5-years old Karolina is one of the children with Cockayne syndrome – type B
Cure for children
with Cockayne Syndrome type B
We are on a mission to help develop gene therapy for Cockayne syndrome – type B (CSB, mutation in gene ERCC6)
Fundraising goal: 2.144.000$ (2.000.000€)
Raised so far: 1.988.282$ (1.855.000€)
Help us save lives of children with this devastating and deadly rare genetic disease
Cockayne syndrome type B
is a very rare and complex genetic disorder that affects multiple organs systems and has a fatal outcome. The underlying cause of this condition are mutations in the ERCC6 gene, which disrupts the cellular repair mechanisms, giving rise to symptoms that resemble premature aging.
In Viljem Julijan Association for Children with Rare Diseases we are on a mission to develop gene therapy for Cockayne syndrome type B and we are raising funds to support research and development of gene therapy. Our mission was initiated by 5-years old girl Karolina who has Cockayne syndrome – type B and with her parents we wish to save her life. We have partnered with two research groups in USA and Portugal, which are developing gene therapy for CSB.
Watch & Listen to our reserch team
Has your child or loved one been diagnosed with Cockayne syndrome – type B?
What is Cockayne syndrome type B
Cockayne syndrome – type B (CSB) is a rare genetic disorder. It is a progressively devastating disease, characterised by early severe progression of symptoms which display multiorgan dysfunction. It causes premature aging (progeria), intellectual disability, photosensitivity, and moderate to severe learning delay. Individuals with CSB may also have photosensitivity, hearing loss, vision problems, dental abnormalities, and skeletal abnormalities.
The disease is caused by mutations in the ERCC6 gene. This gene provides instructions for making a protein called DNA excision repair protein or CS group B protein (CSB) This protein plays a role in repairing damaged DNA.
Our research teams
dr. Clévio Nóbrega
Algarve Biomedical Research Institute, Portugal
dr. Christina Pacak
Medical School, University of Minnesota, USA
prof. Peter Kang, MD
Medical School, University of Minnesota, USA
This is Karolina’s heartfelt story with Cockayne syndrome type B, which her parents Borut and Sabina entrusted us
Our daughter Karolina has been diagnosed with a devastating and deadly rare genetic disease called Cockayne syndrome – type B. This disease causes severe growth failure, neurological deterioration, premature aging, and increased risk of cancer. There is no cure and most children with this condition do not survive beyond their teens.
We are desperate to find a way to save our precious girl and give her a chance at a normal life. That is why we have launched this website to raise funds for research and treatment of Cockayne syndrome. We believe that with your generous support, we can make a difference for Karolina and other children like her who are suffering from this terrible disease.
Please consider making a donation today and sharing this website with your family and friends. Every dollar counts and every gesture of kindness matters. Together, we can give hope to Karolina and show her that she is not alone in this fight. Thank you for your compassion and generosity.
