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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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July 2023 Was Most Definitely For Jude!

Family and friends of Jude Hudson have raised £10,000 for The Schinzel-Giedion Syndrome (SGS) Foundation in July

Emma Hudson, Secretary of The SGS Foundation and mother to Jude (diagnosed with Schinzel-Giedion Syndrome at 3 months old), writes about her recent fundraising endeavor:

Born in the month of July, in the height of a hot summer, Jude was our second child and a much-loved little brother to Fraser. From before his birth, it was evident that Jude had many symptoms that would eventually add up to a diagnosis of Schinzel-Giedion Syndrome. He suffered from seizures, feeding difficulties, hearing and visual impairments, urinary tract and kidney abnormalities causing significant and recurring urinary tract infections, skeletal abnormalities including talipes (club feet), as well as a host of bowel and respiratory challenges. His care was extremely complex, difficult to co-ordinate and involved numerous medical specialists.

Jude passed away at the age of 3 suddenly and quickly from complications associated with Schinzel-Giedion Syndrome. His short life was painful and difficult at times, but he was always loved and was always shown the utmost care and respect by all those who had the honour of being part of his life.

Having a child with complex care needs is exhausting, emotionally overwhelming, financially difficult and puts a huge strain on your ability to maintain and build relationships with anyone outside of your immediate family.  When we mooted the idea of a fundraising challenge on behalf of Jude for The SGS Foundation, our expectations were that we would manage to raise a few hundred pounds and would be doing most of the running and walking on our own. This could not have been further from the reality.

Tumultuous grey skies and unpredictable weather – a suitable metaphor for our family’s journey

The challenge we settled on was to walk along the northeast coast of England from the gates of Scarborough Castle to the steps of Whitby Abbey – a distance of 21 miles across an undulating landscape, up and down steps and hills, in and out of windswept bays with dramatic rocky cliff looking out across the North Sea with its tumultuous grey skies and unpredictable weather.  It seemed a suitable metaphor for the journey our family has been on over the last few years!

The month of July was chosen to coincide with what was Jude’s 5th birthday. We really wanted to make July all about Jude this year.

A team of 18 family and friends pledged to join us on the walk and the fundraising began in earnest.  Using the Just Giving platform,team members were able to share their own fundraising pages, all linking into the central Team July For Jude.  Fraser and his friends also pledged to join the walk for the final 7 miles – a decent challenge for their little 9 year-old legs!

The weather was initially kind with blue skies and gentle sunshine accompanying us as we set off early in the morning. The mighty Scarborough Castle soon became a diminutive landmark in the distance as we hiked towards Whitby.

We were supported along the way by committed family and friends including Jude’s grandparents who waited at checkpoints with a supplies and one of Jude’s godmother’s who provided a much needed lunchtime energy boost!

Mud caked walking boots and plenty of tears

By the time Fraser, his friends and other team members joined at Robin Hood’s Bay, the threatening thunder had turned into torrential downpours making the rocky path along the coast challenging. There were walking boots and trainers caked in mud with plenty of mud sliding and tears. The uneven path and slippery conditions exacerbated the blisters and made the final stretch of the walk really tough.

At last the towering peaks of Whitby Abbey emerged through the rain and fog and the path’s end came into sight. Every team member completed the walk, with no man, woman or child left behind! A well-earned drink was enjoyed by all at the finishing point of Whitby Abbey Brewery.

In addition to the hub team, a satellite team of 3 ladies walked 21 miles through West Yorkshire, along roads and footpaths, through villages and towns, in the rain and with friends and family cheering them on along the way. Their journey was separate but their purpose was the same – to raise funds for The SGS Foundation, to remember Jude and show support for his family.

During the month of July, several other friends also committed to completing 21 miles at various paces. Again, these team members walked with the purpose of raising sponsorship for The SGS Foundation whilst remembering a special boy.

Team July For Jude 2023 has raised a massive £10,000 for The SGS Foundation.

This total is an amazing achievement for the whole team. The support of our family and friends has been unwavering and we are so grateful for all their efforts. Every blister was worth it!

We hope that the funds raised can be directed towards a project that will have a real impact on the lives of children born with SGS. So little is understood about some aspects of the syndrome. It is down to patient advocacy groups such as The SGS Foundation to get the ball rolling and start to make the medical community more aware of the condition by funding projects. These projects will lead to a better understanding of SGS and to the development of new therapies and medications which can help to make the lives of SGS children longer and more comfortable.

Jude’s legacy of kindness and community has made all of this possible, and we are incredibly grateful.

If you would like to donate to The Schinzel-Giedion Syndrome Foundation, and make a real difference to the lives of children with this rare genetic condition, please click the button below.

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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

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