An immune ‘fingerprint’ reveals path for better treatment of autoimmune diseases

An immune ‘fingerprint’ reveals path for better treatment of autoimmune diseases

Most autoimmune diseases are easy to diagnose but hard to treat. A paper published in Science proposes using your unique immune cell fingerprint to rapidly identify which treatments will work for your autoimmune disease.

‘We analysed the genomic profile of over one million cells from 1,000 people to identify a fingerprint linking genetic markers to diseases such as multiple sclerosis, rheumatoid arthritis, lupus, type 1 diabetes, spondylitis, inflammatory bowel disease, and Crohn’s disease,’ says Professor Joseph Powell, joint lead author at the Garvan Institute of Medical Research. ‘We were able to do this using single cell sequencing, a new technology that allows us to detect subtle changes in individual cells,’ he says.

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Single test for over 50 genetic diseases will cut diagnosis from decades to days

A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.

‘We correctly diagnosed all patients with conditions that were already known, including Huntington’s disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor neuron disease and more,’ says Dr Ira Deveson, Head of Genomics Technologies at the Garvan Institute and senior author of the study.

The diseases covered by the test belong to a class of over 50 diseases caused by unusually-long repetitive DNA sequences in a person’s genes – known as ‘Short Tandem Repeat (STR) expansion disorders’.

Continue reading Single test for over 50 genetic diseases will cut diagnosis from decades to days