Scientists and researchers of the Clinical Institute of Medical Genetics at the Ljubljana University Clinical Centre (UKC Ljubljana) have discovered a new gene for the premature ageing condition known as progeria.
This achievement is of critical importance for patients and the development of related treatments, and was conducted by researchers at the UKC within the framework of an international research project. In addition to Slovenian scientists and researchers, the study involved 12 experts from other countries.
The head of the Institute, Dr. Borut Peterlin, compared this breakthrough in genetics with the discovery of a new planet.
The cause for the start of the research was the death of Tibor, a baby born with a genetic disorder who died at six months. Dr. Aleš Maver from the Clinical Genetics Institute revealed that special technology for sequencing genes was used for the first time in Europe as part of this project. The scientists compared Tibor’s genes with those of his healthy parents. The results were also compared with data obtained from similar patients from Spain and Italy, and thus the new gene was identified.
Dr. Borut Peterlin noted that we only know 15 percent of the human genome, and so we do not know how important the rest of are, or the effects they have, and this is what makes this discovery even more important. With its help the doctors will be able to better understand the aging process and carry out more successful diagnoses, as they will be able to recognize rare genetic diseases on the basis of this gene, and its mutations may help immensely with some other conditions, as such as cancer and obesity.
Irena Lesjak, the mother of little Tibor, who died four years ago, stated that she is glad that her son was able to fulfil this special mission and help many children with similar diagnoses. During her pregnancy she did not need or receive any special treatments until the eighth month, when a routine examination showed that the baby had delays in growth and was not progressing normally, after which the doctors suggested a caesarean.
If you want to learn more about progeria, a look at this TedEx talk of Sam, who was diagnosed with the rare disease, and the beautiful message he shared.