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

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Please make a donation



GENETIC RESEARCH

In terms of syndromes with a genetic basis, back in 2004, it was obvious where we had to start from, to outline a more precise genetic profile and to find out exact correlations between what geneticians and doctors call FENOTYPE and GENOTYPE; i.e. trying to
make connections between a person’s clinical symptoms - in our case the quantity of lost genetic material (deletions, RING) or badly positioned ones (translocations) - and his/her genetic situation.
Generally, it is correct to think that the more lost genetic material, the bigger the symptoms, but it is also very important to try to understand what lost or damaged genes are contained and how important they were to control some functions of the human body.
The ‘as above’concept implies a big scientific, financial and organizational effort, which has kept us busy since 2004 and which continues to be one of the principal challenge for the future.
From the beginning we could count on Professor Giovanni Neri’s interest and dedication.
He is the Director of Medical Genetics at Università Cattolica del Sacro Cuore in Rome and has been a member of our Scientific Committee since its foundation.
The first aim was to collect our children’s blood samples, as well as a parent’s one, in order to do all the necessary tests and analisy.

Study grants and doctorates supported by RING14 in the GENETIC area:

2004: annual study grant dedicated to the tests of the first blood samples received from the families.

2005/ 2007: three-year research doctorate assigned to Doctor Laura Semirara (Università Cattolica del Sacro Cuore in Rome) ended successfully with the discussion of her thesis “Ring14 Syndrome: Clinical-Genetic Data”. It has been the first international study, conducted on 27 patients joining the Association, which used the FISH technique (Fluorescent Inside Ibridation). This technique is able to identify precisely where break and “loss” points of genetic material are in a chromosome.

2008-2009: Doctor Orteschi’s (Università Cattolica del Sacro Cuore in Rome) study grant. She has made another sophisticated analysis on our samples with MICRO ARRAY technique. This innovative, groundbreaking research, has given us an even more precise and detailed mapping of the genes lost in this syndrome, moreover it can identify their “expression”, i.e. it helps us understand what these genes were deputed to and which their job inside the human body was.

2008-2009: Doctor Ricciardi’s (Università Cattolica del Sacro Cuore in Rome) study grant. She begin the study of RNA and of  the functions of lost cgenes in skin fibroblasts.

Blood samples necessary for these studies can be required by the researchers directly to Bio Bank TGBN GALLIERA.

Video

Documents

Interview Dr. Zollino Marcella (58 KB)
Project 2004-2006 (8.5 KB)
Project 2007-2009 (51 KB)
Project 2010-2011 (9.9 KB)

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