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Study of rare variants in genes associated with Alzheimers disease

2 de May de 2017

The Institute of Health Carlos III has funded the project “Study of rare variants in genes associated with Alzheimer's disease in the Spanish population” in the call Strategic Health Action 2016, File Nº: PI 16/01652 with a budget of 139,150 €.

This is a multicenter project coordinated by Dr. Pascual Sánchez-Juan, Neurologist at the Marqués de Valdecilla University Hospital and responsible for the dementia line of the Research Group of IDIVAL “Neurodegenerative Diseases”.

  

Dementia Group

The objective is to detect rare genetic variants associated with Alzheimer's disease in the Spanish population through two complementary methods of genome study: next generation sequencing and exome chip. To carry out this objective we will use the large sample from our national consortium DEmentia GEnetic Spanish COnsortium (DEGESCO), which comprises one of the largest DNA collections of patients with neurodegenerative disease in Europe.

This project constitutes the largest genomic study in dementias raised to date in Spain. It addresses a top priority objective for the Spanish Science and Technology and Innovation Strategy, and its focus is on rare genomic variants coding; which have a high potential of translation to the clinic.