We encourage Cooperation
We work with researchers studying this syndrome, in search of the mechanisms involved and the possible cures that could one day mitigate the effects of the syndrome. This is why we want to raise funds for scientific research and promote conferences that are open to families, scientists, therapists and anyone interested in the Phelan-McDermid Syndrome.
We encourage the coordination of efforts between research teams and we are looking for partnerships that can enable us to work quickly and efficiently.
We only recently inaugurated the Phelan-McDermid Syndrome Association in Spain. It has been an intense period with lots of work but significant progress has been made. We have discovered 80 cases in Spain in less than a year and we have implemented a great deal of activities, such as the First Scientific Symposium on the Syndrome, bringing together researchers, doctors, therapists and families.
From a scientific point of view, one of our most important achievements was the unification of clinical data and patient diagnoses in an International Medical Data Registry. This is crucial, since with this registry, all the data is centralised in a single place and is available to the limited number of scientists working on this syndrome around the world.
Now we want to boost these four research projects in Spain:
1. Genotype-phenotype correlation. This work is being carried out in the Laboratory for Physiopathology of Diseases of the Central Nervous System. INSERM Pierre and Marie Curie University. Paris (France) directed by the researcher, Catalina Betancur.
2. Establishment of a permanent diagnosis team by carrying out CGH Array tests. We want to conduct this work with the INGEMM Institute of Medical and Molecular Genetics of the University Hospital La Paz (Madrid) with the researchers Pablo Lapunzina and Julián Nevado.
3. Clinical trial with IFG1. This trial is being carried out at Mount Sinai Hospital in New York (USA) at the Seaver Autism Center for Research and Treatment and directed by the scientists Joseph Buxbam and Alex Kolevzon. We want to conduct this trial in Spain as well.
4. Description of the physical, behavioural and psychiatric phenotype of the individuals affected by the Phelan-McDermid Syndrome. This work is being carried out by the psychologists, Mónica López and Anna Roca, as part of the Postgraduate studies on “Mental health and behavioural problems in people with intellectual disabilities” at the International University of Catalonia, with the support of Dr Ramón Novell.
Creation of resources for research
- Patient registry.
- Bio-sample Collections
Scientific Community Meeting
- International Scientific Symposium in Madrid every two years
- Courses and Symposiums, in coordination with Spanish universities, for professionals, patients and students.
Promotion of scientific research
- Participation in conferences.
- Young researcher sessions.
Progress with the IGF-1 Therapy