- Huntington’s disease results in the death of brain cells and is caused by trinucleotide repeat expansion in the Huntingtin gene.
- Batten disease affects the nervous system and leads to blindness, dementia and seizures, among other symptoms. It usually begins in childhood. Several genes are associated with the disease, however, alterations of the gene CLN3 are the most prevalent.
- Spinal muscular atrophy is caused by a genetic defect in the SMN1 gene, which is responsible for the survival of motor neurons.
The Eurofins Foundation is aware of the importance of rare disease research and has therefore decided to support the non-profit NCL Foundation, which focuses on Batten disease. Until now, research into Batten disease, which encompasses a group of disorders called neuronal ceroid lipofuscinoses (NCLs), has hardly been. The NCL Foundation brings together researchers, professionals and groups from different fields to initiate and support research on NCLs.
The donation by the Eurofins Foundation will be utilised for a PhD position on supporting the development of a CLN3 assay for a proposal at the National Center for Advancing Translational Sciences (NCATS). The aim is to eventually provide an approved diagnostics tool for Battens disease.
Read the press release about the donation by the Eurofins Foundation to the NCL Foundation at URL ???
Learn more about the Eurofins Foundation at www.eurofins.com/eurofins-foundation or get in contact Emilie Fillod, Eurofins Foundation Manager, via email: email@example.com.