Neurogenetics

   

Main researcher: Mª Jesús Sobrido Gómez

Genetic basis of neuro degenerative diseases:

  • Characterization of mutations causing spinocerebellar ataxias, spastic paraparesis
  • Movement disorders,
  • eCharcot-Marie-Tooth disease,
  • Functional consequences of molecular alterations.

Mutations databases:

  • Human Variome Project,
  • Genotype-phenotype relationship in rare genetic diseases.
  • Bioinformatics tools and statistics in Neurogenetics.

Translational Neurogenetics:

  • Medical assistance aspects and management of genetic testing in Neurology.
  • New diagnostic tools for neurogenetic diseases.
  • Ultra-sequencing and other genomic approaches. Implementation and evaluation of new diagnostic protocols in Neurogenetics.
  • Psychosocial aspects of genetic counseling and genetic analysis in neurodegenerative diseases.

Identification of genetic factors involved in common neurological diseases:

  • Parkinson diseas,
  • Migraine,

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Main researcher: Monserrat Fernández Prieto

Within the area of Neurogenetics, the projects within the context of characterization and cognitive-behavioural intervention in neurodevelopmental and intellectual disorders genetic caused are carried out in close collaboration with the areas of psychiatry and pharmacogenomics.

  • Study of rare genetic syndromes, neurocognitive assessment and intervention, to provide important information on specific aspects of behavioral and cognitive phenotype of undiagnosed diseases.
  • To determine neural correlates of tactile processing in children/teenagers with Autism Spectrum Disorder (ASD).
  • To determine the influence of tactile processing in the way that children/teenagers judge a social situation
  • To determine associations between neural correlates of tactile processing and social disruptive behaviors in children and teenagers with ASD.

In collaboration with Mª José Jove Foundationand with multiple patient associations, we have launched a series of projects aimed at a better understanding of the genetic basis underlying Autism Spectrum Disorders (ASD), Attention Deficit Hyperactivity Disorder (ADHD) and Obsessive Compulsive Disorder (OCD).

If you are interested in participating in these studies or in receiving more information on partner centers and associations, please feel free to contact us.

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