RARE Daily

Foundation for USP7 Related Diseases Makes Grant to Neurolentech

April 5, 2021

Rare Daily Staff

The Foundation for USP7 Related Diseases said it awarded a two-year $100,000 grant to Neurolentech in a search for a cure for the rare disease Hao-Fountain syndrome, which is caused by USP7 mutations.

The Austrian startup Neurolentech, co-founded by Gaia Novarino, a professor of neuroscience at the Institute of Science and Technology Austria (IST Austria), will receive $100,000 over two years towards funding studies that will focus on modeling Hao-Fountain syndrome in cells.

Hao-Fountain syndrome is a rare genetic disorder caused by mutations in the USP7 gene, with just 80 known patients worldwide. It leads to autism spectrum disorder, increased prevalence of epilepsy, developmental delay/intellectual disability, abnormal brain MRIs, speech impairment, hypotonia, gastrointestinal issues, and eye anomalies.

Neurolentech will develop and characterize neuronal cultures with USP7 gene mutations using transcriptomics, morphology, and electrophysiology, in order to seek biomarkers in those models for potential drug treatments. Novarino’s lab at IST Austria will analyze a haploinsufficient USP7 mouse model to gain a better understanding of the biological mechanisms underlying Hao-Fountain syndrome.

This grant is the result of years of fundraising from the Foundation for USP7 Related Diseases, including hundreds of donations from all over the world, including from its sister organization in France, Manger La Vie, which also seeks to cure Hao-Fountain syndrome. 

“Basic research into the mechanisms of neurodevelopmental disorders like Hao-Fountain syndrome will provide the most promising approach to help the patients,” said Novarino. “The only way to deal with not knowing is to start investigating.”

Photo: Gaia Novarino, a professor of neuroscience at the Institute of Science and Technology Austria

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