Research grant of over 2 Million Euros ($2.5Million) offers new hope for children with rare condition Schinzel-Giedion Syndrome

Nuala Summerfield
Mob: +44 (0)7957 168815

January 27th 2021; Crawley, West Sussex, UK: Funding from two major European grants has been awarded to an international group of researchers to find treatments for the devastating rare genetic disease Schinzel-Giedion Syndrome (SGS)

The grants are the first major funding awarded for SGS research.

Nuala Summerfield, Founder and Chair of UK based patient group The Schinzel-Giedion Syndrome Foundation said: “My daughter Ophelia has Schinzel-Giedion Syndrome and has battled her entire short life with multiple daily seizures and many other severe health and developmental problems. There are no effective treatments currently available for SGS, so it is wonderful news that SGS is now receiving such commitment from the scientific community. Our patient advocacy group and our international SGS community will now have the unique opportunity to collaborate closely with these world class scientists to help them to develop new treatments for rare epilepsies.”

Dr Carl Ernst PhD, from The Douglas Research Centre, McGill University, Montreal said “We could not be happier to partner and collaborate with families affected by SGS to advance treatments for this disease. 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.”

The funding comes from the European Joint Programme on Rare Diseases (EJP RD), co-funded by the European Commission. The ‘TREAT-SGS’ project was selected from 173 eligible proposals and will receive 1.6 million Euros. The focus of the ‘TREAT-SGS’ project is the development and preclinical testing in human cell models and transgenic mice of novel treatments for Schinzel-Giedion Syndrome. It. The project is a collaboration between the UK based patient group The Schinzel-Giedion Syndrome Foundation and academic researchers in Canada, Italy, Sweden and Germany, facilitated by Dr Carl Ernst.

Dr Alessandro Sessa PhD, from the Stem Cell and Neurogenesis Unit at IRCCS Ospedale San Raffaele in Milan, who is co-collaborator in the EJP RD project, has also been awarded a grant from the Italian Ministry of Health to explore the molecular basis and pathophysiology of Schinzel-Giedion Syndrome for 450,000 Euros.

Of note, the germline SETBP1 mutations that cause SGS are identical to the somatic SETBP1 mutations found in select myeloid leukaemias which confer a more aggressive leukaemic phenotype and worse prognostic outcome. Importantly, this SGS research may therefore contribute further to our understanding of the role of SETBP1 in oncology and have a direct benefit of advancing rare cancer research.

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

What is Schinzel-Giedion Syndrome?

Schinzel-Giedion Syndrome is an ultra-rare genetic disorder. Fewer 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 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 severe uncontrollable seizures, which are often the reason why many will die before their 4th birthday.

About The Schinzel-Giedion Syndrome Foundation

The Schinzel-Giedion Syndrome Foundation is a registered UK charity (Number 1186327), established in 2019 by an international group of parents of children with Schinzel-Giedion Syndrome (SGS). The charity is supported by a Scientific and Medical Advisory Board (SMAB), including researchers at renowned institutions, medical geneticists, paediatric clinicians and industry-level therapeutic developers. The Schinzel-Giedion Syndrome Foundation is the only SGS patient group and serves to represent the international SGS community.

About The European Joint Programme on Rare Diseases (EJP RD)

The European Joint Programme on Rare Diseases (EJP RD) brings together over 130 institutions from 35 countries to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation.

Contact The Schinzel-Giedion Syndrome Foundation

Nuala Summerfield, Founder and Chair
Tel: +44 (0)7957 168815

Contact Dr Alessandro Sessa, PhD

Division of Neuroscience Stem Cells & Neurogenesis Unit
San Raffaele Scientific Institute
via Olgettina 58
20132 Milan, Italy
Lab ph. +39 02 26434612
Office ph. +39 02 26435790
Fax: +39 02 26436585
Email: or

Contact Dr Carl Ernst, PhD

Douglas Research Centre
Department of Psychiatry, McGill University
6875 Boulevard LaSalle
Montréal, QC
H4H 1R3
Ph: (514) 761-6131 x3382
Fax: (514) 762-3023

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