Scientists correct defective gene in stem cells in fight against rare and deadly ataxia telangiectasia or AT
February 27, 2016 7:00am
Janelle Miles The Courier-Mail
http://www.couriermail.com.au/news/queensland/scientists-correct-defective-gene-in-stem-cells-in-fight-against-rare-and-deadly-ataxia-telangiectasia-or-at/news-story/f8e20051a74e34c01d6120d9dfe9e3cf
QUEENSLAND scientists have corrected a devastating genetic defect in cells harvested from patients with an extremely rare, terminal condition, providing hope for the development of a *treatment.
In what amounts to genetic editing, the University of Queensland researchers have collected skin cells from patients with ataxia telangiectasia, or AT, reprogramming them in a petri dish to form stem cells and then *replacing a faulty gene with corrected DNA.
AT is a debilitating condition affecting about 50 Australians, mostly children. Patients rarely live beyond early adulthood and are usually in wheelchairs by their teens.
They are at increased risk of developing cancer and are also susceptible to life-threatening infections.
People with AT inherit defective copies of a gene dubbed ATM from both parents.
Queensland scientists used genetic “scissor” technology to extract the defective ATM gene from patient stem cells.
They were then able to replace the DNA fault with a healthy version of the gene in what is considered a breakthrough for the disease.
Professor Ernst Wolvetang, of the Australian Institute for Bioengineering and Nanotechnology, based at UQ, said the researchers had transformed the corrected stem cells into neurons and had started to transplant them into the brains of mice.
University of Queensland researchers are replacing a faulty gene with corrected DNA.
Although much more animal research is needed, his hope is to have a stem cell treatment ready for experimental human trials in AT patients within five years.
AT affects a portion of the brain, known as the hindbrain, controlling movement, breathing and swallowing.
Prof Wolvetang, who has just turned 50, has set himself a target to find a cure for “at least” two diseases by the time he retires.
“On my death bed, I want to be able to look back and say: ‘We fixed a disease and these children are no longer dying, or they are living much longer with much better quality of life,” he said.
Prof Wolvetang said Australian stem cell researchers were severely underfunded compared with colleagues in the US, Europe and China.
“There’s a need in Australia to start supporting stem cell research more seriously,” he said.
Ely Pleitez, 26, has lived much longer than expected after being diagnosed with AT as a toddler. Doctors told her mother she would probably not survive beyond 10.
She said research gave her hope that “there is a chance to find a cure or something to help us with daily life”.
Brisbane-based AT charity BrAshA-T has provided funding for Prof Wolvetang’s research.
To donate, visit: *brashat.org.au
February 27, 2016 7:00am
Janelle Miles The Courier-Mail
http://www.couriermail.com.au/news/queensland/scientists-correct-defective-gene-in-stem-cells-in-fight-against-rare-and-deadly-ataxia-telangiectasia-or-at/news-story/f8e20051a74e34c01d6120d9dfe9e3cf
QUEENSLAND scientists have corrected a devastating genetic defect in cells harvested from patients with an extremely rare, terminal condition, providing hope for the development of a *treatment.
In what amounts to genetic editing, the University of Queensland researchers have collected skin cells from patients with ataxia telangiectasia, or AT, reprogramming them in a petri dish to form stem cells and then *replacing a faulty gene with corrected DNA.
AT is a debilitating condition affecting about 50 Australians, mostly children. Patients rarely live beyond early adulthood and are usually in wheelchairs by their teens.
They are at increased risk of developing cancer and are also susceptible to life-threatening infections.
People with AT inherit defective copies of a gene dubbed ATM from both parents.
Queensland scientists used genetic “scissor” technology to extract the defective ATM gene from patient stem cells.
They were then able to replace the DNA fault with a healthy version of the gene in what is considered a breakthrough for the disease.
Professor Ernst Wolvetang, of the Australian Institute for Bioengineering and Nanotechnology, based at UQ, said the researchers had transformed the corrected stem cells into neurons and had started to transplant them into the brains of mice.
University of Queensland researchers are replacing a faulty gene with corrected DNA.
Although much more animal research is needed, his hope is to have a stem cell treatment ready for experimental human trials in AT patients within five years.
AT affects a portion of the brain, known as the hindbrain, controlling movement, breathing and swallowing.
Prof Wolvetang, who has just turned 50, has set himself a target to find a cure for “at least” two diseases by the time he retires.
“On my death bed, I want to be able to look back and say: ‘We fixed a disease and these children are no longer dying, or they are living much longer with much better quality of life,” he said.
Prof Wolvetang said Australian stem cell researchers were severely underfunded compared with colleagues in the US, Europe and China.
“There’s a need in Australia to start supporting stem cell research more seriously,” he said.
Ely Pleitez, 26, has lived much longer than expected after being diagnosed with AT as a toddler. Doctors told her mother she would probably not survive beyond 10.
She said research gave her hope that “there is a chance to find a cure or something to help us with daily life”.
Brisbane-based AT charity BrAshA-T has provided funding for Prof Wolvetang’s research.
To donate, visit: *brashat.org.au