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Nuala’s Story
Schinzel-Giedion Syndrome Awarded € 2 000 000
Research grant of over 2 Million Euros ($2.5Million) offers new hope for children with rare condition Schinzel-Giedion Syndrome
Contact:
Nuala Summerfield
Mob: +44 (0)7957 168815
Email: nuala@sgsfoundation.org
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.
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. 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
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: sessa.alessandro@hsr.it or ale.sessa81@tin.it
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
Email: carl.ernst@mcgill.ca
Hashtags to use if sharing this article:
#schinzelgiedionsyndrome
#sgsfoundation
#raredisease
#rareepilepsy
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International SGS Awareness Day
International Schinzel-Giedion Syndrome Awareness Day 13 November 2020
By Emma Hudson, Secretary and Trustee of The Schinzel-Giedion Syndrome Foundation and mum to 2-year-old Jude who has SGS
Happy Birthday to Us!
13 November 2020 marked one year since the The Schinzel-Giedion Syndrome Foundation was registered as an official charitable organisation with the Charity Commission in the United Kingdom. Our Foundation was created to represent children living with SGS and their families all over the world. One of our missions is to raise awareness of SGS as a rare disease. This mission led us to establish the very first International SGS Awareness Day. What better way to celebrate our Foundation’s birthday?!
13 Days of Awareness
From November 1st, every day for 13 days in the run-up to our Awareness Day, we shared social media posts on Facebook, Instagram and Twitter featuring stories of children with SGS, important information about the condition and photographs of our SGS children and their families. The aim was for these posts to be shared far and wide so the world could learn about SGS and the way it affects our children’s quality of life. The international SGS community took the Awareness Day campaign to heart and shared our posts with not just family and friends but also medical professionals, researchers and other patient organisations.
Purple and Proud
We asked our families to share photographs of their children wearing purple to show their support for the SGS Awareness Day. There was a selection of heart-warming photos shared widely on Facebook and Instagram with the #sgsawarenessday and #schinzelgiedionsyndrome. The purple theme was strong throughout, with our children’s classmates and teachers wearing purple in support of SGS, as well as purple-themed painting and sensory play sessions and delicious purple SGS cakes!
SGS Photobombs Explode!
A very special part of the SGS Awareness Day was the creation of the eye-catching digital photo frames which featured children from all over the world who are part of our international SGS community. The photo frames were designed to be posted and shared on Facebook and Instagram by our families. The highlight was a beautiful short film created from all of the framed photos, which can be viewed here. A special thank you to Franco Grech, graphic designer, who created these digital frames and film as part of the pro-bono work he does for the Foundation. They really made an enormous impact and helped to make our Awareness Day so memorable.
Fundraising Success!
Another of our missions is to facilitate and support medical research that will help us find better treatments to improve the quality and length of life of children living with SGS. To do this we need to raise funds to support vital medical research.
A very important part of the SGS Awareness Day campaign was the fundraising that occurred within the SGS community. The call to arms was heard by our community and generous donations were received from across the globe.
This is a huge achievement for our very first fundraising campaign and we would like to thank everyone for their amazing generosity. We will soon share further information about the research projects that these funds will be supporting and the impact this research will have for our children.
Date for your diary: International SGS Awareness Day 2021 will be on Saturday 13 November 2021.
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Recurrence Risk
This information has been written for our website by Dr. Rocío Acuña Hidalgo, MD PhD Molecular Geneticist and Member of our Scientific and Medical Advisory Board
What is our risk of having another child with Schinzel-Giedion Syndrome?
One of the most important questions for couples with a child diagnosed with Schinzel-Giedion Syndrome is to understand what is their risk of having another child with the same disease. This is known as “recurrence risk”.
Parents who have a child with Schinzel-Giedion Syndrome are typically counselled that their recurrence risk is very low, with the risk of having another child with the same disorder at less than 1 in 100.
Schinzel-Giedion Syndrome is always caused by new mutations in the SETBP1 gene
Genetic tests for Schinzel-Giedion Syndrome (SGS) will usually find the disease-causing mutation in the blood or saliva of the child with SGS but not in the blood or saliva of the parents. This is because the genetic mutation that causes SGS is not in the cells of the parents’ body, but appears for the first time either in the father’s sperm cell or in the mother’s egg cell. During fertilization of an egg by a sperm cell, if either the sperm or the egg cell has the mutation that causes SGS, the baby will have the genetic mutation and will be born with SGS.
Because the disease-causing mutation appeared for the first time in the father’s sperm cell or mother’s egg cell by chance, it is very unlikely that the mutation appears a second time by chance. This is why couples with a child who has SGS are counseled that the risk of recurrence is very low. Additionally, other members of the family (such as parents, siblings or other children of the couple with a child with SGS) do not have additional risk of having a child with SGS.
Recurrence risk and mosaicism for the mutation that causes SGS
In very rare cases, couples have been reported to have more than one child born with SGS. This can be a source of concern for parents who have a child with SGS and are thinking about having more children.
