inherited blood diseases, providing answers for patients who previously lacked definitive diagnoses.

Melbourne

Researchers at the Peter MacCallum Cancer Centre in Melbourne have developed a new method for diagnosing rare inherited blood diseases by analyzing DNA from eyebrow hairs. This approach has enabled accurate diagnoses for over a third of 237 patients with inherited bone marrow failure syndrome, including individuals who had previously received inconclusive or incorrect diagnoses.

The technique, which avoids using blood samples affected by disease, has led to the discovery of new diseases and genetic variants. Patients like John Wilson have gained clarity about their conditions and greater confidence regarding future family planning, as the method also provides insight into hereditary risks.

Eyebrow DNA testing cracks rare blood disease cases

John Wilson was born with a rare blood condition, which as a child was incorrectly diagnosed as congenital dysarthropoietic anaemia. There was always this, we think it's this, but there was never any concrete proof to say that this is 100% what your diagnosis is. And that's very common because it's been impossible to identify many of the exact disorders of patients who have rare inherited blood diseases until now, thanks to the testing of eyebrow hairs. Interestingly, eyebrow hair actually gives you the most amount of DNA out of any hair. We can't use blood because blood's where the disease is. Researchers at Peter Mack took eyebrow hairs from 237 patients with inherited bone marrow failure syndrome and mapped their entire genome, which provided more than a third of participants with an accurate diagnosis for the first time, including John, who finally has answers. It's quite healing to actually know that, yes, I've got this genetic condition, it's a couple of windows have opened in terms of treatment plans. This way of testing dramatically widens what scientists can see in our genetic code and is already allowing researchers to make breakthroughs on blood diseases. We've discovered new diseases, new novel variants, new genomic tests and able to make diagnoses that haven't been made before. For John, his treatment stays the same and now he has peace of mind that if and when he does have children of his own, he won't pass on his blood disease. I've got a lot more confidence now about what I can and can't do. Harvey Biggs, 10 News.

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