SGS Family Conference August 12-14^th 2022

If you didn’t make our Family Conference, you can catch up on all the video recordings below or on our YouTube channel.

To watch these talks with translated sub-titles in your own language, please watch this video for instructions on how to turn on auto-translations in YouTube.

DAY 1

Welcome remarks and introduction to The SGS Foundation – SGS Foundation Trustees

Expanding the ORCA Study – learn how YOU can get involved in this exciting research study to help us better understand communication in children with SGS – Dr Christy Zigler, PhD, Assistant Professor in Population Health Sciences, Duke University

Understanding Cortical Visual Impairment (CVI) – Chris Russell, Teacher of the Visually Impaired (TVI), New York Deaf-Blind Collaborative

Wrap up and meeting close – SGS Foundation Trustees

DAY 2

Welcome remarks – SGS Foundation Trustees

Understanding Schinzel-Giedion Syndrome: from the genetics to the clinical symptoms – Dr Jessica Duis MD , Pediatric Geneticist and Special Care Pediatrician, Children’s Hospital Colorado

SGS Disease Concept Study – learn how YOU can get involved in this exciting research to understand which symptoms of SGS are most important to you and your child! – Anna Fangmeier, Master of Genetics Counselling student, Vanderbilt University

Wrap up and meeting close – SGS Foundation Trustees

DAY 3

Welcome remarks – SGS Foundation Trustees

Learn how collecting health information about our children in the SGS patient registry will help us to work towards developing new life-changing treatments for SGS – Dr Terry Jo Bichell PhD, Founder and Chair of COMBINEDBrain

Update on the SGS Patient Registry: watch a live walk-through of the SGS Patient Registry on the Matrix platform and learn how to sign up for a 1:1 session where we can walk you through the registry enrolment and consenting process to get YOU started! – Nuala Summerfield, SGS Foundation

What’s next? An update on the Foundation’s strategic plan for the next 12 months and beyond for research, raising awareness and supporting families – Emma Hudson and Nuala Summerfield, SGS Foundation

Wrap up and meeting close – SGS Foundation Trustees

The Schinzel-Giedion Syndrome Foundation is Appointing New Trustees

The mission of The Schinzel-Giedion Syndrome Foundation is to provide support to families caring for a child with Schinzel-Giedion Syndrome (SGS), to raise awareness of this very rare genetic condition and to facilitate and support the vital medical research that will help us find better treatments to improve the quality and length of life of children living with SGS.

The Schinzel-Giedion Syndrome Foundation is a registered UK charity (Registered Charity Number 1186327) established in 2019 by an international group of parents of children with SGS. We represent children with SGS and their families living all around the world.

We are a small but growing voluntary organisation with ambitious plans for the future. Our vision is for a future when all children with SGS will receive a rapid genetic diagnosis and have access to effective medical and gene therapies to ensure they live longer, healthier and happier lives.

To help us grow and develop we now need additional volunteer Trustees to join us.

Trustees do not need to be the parent or carer of a child of SGS, but an interest in rare genetic disease and the desire to learn about the condition to enable you to advocate effectively for our children is essential.

Whether you are an experienced Trustee or would like to take your first step at Board level, we want to hear from you! We welcome applications from all ages, nationalities and backgrounds. Proficiency in spoken and written English is necessary as Board meetings are conducted in English.

Our trustees could come from any background, but we have specific gaps in the following areas:

• Accounting
• Fundraising
• Press and PR
• Digital
• Healthcare and Policy

As a Trustee you must be prepared to take an active and ‘hands on’ part in the running of the Foundation, which will involve working on specific allocated responsibilities. An expected time commitment would be 2-4 hours per week flexibly delivered around your other commitments. Trustees Board meetings are held virtually on Zoom up to 6 times per year, so location isn’t a barrier, and each meeting may last up to 2 hours.  The duration of the Trustee position is an initial 2 years, which can be extended to 4 years.

If you would like to join us and help to make a difference to the lives of children and their families living with rare genetic neurodevelopmental disorders like SGS, please contact Nuala Summerfield, Chair of The Schinzel-Giedion Syndrome Foundation on nuala@sgsfoundation.org for an informal chat and to find out more.

