Rare Disease Day 2021

Eurofins gets involved in the Rare Disease Day

Through the Eurofins Foundation, Eurofins Genomics donates to rare disease research on neuronal ceroid lipofuscinoses (NCLs).
Between 6,000 and 8,000 rare diseases affect around 300 million people worldwide. The majority of rare diseases are caused by genetic alterations, such as Huntington’s disease, Batten disease and spinal muscular atrophy. For most rare diseases, however, no cures exist yet, and even care for those affected by rare disease is often far from optimal.
The aim of rare disease research is multifaceted. On one hand, researchers want to advance the understanding of the mechanisms of rare diseases and eventually find cures, but they also want to broaden the understanding of molecular connections and interactions.
Furthermore, rare disease research also aims to empower patients and make them valued partners in the research process.

Read full Press Release

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: emiliefillod@eurofins.com.

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