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

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Gene Expression Analysis in Ring Chromosome 14 Syndrome

GENE EXPRESSION ANALYSIS IN RING CHROMOSOME 14 SYNDROME

PRINCIPAL INVESTIGATOR: Nancy Spinner, The Children’s Hospital of Philadelphia at The Perelman School of Medicine at the University of Pennsylvania USA
Partner: Giovanni Neri, Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Roma, Italy

DURATION: 2 YEARS FROM OCTOBER 2012 TO OCTOBER 2014
FINANCED BY: RING14 ITALY & RING14 USA
SUBMITTED TO PEER REVIEW PROCESS WITH INTERNATIONAL BOARD

Ring chromosomes are associated with a variety of clinical phenotypes including growth delay, intellectual disability and severe, difficult to control seizures, even in the absence of ring associated deletions or duplications. The overlap between phenotypes associated with different ring chromosomes has led to the hypothesis that the ring structure itself may cause the clinical symptoms.
Dr. Nancy Spinner’s laboratory at the Children’s Hospital of Philadelphia has studied ring chromosomes since 2006 and is working to test the hypothesis that the ring structure alters gene expression. They will utilize cell lines from mosaic patients, who have some cells with the ring, and other cells with two normal chromosomes. By comparing the expression profiles of normal cell lines and ring containing cell lines they hope to identify altered expression profiles that are the cause of the seizures. They will also compare the expression profiles of cell lines from patients with rings that have deletions or duplications to those from patients with deletions and duplications not associated with rings.
The Spinner laboratory is focused on ring chromosome 14 (r(14)) and ring chromosome 20 (r(20)), but plans to extend their studies to additional rings. It is their hope that the discovery of the mechanism for ring chromosome associated seizures may lead to more rational treatment.

Andrea Penton, PhD (Research associate) Andrea Penton has worked with Dr. Spinner since 2010 and has expertise in many of the technologies that will be utilized in this project.  She has studied the cell cycle in eye development in Drosophila and has an excellent cell biology and cytogenomics background.  She will carry out or oversee all of the RNA-sequencing experiments.

Deborah McEldrew: (Research assistant) Debbie has worked with Dr. Spinner since 2010 (and previously from 1986 to 1991) and has outstanding cell culture experience. She carried out all of the cell culture and separation studies for the preliminary results of this project.  She will do the cell culture work and help Dr. Penton with the expression experiments.

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