RESEARCH Opportunities
All the opportunities presented on this page refer to international research projects and are not limited to families of a specific country
Simons Searchlight is a research project that aims to study rare gene changes that are associated neurodevelopmental disorders. Participants can:
Learn about their family member’s diagnosis
Partner with some of the best minds in science
Get updates on the latest research findings
Connect with others who share their diagnosis
Contribute to advancements that will change the future for families with these gene changes
Learn more at Simons Searchlight - Frequently Asked Questions.
For the participation in the project, join Simons Searchlight at www.simonssearchlight.org
Currently, Simons Searchlight is available in the following languages:
English
Dutch
French
Spanish
The GenIDA project is a participatory international research project on forms of intellectual disability, autism and epilepsy of genetic origin, initiated by Prof. Mandel of the University of Strasbourg, France (he recently received the prestigious Kavli Prize for his work in neuroscience: https://www.kavliprize.org/prizes/neuroscience/2022).
This project aims to collect longitudinal health information from the families concerned who answer a questionnaire on the various manifestations (medical, behavioural, etc.) of the disease in the affected person and on its natural history (evolution at different ages). The clinical questionnaire consists mainly multiple-choice questions, and is currently available in 7 languages (English, Dutch, French, German, Italian, Portuguese, Spanish).
The protocol, consent form and data security policy have been approved by the INSERM bioethics committee (INSERM is the French equivalent of the NIH in the United States, or the Medical Research council/MRC in the United Kingdom).
As soon as there is a sufficient number of participants sharing the same genetic disease who have responded to the questionnaire, we make the results of our anonymised analyses available to doctors, researchers and other professionals involved in the management of this disease. The results will also be made available in a summarised form to the associations and Facebook groups concerned, and to the families who responded to the questionnaire.
The collected data can be used by health professional to generate new and medically significant knowledge that can be translated into improved patient management (scientific publications, recommendations / guidelines, etc.); to submit additional specific questions to subsets of patients; and to recruit patients for ethically approved research projects or clinical studies (subject to approval by GenIDA's Scientific Advisory Board).
The greater the number of participating families, the more we will be able to bring out new information of medical interest, enabling better care for people with the disease.
To participate: https://genida.unistra.fr/
For more information: genida@igbmc.fr
Facebook: https://www.facebook.com/GenIDAproject/
Youtube: https://www.youtube.com/channel/UCHR_4upMiE33Q4tcxp6kJ_Q?view_as=subscriber
From families of people, aged 3 and above
BINGO is a research study involving researchers from the MRC Cognition and Brain Sciences Unit (CBU) at the University of Cambridge, and the University of Oxford.
This study brings together developments in genetics, psychology and brain sciences, to find out how specific gene differences affect individuals with ID. They want to find out much more about how the brain develops and functions differently in individuals with ID, where a possible genetic cause has been found. They are also interested in creating new assessment methods, which are suitable for people with ID. In the future, the information we gather might make it easier to support people with ID, because we will have a better understanding of which specific patterns of difficulty are associated with each cause.
For more information, please visit www.mrc-cbu.cam.ac.uk/bingo or send an email to bingo@mrc-cbu.cam.ac.uk