AELIP looking for 150 volunteers to complete the collection of blood samples

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For the study examines whether participants are carriers of the neurodegenerative disorder "Celia Encephalopathy"

The Association of Relatives and Affected Lipodystrophies (AELIP) seeks 150 volunteers to complete the study to discover whether participants are carriers of the neurodegenerative disorder "Celia Encephalopathy".

AELIP continues the sequencing study is to analyze the DNA obtained from a small blood sample to determine whether or not a carrier of this mutation in the gene BSCL2 neurodegenerative pathology "Celia Encephalopathy".

In 2013, described in six children in the region of Murcia a new genetic disease, "Celia Encephalopathy" have a high prevalence rate in this county.

This is a severe neurodegenerative disease follows an autosomal recessive inheritance pattern, ie, that parents can transmit the disease but do not suffer.

The University of Santiago de Compostela, in collaboration with the AELIP and the Virgin Hospital of the Arrixaca of Murcia association is conducting this study, led by Professor David Araújo-Vilar, which aims to determine the prevalence (frequency) actual carriers of this mutation in Totana.

This, in addition to the scientific interest is irrelevant since it will advise potential asymptomatic carriers of the potential risks of having offspring with the disease.

The City of Totana and AELIP requested late last year selfless and voluntary cooperation of citizens of this county to sample that allows to know if they are carriers of the neurodegenerative disorder "Encephalopathy Celia" with a high prevalence rate in this municipality, obtaining a high degree of participation of the population in this sampling totanera in two waves of blood extractions were performed to carry out the relevant analysis.

However, now another 150 volunteers are needed more in order to complete the sequencing study carriers of this gene in Totana.

Those interested in participating in this study should go to the offices of AELIP, located in the Multidisciplinary Comprehensive Care Center for People and Families with Rare Diseases "Celia Carrion Perez de Tudela", located at number 7, Calle San Cristobal de Totana, before next May 3 Monday to Friday from 9:30 to 13:30 pm and Tuesday and Wednesday from 17:00 to 19:00 hours, or call the phone 692 397 840.

Once signed consent will be assigned a time of day May 3 to proceed with the extraction of the blood sample is not necessary to come fasting.

The only requirements that are required are: a native of Totana, have more than 49 years and not have any kinship of first or second degree relatives (parents, siblings, children, grandparents and uncles) with children already diagnosed.

AELIP would like to thank the collaboration of the College of Nursing of Murcia and all volunteer nurses who are working with the study and volunteers who wished to participate to advance the research of this disease.

noticia
AELIP looking for 150 volunteers to complete the collection of blood samples, Foto 1

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