Cystic fibrosis

Moving toward precision medicine with stem cells


Inducing the formation of pluripotent stem cells from a patient’s blood or skin cells provides the ultimate personalised tool for researching lung diseases including cystic fibrosis, delegates have heard in a session on precision medicine in lung disease.

Presenting during a basic science session on Sunday called Moving Toward precision Medicine for Lung Disease Dr Amy Firth from the University of Southern California in Los Angeles told delegates how research in her lab used stem cells as a tool to study human lung biology in health and disease.

The technique, discovered only about a decade ago, allows mature, differentiated cells to be reprogrammed to the state of undifferentiated embryonic cells.

“These cells then have the potential for unrestricted differentiation into any type of mature cell, and the supply is unlimited,” Dr Firth said.

Stem cells are much preferred to culturing cells from a patient’s lung tissue, as they have been altered by the disease itself and usually exposed to a variety of treatment. Stem cells contain the patient’s basic genetic material, providing an opportunity to explore how the disease developed and its likely response to treatment.

“Induced pluripotent stem cells effectively allow us to reverse time,” she said. “We can then manipulate cytokines, growth factors and cell signalling so they differentiate into a particular cell type and reproduce.”

Dr Firth has focussed on the mutations that occur in cystic fibrosis and primary ciliary dyskinesia.

“There are more than 2000 documented mutations to the CFTR gene that controls chloride transport in CF,” she said. “We have been able to manipulate and normalise one of those mutations, and then promote the development of healthy cells.”

Implantation of stem cells or genetically modified, differentiated cells to treat disease has been fraught with difficulty.

Instead, the current hope is that pluripotent stem cells will allow researchers to create a ‘disease in a dish’.

This would allow, for example, a personalised drug screen to check for efficacy and toxicity of existing treatments. It would also facilitate research into the causes of the disease, large-scale screening of potential drugs, assessment of biomarkers and other research, without any risk to patients.

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