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GI-1698 - MOLECULAR PATHOLOGY OF RARE DISEASES   [4659]

Group info
Code: GI-1698
Short Name: MolPath-RD
Name: Molecular Pathology of Rare Diseases
Department: Centro de Investigación en Medicina Molecular e Enfermidades Crónicas (CIMUS)
Web: http://www.usc.es/medicina/UETeM.html
Contact: ARAUJO VILAR, DAVID - david.araujo@usc.es
Telf.
Research field
  • Molecular basis and clinical characterization of familial lipodystrophies
  • Biochemical analysis and characterization of post-translational modifications in proteins involved in physiopathology
  • Neurodegenerative process associated to BSCL2 variants.
  • Etiopathogenic bases, physiopathological mechanisms and therapeutical principles of the metabolic syndrome
  • Use of artificial intelligence as an aid to the diagnosis of lipodystrophies.
Technology services
  • Level-2 biosafety laboratory adequate for work with type "scrapie" prions.
  • Genotyping, proteomic analysis and crystalography in thyroid pathology, including cell culture and real time PCR
  • Genotyping and proteomic analysis in familial lipodystrophies, including cell culture and real time PCR
  • Clinical evaluation of rare lipodystrophic syndromes.
  • Treatment with human recombinant leptin of rare lipodystrophic syndromes.
Key words
  • Protein post-translational modification; thyroid molecular pathology; metabolic syndrome; lipodystrophies; adipogenesis; neurodegeneration
Researchers
Name Position PIID ORCID Contact:
ARAUJO VILAR, DAVIDCoordinador582600000-0003-2852-7851E-Mail: david.araujo@usc.es
HERMIDA AMEIJEIRAS, ALVAROMembro592830000-0003-3757-262X
RODRIGUEZ REQUENA, JESUSMembro602050000-0003-1954-4975
RUIZ RIQUELME, ALEJANDRO IVANMembro1861890000-0001-6581-7132
SANCHEZ IGLESIAS, SOFIAMembro0000-0003-3887-0573
VILLA BELLOSTA, RICARDOMembro1862230000-0002-1680-552X
COBELO GOMEZ, SILVIAIFP
IP Principal Investigator, IFP Training Research, PA Supporting Researchers and Technicians
External collaborators
Name Institution
ALFONSO RODRIGUEZ PEREZ  SERGAS. CHUS
Antía Fernández Pombo  Complexo Hopsitalario Universitario de Santiago
Everardo Josué Diaz López  Complexo Hopsitalario Universitario de Santiago
Teresa Prado Moraña  Complexo Hopsitalario Universitario de Santiago
From: To:
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