iPS technology has made it possible to reprogramme ordinary adult cells, including skin cells, into stem cells. They in turn can be developed into other cell types, like heart cells.
Hypertrophic cardiomyopathy (HCM) is a hereditary condition where part of the heart thickens. The FinHCM research team led by Professor Johanna Kuusisto has identified four major Finnish mutations that account for more than a quarter of all HCM diagnoses in Finland. Using iPS technology, skin cells from persons carrying some of these mutations have been reprogrammed into iPS cells and further into heart muscle cells. These cells can shed light on how hypertrophic cardiomyopathy develops – and why it does not develop in all carriers.
Professor Johanna Kuusisto's interview on Academy of Finland's YouTube channel.