You can also find out more about Schinzel-Giedion Syndrome and the Foundation on our website www.sgsfoundation.org

Newswise — HUNTSVILLE, Ala. (Jan. 18, 2022) – Research at the Baudry Lab at The University of Alabama in Huntsville (UAH) to model how the SETBP1 protein interacts with other DNA to regulate a cell has attracted one of 40 global $46,000 seed grants from the Million-Dollar Bike Ride program at the University of Pennsylvania Health System.

The Schinzel-Giedion Syndrome Foundation is a member of COMBINEDBrain

In January 2020 The Schinzel-Giedion Syndrome Foundation joined COMBINEDBrain, a non-profit consortium of 25 patient-advocacy groups, each representing a different rare genetic neurodevelopmental disorder. COMBINEDBrain’s mission is to speed clinical trial readiness for severe cognitive disorders by pooling resources and working together across all of our member disorders. 

The Schinzel-Giedion Syndrome (SGS) Foundation is represented by Nuala Summerfield, Founder and Chair. The organisation’s mission is to provide support to families caring for a child with SGS, to raise awareness of SGS and to facilitate and support medical research that will help find better treatments to improve the quality and length of life of children living with SGS. The Schinzel-Giedion Syndrome Foundation is a volunteer, parent-led organisation and represents the international SGS community.

We are excited and honoured to be a member of COMBINEDBrain and to have the opportunity to work alongside so many other like-minded organisations, all focused on treating and curing ultra-rare neurodevelopmental disorders. Through this collaboration, we are able to share ideas, resources and contacts. We learn from and inspire each other and work together to find strategic partnerships. Most importantly, our membership in COMBINEDBrain helps spread much-needed awareness about Schinzel-Giedion Syndrome (SGS) and SETBP1 mutations and gives us access to biopharma companies that can help us achieve our goal of finding targeted treatments for children with SGS.

COMBINEDBrain was founded by Dr. Terry Jo Bichell, whose adult son has Angelman Syndrome. In 2009, Terry Jo decided to go back to school, earning her PhD in neuroscience in order to work towards finding a cure for her son. She created COMBINEDBrain in 2019 to share her experience with the next wave of rare diseases. She’s a force to be reckoned with in the rare disease community, and we are so grateful to have her as a mentor and friend.

The other members of CB that we are in collaboration with (in reverse alphabetical order) are:

Yellow Brick Road Project (HNRNPH2) is represented by Trish Flanagan, President. The YBRP connects families and drives research forward into HNRNPH2 mutations to improve these rare patients’ lives. This is a small but fiesty organization who are laser focused on getting to clinical trials, treatments and a cure for the rare X-linked HNRNPH2 related neurro-developmental disorder.          

SynGAP Research Fund (SRF) is represented by Mike Graglia, Managing Director & co-founder. SRF’s mission is to support the research and development of treatments, therapies and support systems for SynGAP1 patients worldwide. SRF is entirely parent led and has committed over $1.2M to research since it was created, 100% of donations go directly to support research.

STXBP1 Foundation is represented by Charlene Son Rigby, President. The STXBP1 Foundation’s mission is to raise awareness of STXBP1 disorders, and to accelerate the development of therapies and hopefully a cure for our patients.

SLC6A1 Connect is represented by Amber Freed, CEO & Co-Founder. The mission of SLC6A1 Connect is to cure every person with SLC6A1.

SETBP1 Society is represented by Haley Oyler, President.  Their mission is to provide support to individuals with SETBP1 disorder and their families, to promote discussion and fund research, and to bring awareness and education to the public.  SETBP1 Society is an internationally-focused volunteer 501(c)(3) organization based in the US with a focus to identify targeted treatments to help individuals impacted by SETBP1 disorder.

SATB2 Gene Foundation is represented by Allison Kaczenski, President & Founder. The SATB2 Gene Foundation was established to enrich the lives of individuals with SATB2-associated syndrome, including those diagnosed with the condition and their families, through support, research and education.

Project 8p Foundation is led by Bina Maniar Shah, President & Founder. Project 8p Foundation is a 501(c)(3) non profit organization established to accelerate the discovery of treatments for chromosome 8p disorders with a translational research program and a standard of care to empower meaningful lives in a unified community today. Chromosome 8p is not just a rare genetic disease, but the many genes and pathways can be clues to common brain-related diseases.

Project Alive is represented by Kim Stephens, DBA, President  Their mission is to find and fund a cure for Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II) through research and advocacy. Project Alive is a powerful voice for children and adults with Hunter Syndrome, bringing together families and advocates with researchers, industry, and regulators.

