The Slovenia Times

Charity raises €2m for development of drug for rare disease

Health & Medicine

A charity led by the parents of a child with a rare genetic condition, congenital CTNNB1 gene mutation, has raised more than €2 million for research that would lead to a gene therapy.

Called CTNNB1 Foundation, the charity aims to help Urban Miroševič as well as other kids suffering from this rare severe neurodevelopmental disorder, which is caused by changes in the CTNNB1 gene.

The fundraiser was launched in 2021 and featured a series of concerts around the country under the headline Steps for Urban plus SMS donations and other types of contributions.

A who is who of Slovenian celebrities have taken part, with the campaign culminating with a concert in Ljubljana on 27 June that included folk-rock star Vlado Kreslin, boy band Joker Out, which represented Slovenia at this year's Eurovision, and Croatian singer Danijela Martinović.

The concert netted €168,000, pushing the campaign over its final goal. In total, €2.1 million was raised.

The first cases of the syndrome were reported in 2012, and since then it has been detected in several hundreds of people around the world.

In order to come up with a cure, Urban's parents joined forces with Slovenian and foreign researchers and launched a global project to develop a gene therapy programme that would help their kid as well as others living with this disorder.

This is not the first such effort spearheaded by a Slovenian charity. The Viljem Julijan Association, named after a child who died of a rare disease, is in the midst of developing a gene therapy for Cockayne syndrome B.

They have already raised the necessary funds and two research groups, one in Portugal and one in the United States, are in the midst of developing a therapy. Animal testing is currently under way.


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