![]() ![]() The gene does not give rise to a protein but to a so-called micro-RNA (miR-140), a small RNA molecule that regulates other genes. Together with Fulya Taylan, assistant professor at the same department at Karolinska Institutet, the disease causing mutation in a gene called MIR140 was identified. The results of these efforts are now published in a study in Nature Medicine, in which Giedre Grigelioniene and her colleagues describe the new skeletal disease - a type of skeletal dysplasia - and its mechanism. I was convinced that we were looking at a new diagnosis that had not been described before."Ī long, arduous process then began to examine the finding further. "They'd received a different diagnosis previously, but it didn't fit with what we were seeing in the X-rays. "They came to my clinic," says the study's lead author Giedre Grigelioniene, physician and associate professor at the Department of Molecular Medicine and Surgery, Karolinska Institutet. The newly identified skeletal disease was first observed in a parent and a child from a Swedish family. ![]()
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