The Siberian Scientific Medical Journal
 
 
№ 5 / 2013 / 25-36

Genomic technologies for diagnosis of intellectual disability: results of the «CHERISH» project

Author Affiliations

Abstract

Intellectual disability is a highly heterogeneous disorder both from genetic and clinical point of view. In most cases of idiopathic mental retardation the diagnosis is still based on clinical examination only and not involved molecular genetic testing. Generation of new knowledge about hereditary causes of intellectual disability and improving its diagnosis through the application of modern high-throughout whole genome technologies was the main goal of the CHERISH project implemented within the 7th Framework Program of the European Union in 2009–2012 in 9 European countries, including Russia. Information about the project and its key results is given in this article.

Key words

copy number variation (CNV), mental retardation, array-CGH, microdeletion/microduplication syndromes, next generation sequencing, intellectual disability
References
About Authors (Correspondence):

Lebedev I.N. – doctor of biological sciences, head of the laboratory of cytogenetics, e-mail: igor.lebedev@medgenetics.ru

Nazarenko L.P. – doctor of medical sciences, professor, vice-head, e-mail: ludmila.nazarenko@medgenetics.ru

Kashevarova A.A. – candidate of biological sciences, researcher of the laboratory of cytogenetics, e-mail: anna.kashevarova@medgenetics.ru

Skryabin N.A. – candidate of medical sciences, researcher of the laboratory of cytogenetics, e-mail: skryabinn@mail.ru

Salyukova O.A. – candidate of medical sciences, researcher of the laboratory of hereditary pathology, e-mail: olga.salukova@mail.ru

Chechetkina N.N. – postgraduate student, e-mail: valete@mail.ru

Tolmacheva E.N. – candidate of biological sciences, researcher of the laboratory of cytogenetics, e-mail: kate.tolmacheva@medgenetics.ru

Sazhenova E.A. – candidate of biological sciences, researcher of the laboratory of cytogenetics, e-mail: elena.sazhenova@medgenetics.ru

Vovk S.L. – head of the clinical and diagnostic laboratory of Genetic clinic, e-mail: svetlana.vovk@medgenetics.ru

Rudko A.A. – candidate of medical sciences, head of Genetic clinic, e-mail: aleksey.rudko@medgenetics.ru

Puzyrev V.P. – doctor of medical sciences, professor, academician of RAMS, head, e-mail: valery.puzyrev@medgenetics.ru

Magini Pamela – PhD, Laboratory of medical genetics, Department of gynecology, obstetrics and pediatrics sciences, e-mail: pamela.magini@unibo.it

Graziano Claudio – MD, Laboratory of medical genetics, Department of gynecology, obstetrics and pediatrics sciences, e-mail: claudio.graziano@unibo.it

Romeo Giovanni – professor of medical genetics, e-mail: romeo@eurogene.org

Full Text

Received: 08/02/2015