PBD Project is represented by  Andrew Longenecker, Founder.  Their mission is to PBD Project is to fund medical research with the objective to provide meaningful positive clinical impact for patients with Peroxisome Biogenesis Disorders (PBD), with a focus on Zellweger Spectrum Disorder (ZSD) caused by mutations to PEX10 gene.

NR2F1 Foundation is represented by Carlie Monnier, Board President. The mission of the NR2F1 Foundation is to empower families and individuals living with rare NR2F1 mutations through education, awareness and research. As a result of joining forces with other foundations, we aim to be leaders in patient empowerment and patient-led research for the rare disease community at large ultimately serving as a model to other organizations.

Malan Syndrome Foundation is represented by Dr. Christal Delagrammatikas. The mission of the Malan Syndrome Foundation is to improve the lives of individuals and families affected by Malan syndrome in the global community through support, outreach and research. The Malan Syndrome Foundation is a volunteer, parent-led organization.

KIF1A.ORG is represented by Kathryn Atchely, President. KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder and accelerating research to find a cure. Our relentless community of families, researchers, clinicians, innovators and supporters are determined to bring treatment to this generation of people affected by KAND.

GRIN2B Foundation is represented by Liz Marfia Ash, President & Founder. GRIN2B Foundation is a parent-run organization dedicated to furthering research on the GRIN2B gene and providing support and education to the small, but growing community of individuals and families impacted by a GRIN2B diagnosis. Though GRIN2B Foundation was the first GRIN2B-related organization formed, we are very proud to work in collaboration with many other GRIN2B and GRIN Disorder organizations that have since formed worldwide. 

Glut1 Deficiency Foundation is represented by Glenna Steele, Executive Director. The Glut1 Deficiency Foundation is a nonprofit patient advocacy organization dedicated to improving lives in the Glut1 Deficiency community through its mission of increased awareness, improved education, advocacy for patients and families, and support and funding for research. We are working hard to bring help and hope to the Glut1 Deficiency community.

FOXG1 Research Foundation is represented by Nasha Fitter, CEO, Head of Research. The mission of the FOXG1 Research Foundation to accelerate research to find a cure for FOXG1 syndrome. We are dedicated to funding the world’s leading scientists that are integral along the Path to a Cure for all children with FOXG1 syndrome. We will continue to apply our research to solve related brain disorders.

Foundation for USP7 Related Diseases is represented by Bo Bigelow, Chairman/Co-Founder. Their mission is to cure Hao-Fountain Syndrome (previously known as USP7-related diseases). We do this by funding research and identifying more patients.  In funding research, we seek to (1) uncover methods of activating USP7 to rescue this haploinsufficient phenotype; and (2) understand how alterations in proper functioning of endosomal protein recycling cause seizures and other neurological problems.

FamilieSCN2A Foundation is represented by Leah Schust Myers, Executive Director. Their vision is to find effective treatments and a cure for SCN2A related disorders.  Their mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy. FamilieSCN2A Foundation was created by parents of children suffering from SCN2A related disorders who work unwaveringly to support both families and research.

CureGPX4 is represented by Sanath Kumar Ramesh, Founder. The organization’s mission is to create treatments to Spondylometaphyseal Dysplasia Sedaghatian type (SSMD).

CureSHANK is represented by  Geraldine Bliss, Founder and President.  Their mission is to accelerate the development of treatments for Phelan-McDermid Syndrome and SHANK-related disorders.  Their approach is to identify and fund projects that overcome critical barriers to successful drug development and to coordinate scientific efforts to improve efficiency and speed in the field. 

CureGRIN is represented by Keith McArthur, CEO and Head of Science.  Their mission is to improve the lives of people living with GRIN Disorder. The foundation is founded and run by parents that are committed to improve the lives of people with GRIN disorder.  

CHAMP1 Research Foundation is represented by Jeff D’Angelo, Founder, Research Committee Chair. Their mission is to improve the lives of those affected by CHAMP1 through clinical research, effective treatments, public awareness, early detection, family support and patient advocacy.

CACNA1A Foundation is represented by Lisa Manaster, President.  Their mission is to increase awareness of CACNA1A variants, support individuals and families affected by CACNA1A, and raise funds to support research and treatment options to find a cure for CACNA1A. 

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Read about Nuala and Ophelia at Rare Disease UK

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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

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#rareepilepsy

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