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Schinzel-Giedion Syndrome Foundation

Schinzel-Giedion Syndrome Foundation

Providing support for families caring for a child with Schinzel-Giedion Syndrome.

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Foundation Organizes First Virtual SGS Family Conference

SGS Family Conference August 12-14th 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

Want to learn more?

Download the CVI resources provided by Chris Russell that he mentions in his talk.

CVI Fact Sheet
CVI OBSERVATION NOTES

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

Want to get involved?

If you are a parent or caregiver of a child with SGS, email us to sign up to participate in the SGS Disease Concept Study!

Email Us

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

Want to get involved?

Sign up to join the SGS Patient Registry or email us to arrange a 1:1 Zoom walk through.

Email Us

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

Save the Date!

The International Schinzel-Giedion Syndrome Awareness Day is on November 13th 2022. We hope you’ll join us to celebrate our special children, raise awareness of SGS and fundraise  to support the work of The SGS Foundation. We’ll be sharing details on social media very soon!

Read more about our fantastic Speakers here.

Dana Bradley

Dana Bradley


My husband Richard and I are parents to our son, Alex.  We live in New York City.  Until recently I worked in Human Resources at JPMorgan Chase, a leading financial services firm.  After a 25-year career in the fast-paced New York finance industry, I decided I wanted to use my skills as a leader, communicator, and problem solver for a different cause.
 
I have a BA in Psychology and an MBA in Industrial Organizational Psychology.  During my career at JPM, I worked in several lines of business and served as a global talent and organizational development manager, employee experience manager and HR Business Partner.
 
My interest in rare disease was piqued by my personal experience at an early age with members of my own family.  The difficulties we had in obtaining an accurate diagnosis for my mother’s Lupus meant that I spent many hours reviewing biomedical research publications.  And my childhood summers included living with my aunt who has Down Syndrome.  During those vacations I saw first-hand the impact such a condition can have on daily life.  So, from an early age I developed a deep empathy for those suffering with a chronic condition.
 
I have a desire to learn about Schinzel-Giedion Syndrome and to advocate for SGS children and their families.  I have a toolkit of skills from my career in HR that I believe will equip me well for my role as Trustee of the SGS Foundation. I am really looking forward to getting to know the SGS children and their families better.

Contact Dana

Board of Trustees

Our Board of Trustees
Our Board of Trustees

Our Trustees are all parents of children with Schinzel-Giedion Syndrome. We are all volunteers, passionately driven to raise awareness and improve the lives of children born with this rare genetic disorder.

Title
Nuala Summerfield

Founder and Chair of Trustees

My Story
Leina Zhang
Emma Hudson

Secretary

My Story
Carina Rudolfsson
Carina Rudolfsson

Social Media

My Story
 Charla Andersen  
Charla Andersen  

Fundraising

My Story
Dana Bradley
Dana Bradley
My Story

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The Schinzel-Giedion Syndrome Foundation is Appointing New 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

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SETBP1 Research

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.

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Dr. Jessica Duis, M.D.

Dr. Jessica Duis, M.D.

Dr Jessica Duis is a pediatric geneticist and special care pediatrician at Children’s Hospital Colorado. She did her training at Johns Hopkins in Baltimore, MD, where she focused her work on epigenetic disorders. She has built multidisciplinary Centers of Excellence across the United States with a focus on patient care, establishing standards of care, translational research, clinical trial design, and outcome measures. She is an expert of Angelman, Duplication 15q, and Prader-Willi syndromes and has published guidelines on their management. Her research has included investigator-driven clinical trials and translational outcome measure design both in the lab and in the natural environment.

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Scientific and Medical Advisory Board

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.

Title
Matthew Burkhardt

Chair of Scientific and Medical Advisory Board | Preclinical Target Discovery

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Leina Zhang
Dr Rocío Acuña Hidalgo

Molecular Genetics

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Title
Dr Bregje van Bon

Clinical Genetics

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Dr Hans Bjornsson
Dr Hans Bjornsson

Human Genetics and Epigenetics

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Dr Jessica Duis
Dr Jessica Duis

Pediatric Geneticist and Special Care Pediatrician

Read More

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The SGS Foundation is a Member of COMBINEDBrain

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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