Research efforts are organized through Ring14 International (www.ring14.org), a worldwide nonprofit organization that functions as a coordinating network for the various national chapters which all share the same objectives. The main goals of Ring14 International is to support and promote, on an international level, medical and scientific research regarding the syndromes of the 14th chromosome. Ring14 International consists of the established chapters in Italy and USA and new chapters in France, Spain, Netherlands, and Belgium with more opening in the future.
Together, we have funded several critical research projects, including genotype/phenotype correlations; neurological assessments of pediatric epilepsy; and language development studies. Our international scientific advisory board consisting of MDs and PhDs critically evaluates all grant proposals an recommends funding for those with the most transformative potential.
In an effort to aid researchers, we also
- maintain a biobank that contains samples of DNA, leukocytes, lymphoblast, and fibroblast cells in agreement with Telethon Network of Genetic Biobanks (TNGB, http://biobanknetwork.telethon.it) and, in particular, the Biobank located at Gaslini Institute, formerly Galliera Hospital in Genoa.
- maintain a clinical database with 54 patients including information on genetics, growth and development, neuropsychiatry and neurology, comorbidities, therapies, etc. The database is owned by Ring14 International and it is updated by Doctor Rinaldi Berardo.
The biobank and database are available to the international scientific community, upon request. For complete information, please visit www.ring14.org and enter the researcher portal. You can also find a complete list of scientific projects/grants funded by Ring14 associations.
