Queensland scientists have moved a step closer to new treatments for a rare degenerative brain disease.
Ataxia telangiectasia is an inherited disease causing severe disability, a weakened immune system, susceptibility to infection and an increased risk of cancer.
It affects between one in 100,000 and one in 300,000 people and is ultimately fatal.
Patients are frequently confined to a wheelchair by their early teenage years and generally die by their 20s.
People with the disease can develop cancer and brain degeneration because a gene that recognises and repairs DNA damage is defective.
Researchers from the University of Queensland's Australian Institute for Bioengineering and Nanotechnology have found a way to develop brain cells to study in the lab from the skin cells of children.
By reprogramming the skin cells into stem cells, then brain cells, researchers hope to be able to correct the genetic mutations and demonstrate that they can replace the defective cells that cause the problems in the disease.
Replacing the defective cells with corrected cells, or developing new drugs using the cells in the study, could help treat the disease.
The researchers could start screening medicines in one to two years, but testing in animals would have to be completed before they could be used in humans.
The skin cell reprogramming research has been published in the journal Stem Cells Translational Medicine.
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Rare disease treatment hope