Nuala Summerfield, Founder and Chair of UK based patient group The Schinzel-Giedion Syndrome Foundation said:
​”As a parent of a child with SGS, I am encouraged and excited that our rare genetic condition is now receiving the attention that it deserves. This grant provides our patient group and our community with the unique opportunity to work closely with scientists to help develop new epilepsy treatments for our children. We also hope that the results of this work can benefit other rare epilepsies.”

Dr Carl Ernst PhD, from 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 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 focus for the 2nd EJP RD Joint Transnational Call for Rare Diseases Research Project (JTC 2020) was pre-clinical research to develop effective therapies for rare diseases.

The TREAT-SGS project was selected from 173 eligible proposals and will receive 1.6 million Euros. The project is a collaboration between the UK based patient group The SGS Foundation and academic researchers in Canada, Italy, Sweden and Germany, facilitated by Dr Carl Ernst PhD.

Dr Alessandro Sessa PhD, a co-collaborator in the EJP RD project, has also been awarded a grant from the Italian Ministry of Health for SGS research of 450,000 Euros.

Identical genetic mutations that cause SGS are also known to trigger cancer including certain types of leukaemia. This SGS research may therefore have a direct benefit of advancing cancer research.

---

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.

Severe 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. https://www.sgsfoundation.org

---

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 https://www.ejprarediseases.org/

---

Contact The Schinzel-Giedion Syndrome Foundation
Nuala Summerfield, Founder and Chair
Tel: +44 (0)7957 168815
nuala@sgsfoundation.org
https://www.sgsfoundation.org

---