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RING 14 NON-PROFIT ASSOCIATION
HELP AND RESEARCH FOR CHILDREN WITH RARE GENETIC DISEASES

Researchers

Investigator

Zuffardi Orsetta

Telethon has recently sponsored a study called “THE RING14 SYNDROME : TOWARDS A DETAILED GENOTYPE-PHENOTYPE CORRELATION”, which will last 2 years (2013-2015) and will be conducted by Doctor Orsetta Zuffardi, university teacher of Genetics at the University of Pavia.

Zuffardi Orsetta

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Investigator

Spinner Nancy

Ring14 Italy Onlus, in cooperation with its twin association Ring14 USA, has recently funded a research project called “Gene Expression Analysis in Ring Chromosome 14 Syndrome”, which will last 2 years (2012-2014) and will be headed by Prof. Spinner.

Spinner Nancy

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Investigator

Herault Yann

Ring14 Italy Onlus, in cooperation with its twin association Ring14 USA, has recently funded a research project called “Creation of a rat model hit by Ring14 aimed at better understanding the physiopathology of the human syndrome”, which will last 2 years (2012-2014) and will be headed by Prof. Herault, Director of the Institut Clinique de la Souris (ICS) of Strasbourg, specialized in translational research and functional genomics.

Interview to Professor Yann Herault, Responsible for the Research


Video

Herault Yann

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Investigator

D'odorico Laura (prof.ssa)

- Ordinary professor of developmental psychology, Psychology Faculty, Milan-Bicocca University.
She began collaborating with our Association in 2010 and she’s Responsible for scientific of the language study project.

D'odorico Laura (prof.ssa)

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Investigator

Cherry Anne

Anne Cherry is a graduate student at Harvard University, working on her Ph.D. in Biological Chemistry and Molecular Pharmacology. She studies stem cell research. As a result of her knowledge of IPS cells and her interest in Ring Chromosomes (which are considered a rarity), Anne has decided to study Ring14.

Cherry Anne

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Investigator

Zampini Laura

Research Ph.d. - Psychology and Cognitive Sciences

This doctor is performing a study for the biennium 2010-2011 in collaboration with the Università degli Studi di Milano-Bicocca – Department of Psychology, under the supervision of Professor D'Odorico, on a sample of Italian children.

Currently I am working as a reseracher in the Department of Psychology at the University of Milano-Bicocca. My main research target is 'the acquisition of  speech in children with typical development and in children with genetical syndroms, keeping into account the peculiar relationship between the cognitive and the linguistic developments'. Since June 2010 I have cooperated with the association Ring14 in the frame of the research project on the “Development of speech in children with alterations of chromosome 14”.

Zampini Laura

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Investigator

Zanchi Paola

Psychologist – Free Lance

Doctor Zanchi is doing a study for the biennium 2010-2011 in cooperation with the Università degli Studi  di Milano-Bicocca- Department og Psychology, under the supervision of Professor D'Odorico, on a sample of Italian children.

“My main research targets concern the development disorders of the cognitive functions in the clinical environment and the development of the speech in a research environment. Since June 2010 I have cooperated with the association Ring14 in the frame of the research project on the “Development of speech in children with alterations of chromosome14”.

 

Zanchi Paola

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Investigator

Scarano Angela

Physician – Child Neuropsychiatrist

Doctor Scarano has followed the set up of our clinical database in the frame of a grant supported by Ring 14 during the tree year period 2005-2007 at the hospital Santa Maria in Reggio Emilia/Italy. Since 2009 Angela has steadily cooperated  with Ring 14 in keeping our clinical database updated and working as a reference point for our families.

Scarano Angela

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Investigator

Giovannini Simona

Physician – Child Neuropsychiatrist

Thanks to our supporting a  Ph.d. during 2006/2008 at Università Cattolica del Sacro Cuore in Rome, this physician could study the correlations between the CLINICAL-
ELECTRIC FENOTYPE IN THE RING 14 SYNDROME and CORRELATION WITH THE GENOTYPE. Since 2009 she has carried on her consultancy with our association taking care, besides other topics,  of editing scientific papers, gathering clinical data for our database, visiting our children during congresses or at resort places. 

Giovannini Simona

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Investigator

Ricciardi Stefania

Doctor Ricciardi started her cooperation with our association in 2010 by means of a grant at the università Cattolica del Sacro Cuore of Rome – Department of Medical Genetics. The target of her studies is to analyse the RNA of our patients and particularly to detect the gene or the genes involved in the epileptic attacks, which are very frequent in our children.

Genetic research

Ricciardi Stefania

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Investigator

Ponzi Emanuela

Physician

Doctor Ponzi started her cooperation with our association in 2011 thanks to our support to a grant at the Università Cattolica del Sacro Cuore of Rome – Department of Medical Genetics. She is in carge of the clinical research coding and of setting up our Clinical Database for the development of the diagnostic indepth research our association is working on, tested both on patients with chromosome ring14 and patients suffering from all kinds of deletions and aberrations related to chromosome 14, by means of clinical, genetic, neurometabolic and nuropsychological data gathered through their medical documents and direct searches done during the staying at Dynamo Camp.

“This quote gives a trusty picture of what I am and the reason why I have followed this path in my studies. What we do is just a drop of water in the ocean, but if we did not do that, the ocean would have a drop of water less. Mother Teresa.”

Ponzi Emanuela

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Investigator

Orteschi Daniela

Citogenetics and Molecular Citogenetics Laboratory / Università Cattolica del Sacro Cuore-Roma. Thanks to our support to a grant during 2008, she has been in charge of
the citogenetic analysis through the array-CGH technique.

“Genetics won me soon, since my first lesson till my third year at university. From then on the path I had to follow in my life was clear and I shaped my career in that sense. I feed day by day my passion for human genetics as I am sure that somehow I am playing a role in a mysterious, larger design. I do hope my work can give a small contribution to all children and their courageous families.

Orteschi Daniela

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Investigator

Seminara Laura

She has been working on a Ph.d. at the Laboratorio di Citogenetica e Citogenetica Molecolare at the Università Cattolica del Sacro Cuore of Rome, thanks to our support during the triennium 2005-2007. She has been working on the citogenetic analysis of the blood samples gathered thanks to the cooperation of many families. She has successfully defended her thesis “THE RING14 SYNDROME: CLINIC-GENETIC DATA”

“I sincerely wish to thank the families, the associates and my colleagues for the loveliness and the kindness the showed to me. I must say that working with and for you has been for me really important, not only professionally but also from a personal point of view. I hope that with my work I have contributed to go a step forward in the study and understanding of this syndrome and also to have been able to give a smile to the families of these special children. Again thanks to everybody.”

 


 

Seminara Laura

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