Scientific Research
Dernière mise à jour 29 août 2021
La Maison 8p and our members are happy to participate voluntarily in several international scientific research projects. These are projects that explore questions and hypotheses directly and/or indirectly related to the genetic disease of invdupdel8p. Here is the current list of ongoing projects. If you would like to bring your story to one of these projects, here are the links to the sites concerned, as well as the contact details of the people in charge of joining the project that interests you.
Table of contents in this topic:
ASDID Asociacion Sindrome DID8pTER
This institute is located in Madrid, Spain and is the institution that conducted a scientific research project on seven (7) people with various invdupdel8p rearrangements, paper published February 2015, available for your reading here: Analysis of Invdupdel( 8p) Rearrangement: Clinical, Cytogenetic and Molecular Characterization.
This project was “commissioned” by the mother of a boy with invdupdel8p in 2014 and she was the one who found other families in Spain to take part in this study. The collection of data from patients with various forms of invdupdel8p changes is still ongoing, in order to expand the database for better research work. You can contact Mrs. Tere Pavón Bautista directly by clicking on her name, or via her Spanish association, Asociacion Sindrome DID8pTER ASDID to find out more about how to join this research project.
Project 8p Research & Patient Registry
Launched by Ms. Bina Maniar Shah, Project 8p is an American non-profit organization, which works in the field of scientific research solely on the various rearrangements of the eighth chromosome. Between 2018 and 2021 a first phase of data collection, then the study of a hundred cases concerning invdupdel8p, dup8p, and del8p, led to the publication of a paper in July 2021. Thanks to “The Springer initiative Nature Content Sharing,” the text is freely available for your reading, here: Clinical and genomic characterization of 8p cytogenomic disorders.
In addition, the collection of data from patients with genetic changes to the eighth chromosome is still in progress because Project 8p has launched the first patient registry concerning chromosome eight (8), in order to become a single point of contact in the communication of these data. to researchers around the world. However, the researchers of any research project must agree to go through Project 8p in order to access this information. If you wish to register in this registry, you can access it here: Project 8p Patient Registry *. For more details on the research conducted by this organization, visit their Project 8p site.
GenIDA
“GenIDA acts as a sort of data collector. In the context of rare, even very rare diseases, it is often difficult to build cohorts of patients of suitable size and this is what we seek to do at the international level.”
This organization is interesting because its existence is based on the collection of data on genetic rearrangements of any chromosome, as long as the rearrangement is at the origin of any intellectual disability and/or autism spectrum disorders. Through very detailed, dematerialized and secure questionnaires, the data is collected concerning your loved one (or yourself) and thus kept in reserve until a sufficient number of people affected by the same genetic reorganization is reached, to constitute any scientific research project.
If you wish to join this collection in order to multiply the possibilities of scientific research on invdupdel8p, you can register here: GenIDA. The site is available in English and French, but the questionnaires are written in 7 different languages.
ParticipAACtion - InterAACtion
This scientific research project is led by the National Center for Scientific Research (CNRS), in France, and concerns all open people with complex disabilities with communication disorders, whether or not they use AAC “material” means. ”. People with invdupdel8p are indirectly concerned since language and communication disorders are prevalent in people with this genetic reorganization and the solution of Alternative and Enhanced Communication is often the recourse to propose a means of communication.
This research project therefore identifies people who use various methods of alternative communication, via interviews, questionnaires and the collection of data in the form of downloading on a coded and dedicated platform, videos taken during moments of our daily lives. “As AAC is understood here in a broad sense (and includes any adaptation on the part of the interlocutor), participants who use little or no workbook / tablet / signs are therefore also welcome.” If you wish to take part in this initiative, you can contact the contact person here: ParticipAACtion – InterAACtion.
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