Our Partners

Learn more about the organisations that The Schinzel-Giedion Syndrome Foundation collaborates with.

In this photo: Ophelia


COMBINEDBrain is a consortium led by patient advocacy foundations, working with the clinicians, researchers and pharmaceutical firms that are developing treatments for the disorders they represent.

The Schinzel-Giedion Syndrome Foundation is very pleased to be part of this consortium, representing patients with rare genetic neurodevelopmental disorders.

SETBP1 Society

SETBP1 Society represents individuals with SETBP1 Disorder, a neurodevelopmental disorder caused by loss of function mutations of the SETBP1 gene.

Schinzel-Giedion Syndrome is caused by mutations of the same SETBP1 gene, but the type of mutation is different as SGS causes gain of function mutations.

We are pleased to work closely with SETBP1 Society to represent all individuals born with SETBP1 mutations.

Rare Epilepsy Network

The Rare Epilepsy Network (REN) is a partnership between rare epilepsy organizations, the Epilepsy Foundation, Columbia University, and Research Triangle International to conduct research to improve outcomes of rare conditions associated with epilepsy and seizures.

The Schinzel-Giedion Syndrome Foundation is very pleased to work closely with REN.


EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of 929 rare disease patient organisations from 72 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe.

The Schinzel-Giedion Syndrome Foundation is very pleased to be a member of Eurordis.

Genetic Alliance UK

Genetic Alliance UK is the UK national charity working to improve the lives of patients and families affected by all types of genetic conditions. We are an alliance of over 200 patient organisations. We are home to Rare Disease UK – the national campaign for people with rare diseases and all who support them – and SWAN UK (syndromes without a name), the only dedicated support network available for families of children and young adults with undiagnosed genetic conditions in the UK.

Our aim is to ensure that high quality services, information and support are provided to all who need them. We actively support research and innovation across the field of genetic medicine. Registered charity numbers: 1114195 and SC039299. Registered company number: 05772999.

The Schinzel-Giedion Syndrome Foundation is very pleased to be a member of Genetic Alliance.

Rare Revolution Magazine

Rare Revolution Magazine is a first of its kind, digital magazine giving a voice to those affected by RARE conditions and the charities that represent and support them. The Schinzel-Giedion Syndrome Foundation is very pleased to be a charity partner and a RARE revolutionary.

The Orphan Disease Center’s JumpStart Program

The Orphan Disease Center’s JumpStart program serves to establish and progress research agendas in emerging and neglected rare diseases. The JumpStart program works closely with patient groups and foundations, pharma and biotech, and the academic community to drive therapeutic development for rare diseases. The Orphan Disease Center is part of the University of Pennsylvania’s School of Medicine.

DEE-P Connections

DEE-P Connections is working to enhance support for families of children with severe Developmental & Epileptic Encephalopathies (DEEs).

We work to:
Offer periodic webinars on issues specifically relevant to severe DEEs.
Provide a consolidated online resource center to include recorded webinars and the best available materials on issues relevant to severe DEEs.
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