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The "Ring 14 International non profit support group for research on rare neurogenetic disease"
(ONLUS) was established on May 30th 2002 in Reggio Emilia, Italy. The Association has been set up
by a group of parents with children affected by Ring 14 Syndrome.
The most constant symptoms of Ring 14 Syndrome concern the central nervous system and the retina. Mental and motor
retardation, hypotonia, microcephaly may vary, while speech delay and epilepsy are constant.
Dysmorphisms include: flat occiput, high forehead with prominent sagittal suture, mild palpebral
ptosis, epicanthic folds, elongated face, large root and round tip of nose
anteverted nostrils,
long philtrum, low set ears with big lobe and prominent antihelix,
microretrognathia, short neck;
lymphedema on the back of hands and feet. Intra-thoracal and intra-abdominal organs are normally
developed. Hyper pigmented skin spots may be present. An immunoglobulin deficiency has been noted,
with a high risk of respiratory infections.
The Association is registered in provincial register of volunteering associations and is connected
to the service centre "Dar Voce", to the "Cooperativa Sociale Airone" of Reggio Emilia and to the
European Network on rare genetic disease "Eurochromnet" in The Netherlands
(www.chromosomehelpstation.com).
The operative office finds hospitality in Infantile Neuropsychiatry Department of "Santa Maria Nuova"
Hospital, in Reggio Emilia.
The Association has two main goals:
- Identifying and connecting all families with children affected by the Ring 14 syndrome in order
to offer them the support of our association and to create a valid group of self help.
- Creating a network of consultants including doctors, scientists, and health workers
involved in the problems related to the Ring 14 syndrome, in order to design a protocol of medical
survey for Ring 14 Syndrome patients. This should lead to the investigation of correlations
between clinical manifestations and molecular genetic changes and the establishment of the
first medical and scientific 'Data Bank' on this syndrome.
A "Scientific committee", including famous doctors working on genetics and neurosciences, has been
set up in order to study the problems related to the Ring 14 syndrome. The committee is formed by:
- Dr. Elvio Della Giustina, director of the Infantile Neuropsychiatry Department in Santa Maria
Nuova Hospital, Reggio Emilia
- Dr. Giuseppe Gobbi, director of the Infantile Neuropsychiatry Department in Pizzardi Hospital, Bologna
- Dr. Giovanni Neri, director of the Genetics Institute at the Catholic University Sacro Cuore, Rome
The members of the scientific committee are working on 3 diagnostic research studies, which will
be applied on children with Ring 14 Syndrome and also on children with deletion or aberration
of chromosome 14.
- The genetic research is lead by Dr. Giovanni Neri and this research has the goal
of identifying specific genes involved in deletions and other aberrations of chromosome 14
(especially the ring-shaped process) and to understand what kind of role these genes play in
the syndrome process.
- The neurometabolic and neurophysiological research will be lead by Dr. Elvio
Della Giustina and it will be based on new neuroradiological and nuclear techniques in order
to study morphology and functions of the nervous system.
- The research on neuropsychological functions compared to cognitive functions
will be lead by Dr. Giuseppe Gobbi. The study has several intentions like demonstrating
the correlation between epilepsy and cognitive dysfunctions and to identify different
functions of brain regions that are mostly involved in neuropsychological development.
The project based on the genetic research started on April 2004. The second and third project
will start at the beginning of 2005. All three projects will go on for the coming 3 years.
Our Association is the only one in the world that is concerned with the Ring 14 syndrome and
it represents the concreteness of the material and affective engagement that we put everyday
in our children's care, hoping that our experience can be helpful for other families.
We invite all families with children affected by the Ring 14 Syndrome or children with other
chromosome 14 aberrations to contact our Association and collaborate with us in this project.
We truly hope that this project will be helpful in improving care and development of our children.
Thank you.
My best wishes,
Stefania Azzali,
President
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