Nuala Summerfield, Founder of The Schinzel-Giedion Syndrome Foundation with her daughter Ophelia. Submitted by Nuala Summerfield.

Source: Research and Innovation Office

The European Joint Programme on Rare Diseases (EJP RD) has granted 1.6 million euros in support of an international research collaboration specific to the ultra-rare genetic disease, Schinzel-Giedion Syndrome (SGS). The international team of researchers is coordinated by the Douglas Research Centre and McGill’s Associate Professor and Canada Research Chair in Psychiatric Genetics, Carl Ernst. The EJP RD is a joint program between major funding bodies from over 25 countries, including the CIHR and FRQS.

“We could not be happier to partner and collaborate with families affected by SGS to advance treatments for this disease,” said Ernst. “With this EU support, our international group of experts has the opportunity to drive science forward and hopefully reduce suffering in children with this neglected rare disease.”

This grant represents the first major funding ever awarded specifically for SGS treatment research.

Schinzel-Giedion Syndrome is a very rare genetic disorder. Less than 100 children worldwide have been diagnosed with SGS but the true incidence is expected to be higher. SGS is caused by mutations in the SETBP1 gene, located on chromosome 18. SETBP1 protein appears to play an important role in the developing embryo. Children with SGS have too much SETBP1 protein and this is thought to cause abnormal brain development, as well as abnormalities with other developing organs resulting in gastrointestinal, urinary and respiratory tract problems, together with an increased risk of certain types of cancer.

Medically refractory epilepsy is a major health and quality-of-life issue for children born with SGS. Most children with SGS have frequent, severe and at times fatal seizures. The seizures are not treatable with any known medication. Using brain cells derived from stem cells, the Ernst lab is investigating the DNA mutation that causes Schinzel-Giedion syndrome. Working closely with families impacted by the disease, the lab and partners will use the new funding to investigate the disease pathology by specific cell types cells derived from patients and their families, in hopes of identifying potential therapeutics to alleviate suffering, specifically seizures.

Read the release from the SGS Foundation
Results of EJP RD Joint Transnational Call (JTC2020)


February 4, 2021