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Sunday, December 17, 2017   00:35 EET
 

 

 

 

 

Implementation of a complex genome profiling diagnostic algorithm for patients with congenital and developmental abnormalities (CONGEN)

Project objectives

1) Evaluation and clarification of genetic mechanisms of congenital and developmental abnormalities in selected patients from Romanian population by corroboration of these disorders with different structural variants in human genome or identification of the deletion/duplication events using modern techniques as aCGH, MLPA, real time PCR, sequencing, and adapting them to a clinical setting at our P3 partner. This approach will indicate new therapeutic opportunities for these abnormalities.

 

2) Integration in the international endeavor of identifying and confirming new genomic variants for these rare disorders through active participation and inclusion of the Romanian sample data in the multi-center international consortia. Collaboration with experts in the field and sharing the data on whole genome array with International Standards for Cytogenomic Arrays (ISCA) Consortium, Office of Rare Diseases Research from NIH, etc., will enable our contribution to global harmonization of genetic profiling of the patients with congenital/developmental disorders.

 

3) Implementation of a complex genome profiling diagnostic algorithm for patients with congenital and developmental abnormalities and the use of the integrated results for improving diagnostic yield, better genetic counseling and clinical management of the patients.

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