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The 'Charity Box' donated to the CTNNB1 Foundation

 

That charity is what caresses the soul and the heart may seem like a phrase heard many times before. And yet it is true, every good deed, even the smallest, is something priceless. That's why last December, the staff and the Institute as an institution joined charitable initiatives. The money raised was donated to the CTNNB1 Foundation, a research institute in the field of gene therapy.

Giving to charity is something that enriches and makes both the recipient and the giver happy. Whether it's kindness, attention, a small gift or much-needed financial help, it all counts. That's why, last December, we at the Institute of Chemistry decided to join charitable initiatives as an institution. The Institute's charity drive was called 'Charity Box', and we decided to donate the funds raised to the Slovenian CTNNB1 Foundation, which runs the global gene therapy program for CTNNB1 syndrome. Employees contributed to the best of their ability, and the Institute contributed an additional euro for every euro raised. We succeeded in raising 3,570.00 euros. In this way, together we contributed to spread the noble mission of the said Foundation.

CTNNB1 syndrome is a disorder associated with developmental delay, mental retardation and delayed or absent speech. CTNNB1 syndrome occurs when one of two copies of the CTNNB1 gene loses its normal function. It usually recurs, which means it was not inherited from the parents. The first cases of CTNNB1 syndrome were reported in 2012. Since then, more than 300 children have been identified with the same condition. Recent studies report that the CTNNB1 gene is the most common cause of misdiagnosed cases of cerebral palsy.

The CTNNB1 Foundation is dedicated to helping children with this rare genetic disorder, which affects nearly all aspects of their lives, including the ability to walk, talk, think and socialize, live full lives. A genetic disorder is caused by a defective or inactive gene. Gene therapy allows the introduction of a replacement copy of a defective gene using the AAV9 vector. Replacing a defective gene in this way makes it possible to cure or alleviate the symptoms of a genetic disease.

The Institute of Chemistry is also involved in the aforementioned foundation's program through research work. It has not received any funds from the said foundation for this research work and will not do so in the future.

 


Urban Miroševič is the first child in Slovenia to be diagnosed with the rare genetic disorder CTNNB1 syndrome.

 

More information: https://ctnnb1-foundation.org/sl/domov/

 

 

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