Couples who have more than one child with SGS have germline or gonadal mosaicism for the mutation that causes SGS. Germline or gonadal mosaicism means that the genetic mutation that causes SGS appeared in more than one sperm cell in the father or more than one egg cell in the mother. Couples who have germline or gonadal mosaicism, have a higher risk of recurrence; the genetic mutation that causes SGS can still be found in one of the sperm or egg cells of the parents, which could lead to a second child being born with SGS. The risk of recurrence depends on the degree of germline mosaicism (i.e. how many sperm or egg cells there are with the genetic mutation). In even rarer cases, the genetic mutation can also be found in blood of the parents, even if the parent has no signs or symptoms of SGS. This is known as “gonosomal mosaicism” and recent research suggests that for these couples, the risk of recurrence is also higher.
Please note: this example above uses the father for illustration purposes only, but it could equally be the mother who had a de novo mutation in a single egg cell, who has germline mosaicism or who has gonosomal mosaicism, resulting in a child with SGS.
Summary
The recurrence risk for most couples with a child diagnosed with SGS is very low (<1%). Couples with a child diagnosed with SGS and who would wish to have more children but are concerned about their risk of recurrence should discuss their options with a genetic counselor (e.g. early prenatal diagnosis).
On rare occasions, couples may have germline or gonosomal mosaicism for the mutation that causes SGS, which increases their recurrence risk. Unfortunately, currently there is no way to know whether a couple has germline mosaicism. However, couples can be tested for gonosomal mosaicism by trying to detect the disease-causing mutation in the blood of the parents. If the disease-causing mutation is found in the parents’ blood, the risk of recurrence is higher.
Note:
Detection of parental gonosomal mosaicism needs to be carried out with Next Generation Sequencing and not with Sanger Sequencing (please refer to Rahbari et al. Timing, rates and spectra of human germline mutation, Nature Genetics 48, 126–133(2016)
URL: http://dx.doi.org/10.1038/ng.3469 or https://core.ac.uk/download/pdf/30665023.pdf).
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Dr. Hans Bjornsson, M.D., Ph.D.
Dr. Hans Bjornsson, M.D., Ph.D.
Dr. Bjornsson did his graduate work under the supervision of Andrew P. Feinberg, a leader in the field of epigenetics. He then joined the combined program in pediatrics and human genetics at Johns Hopkins. During his residency training, Dr. Bjornsson worked with Dr. Hal Dietz, a leader in the field of developing therapeutic options for patients with Mendelian disorders. In 2012, Dr. Bjornsson became an Assistant Professor of Pediatrics and Genetics at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins. He has received multiple awards while at Johns Hopkins for research and clinical care. Dr. Bjornsson founded the Epigenetic and Chromatin Clinic in 2012, which is dedicated to the care of patients with epigenetic disorders and disorders of epigenetic machinery. He currently is Associate Professor of Genetics at Johns Hopkins University and Professor of Translational Medicine and Pediatrics at the University of Iceland.
Scientific and Medical Advisory Board
Our Scientific and Medical Advisory Board
We are very fortunate to have such a knowledgeable and well-respected team of scientists and medical doctors on our Advisory Board. Each of them shares our commitment to advancing the understanding of Schinzel-Giedion Syndrome and improving the lives of children born with this rare genetic disorder.
Matthew Burkhardt
Chair of Scientific and Medical Advisory Board | Preclinical Target Discovery
Dr Rocío Acuña Hidalgo
Molecular Genetics
Dr Bregje van Bon
Clinical Genetics
Dr Leena Mewasingh
Pediatric Neurology
Dr Hans Bjornsson
Human Genetics and Epigenetics
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Dr. Rocío Acuña Hidalgo, Ph.D.
Dr. Rocío Acuña Hidalgo, M.D., Ph.D.
Rocío Acuña Hidalgo, Ph.D. is a medical doctor and human geneticist based in Berlin, Germany. Her expertise lies in bringing together Next Generation Sequencing (such as exome sequencing) and molecular biology to unravel the molecular mechanisms of mutations that lead to human disease. Rocío completed her Ph.D. at Radboud University Medical Center, where she studied the molecular effects of SETBP1 mutations in Schinzel-Giedion syndrome using a combination of in silico and in vitro models. She did postdoctoral research at the Max Planck Institute for Molecular Genetics in Berlin, working on novel technologies to improve the diagnosis of patients with genetic disorders. She then co-founded Nostos Genomics, a company combining software and molecular biology approaches to improve the diagnosis of patients with genetic diseases. She currently serves as the Chief Technological Officer at Nostos Genomics.
Scientific and Medical Advisory Board
Our Scientific and Medical Advisory Board
We are very fortunate to have such a knowledgeable and well-respected team of scientists and medical doctors on our Advisory Board. Each of them shares our commitment to advancing the understanding of Schinzel-Giedion Syndrome and improving the lives of children born with this rare genetic disorder.
Matthew Burkhardt
Chair of Scientific and Medical Advisory Board | Preclinical Target Discovery
Dr Rocío Acuña Hidalgo
Molecular Genetics
Dr Bregje van Bon
Clinical Genetics
Dr Leena Mewasingh
Pediatric Neurology
Dr Hans Bjornsson
Human Genetics and Epigenetics
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