Peace researchers describe a new syndrome caused by a genetic alteration.

-the work has been published on Friday in the prestigious journal American Journal of Human Genetics

– for the first time at the global level a new genetic entity clinically recognized in 8 individuals is defined

– causes intellectual disability, features dismórficos, alterations of the balance or the behavior

Madrid, August of 2011- the American Journal of Human Genetics journal issued last Friday a study describing for the first time at the global level a new entity genetic clinically recognizable in eight individuals called 8q21.11. Researchers of the Institute of medical genetics and Molecular (INGEMM) of the Hospital Universitario La Paz of Madrid coordinated this study involving scientists from CIBER of rare diseases as well as renowned geneticists from Holland, Ireland, Poland and Sweden.

The study, led by Dr. Maria Bralo Palomares, the Institute for health research of Hospital La Paz (IdiPAZ), requires the phenotype associated with this microdeleción, which includes intellectual disability, traits characteristic dismórficos, hypotonia (decreased muscle tone), disturbances of balance, hearing loss (decreased hearing) and alterations to the behavior.

Knowledge of these symptoms will make it possible to diagnose new cases and delve into the associated clinical disorders, improved genetic counseling and clinical follow-up of these patients.

Chromosomal abnormality

In genetics, a deletion ” is a special type of chromosomal structural abnormality that consists in the loss of a fragment of DNA of a chromosome, causing an imbalance. In most cases, the deletions occur spontaneously, but individuals with the disorder, if they have reproductive capacity, have a 50% risk of passing it on to their children.

Microdeleción syndromes are defined as a group of clinically recognizable disorder characterized by a small deletion in a segment of the chromosome that covers multiple genes associated with diseases, each contributing to the phenotype independently. Microdeleción syndromes identified so far include the Velocardiofacial syndrome, Williams syndrome, Prader-Willi syndrome and Angelman Syndrome.

The clinical consist of the loss of chromosomal material, which comprises, in most cases between 1 to 3 billion base pairs of DNA, which can not be detected by conventional chromosomal analysis.

Latest technology

The medical advised and Molecular of the peace Institute has latest technology as a complete platform of Arrays (array-CGH) for the development of innovative products such as microarrays with application in pharmacogenomics and diagnosis of genetic diseases. The INGEMM researchers have designed a new product, called Karyoarray ®, which is a DNA microarray for diagnosing more than 350 genetic diseases and congenital malformations.

Comparative genomic hybridization of high-density arrays designed by researchers at the INGEMM, which has made possible to locate and characterize the genetic region responsible for this new syndrome have been used for carrying out the study.

This technique of genetic diagnosis can analyze the complete genome of an individual in search of alterations of gain or loss of genetic material, which results in a period of 48 to 72 hours.

Peace research

IdiPAZ is the Institute for health research of the Hospital Universitario La Paz and manages all of the resources of research, development and innovation of the Centre with the aim of contributing to the promotion and protection of the health of the population. There are 44 research groups focused on six areas: neuroscience, cardiovascular, infectious diseases and immunity, pathologies of large systems, cancer and human molecular genetics and, finally, surgery, transplantation and health technologies.

It is an area of biomedical research fruit of the relationship between the hospital and the Foundation for biomedical research, Universidad Autónoma de Madrid and the Laín Entralgo Agency of the Madrid community, which has allowed to configure multidisciplinary teams to tackle joint research projects.

Medical genetics and Molecular

The Institute of medical genetics and Molecular of the Hospital La Paz (INGEMM) was created in 2008 and is part of IdiPAZ. Its goal is to provide a comprehensive solution to the growing demand for clinical genetics, cytogenetics and molecular genetics. The INGEMM integrates research, clinical practice and laboratory diagnosis in the same Institute, in a multidisciplinary and comprehensive framework of the current. genetic