The first biobank in Europe of biological samples from patients with Angelman syndrome and their parents is born to support current and future medical-scientific research on this rare disease. A project possible thanks to the joint work of FAST-Foundation for Angelman Syndrome Therapeutics Italia, of the IRCCS Foundation “Carlo Besta” Neurological Institute and with the support of Department of Health Sciences-Medical Genetics of the University of Milan, del Center for Neural Science of New York University and of BioRep, a company of the Sapio group.
WHAT IS ANGELMAN’S SYNDROME
It affects one in 15,000 people, around 500,000 people worldwide, and occurs in early childhood. Angelman syndrome is a rare genetic disorder of neurodevelopment. Till today no cure treatments are available, but the monitoring and treatment of patients include multidisciplinary interventions for the management of the various difficulties that arise with the disease (nutrition, constipation, gastroesophageal reflux, scoliosis, epilepsy and insomnia) through pharmacological treatments and rehabilitative physical therapy and speech therapy.
“This project is in line with the most current indications relating to studies applied to the search for new treatments and biological markers associated with rare diseases” he explains Stefano D’Arrigo, project coordinator for the I.Besta Neurological Institute. «With this study, the first applied to this pathology, we want to implement research in this area. In fact, in order to identify the treatment of rare diseases, it is essential first of all to have biological material available to patients: the centralization of samples in a biobank has precisely this purpose. With this study, which involves international centers, we plan to collect biological samples from about a hundred Italian families ».
For over 10 years FAST has invested its funds in research for Angelman Syndrome and is the largest non-governmental funder of research for this disease with over 20 million dollars invested and with the aim of achieving effective treatments for patients suffering from this Syndrome. “Fast Italia – born as an Italian branch of the American Foundation for Angelman Syndrome Therapeutics – contributes to” global “research with this project”, explains Benedetta Sirtori of the FAST board of directors, “and brings attention to Italy on a rare but objectionable pathology of high scientific interest, with the aim of providing a further and valid tool at the service of researchers ».
The project, in addition to the collection of biological samples through blood and saliva samples, plans to start with a first study, the analysis of RNA and protein expression in the blood of a group of patients to verify the data obtained in the studies background on animal model.
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