Category Archives: Garvan Institute of Medical Research

Clinical trial to test potential new combination therapy for aggressive breast cancer

Researchers are recruiting volunteers for a clinical trial they hope will improve survival rates for an aggressive form of breast cancer that affects about 1,500 women each year in New South Wales.

The trial will test a new strategy in cancer treatment: using a new therapy to target a ‘defence switch’ on cancer cells that alerts cancer to the threat of chemotherapy.

The trial aims to improve survival rates for patients with triple negative breast cancer, a treatment-resistant form of cancer that can quickly adapt against chemotherapy. It will commence in August.

It will be led by Associate Professor Christine Chaffer and Dr Beatriz San Juan from the Garvan Institute of Medical Research, and Senior Staff Specialist in medical oncology Dr Rachel Dear of St Vincent’s Hospital Sydney. The trial will be conducted at The Kinghorn Cancer Centre in Darlinghurst.

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Stem-cell models reveal glaucoma secrets

Australian researchers uncover hidden genetic markers of glaucoma.

Stem cell models of the retina and optical nerve have been used to identify previously unknown genetic markers of glaucoma, in research jointly led by scientists from the Garvan Institute of Medical Research, the University of Melbourne, and the Centre for Eye Research Australia. The findings open the door to new treatment for glaucoma, which is the world’s leading cause of permanent blindness.

“We saw how the genetic causes of glaucoma act in single cells, and how they vary in different people. Current treatments can only slow the loss of vision, but this understanding is the first step towards drugs that target individual cell types,” says Professor Joseph Powell, joint lead author at the Garvan Institute of Medical Research.

The research, published in the journal Cell Genomics, comes out of a long-running collaboration between Australian medical research centres to use stem-cell models to uncover the underlying genetic causes of complicated diseases.

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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’.

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