Further research, information and support
For more information and support on intellectual disability and genetic conditions please see the below websites for charities and support groups:
If you would like your organisation to be added to this list please contact us
IMAGINE ID is not responsible for the content of these external internet sites
- General genetics and intellectual
disability support groups - Specific genetic
condition support groups - Other genetics and intellectual
disability research
General genetics and intellectual disability support groups:
Unique charity provides support for individuals with rare chromosome or rare genomic disorders and their families. We recommend their disorder-specific information guides, which are family-friendly and medically-verified.
The Genetic Disorders UK charity is a source of information and support for both those affected by a genetic disorder, and the charities and patient groups that support them.
Genetic Alliance UK is the national charity working to improve the lives of patients and families affected by all types of genetic conditions. They are an alliance of over 180 patient organisations.
SWAN UK (Syndromes Without A Name) is a support network run by the charity Genetic Alliance UK offering support and information to families of children and young adults with undiagnosed genetic conditions in the UK.
Rare Revolution Magazine Giving RARE a voice. Rare Revolution Magazine is dedicated to providing exceptional articles of interest to the rare disease community. They provide a platform to the patient groups and charities that support over 7,000 different rare conditions. This free subscription digital magazine means international access to all. Be part of the #rarerevolution.
The FIND Resources website summarises findings from research studies into genetic syndromes.
Contact a Family is a national charity for families with disabled children. They provide information, advice and support.
The Challenging Behaviour Foundation charity supports people with severe learning disabilities whose behaviour challenges.
Mencap works with people with a learning disability to change laws, challenge prejudice and support them to live their lives as they choose.
GenomeConnect a patient portal, or registry, that is working to build the knowledge base about genetics and health, that will allow researchers and doctors to study the impact of genetic variation on health conditions.
Child Growth Foundation, UK charity focusing on growth (including developmental delay) and endocrine problems.
CLIMB- Children Living with Inherited Metabolic Diseases organisation for Inherited Metabolic Diseases supports patients worldwide with over 700 Inherited Metabolic Diseases.
FindaCure is a UK charity that is building the rare diseases community to drive research and develop treatments.
Kids charity supporting over 8,000 disabled children, young people and their families every year by delivering around 125 services across England.
Rare Connect partners with the world’s leading rare disease patient groups to offer global online communities; allowing people to connect around issues which affect them while living with a rare disease.
Specific genetic condition support groups:
The Cerebra charity provides health and social care information for children with neurological conditions. Their guides for parents section contains booklets on a variety of topics ranging from Educational Health Care Plans to transitioning to adult services.
Prader-Willi Syndrome Association UK a national charity supporting families affected and healthcare professionals supporting families with Prader-Willi syndrome.
MECP2 gene duplication syndrome, France a French charity supported families affected with duplications of the MecP2 gene located at Chromosome Xq28.
Bridge the Gap-SYNGAP Education and Research Foundation a global charity to serve, educate and fund research for families coping with the effects of SYNGAP mutations, located at Chromosome 6p21.3.
SYNGAP Research Fund is a 501(c)(3) public charity incorporated in 2018. The mission is to improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies and support systems.
Catalan Association of 22q11 syndrome / DiGeorge / VCFS a support group based in Catalan for families affected by DiGeorge Syndrome.
Cornelia de Lange Syndrome Awareness group aims to spread awareness of Cornelia de Lange Syndrome, while also providing support to families affected by the genetic disorder.
Cri du Chat (chromosome 5p deletion syndrome) patient group supporting people with Cri du Chat Syndrome and their families.
Fragile X Society a charity that provides information and practical guidance to support and empower individuals and families living with fragile X, and the professionals who support them.
Kleefstra Syndrome support group for a growing community of families and medical professionals from around the world who seek a better understanding of this complex genetic condition.
Angelman Syndrome Support Education & Research Trust (ASSERT) A UK based charity whose aims are to support, educate and research Angelman Syndrome.
Max Appeal! Supporting families affected by DiGeorge Syndrome, VCFS and 22q11.2 deletion
Other genetics and intellectual disability research:
DDD study is to advance clinical genetic practice for children with developmental disorders by the systematic application of the latest microarray and sequencing methods while addressing the new ethical challenges raised.
Decipher is used by the clinical community to share and compare phenotypic and genotypic data. The DECIPHER database contains data from 21521 patients who have given consent for broad data-sharing. Anyone can browse publicly-available patient data on DECIPHER and request to be put in contact with the responsible clinician.
ECHO study, Cardiff University, the project is interested in assessing the behaviour and psychological and intellectual functioning of children and adults who have been diagnosed with these syndromes who are aged over 6 years of age. http://medicine.cardiff.ac.uk/psychological-medicine-neuroscience/areas-research/copy-number-variant-research/research-projects/
Chromosome 18 Registry and Research Society Europe
Affiliated to the Chromosome18 Registry and Research Society based in San Antonio, Texas. They aim to bring the latest research done by the Chromosome 18 Registry and Research Society in Texas to people affected by all chromosome 18 disorders and their families in Europe.
GenIDA online research project;
Genetically determined
Intellectual Disabilities and Autism Spectrum Disorders https://genida.unistra.fr
Simons VIP Connect
The Simons Variation in Individuals Project (Simons VIP) is a
family support resource. Initially focusing on deletions and duplications of 16p11.2 and 1q21.1, the community has now expanded to include any genes that have been associated with features of
autism and developmental delay.
Chromosome 6 research project
a research group collecting data about chromosome 6 deletions and duplications from patients worldwide.
NIHR BioResource Rare Diseases
The aim is to drive identification of disease cause, improve rate of diagnosis and to enable studies to develop and validate treatments; thus improving care for those with rare disease and their families
https://bioresource.nihr.ac.uk/about-us/about-the-bioresource
The 100,000 Genomes Project
The project will sequence 100,000 genomes from around 70,000 people. Participants are NHS patients with a rare disease, plus their families, and patients with cancer. The aim is to create a new genomic medicine service for the NHS – transforming the way people are cared for.
https://www.genomicsengland.co.uk/the-100000-genomes-project
