Línies de recerca

• Study of genetically determined dementias

  Research line linked to the clinical Genetic counseling program for familial dementias (PICOGEN) at the Hospital Clinic. The first studies were carried out in autosomal dominant Alzheimer's disease (ADAD), and currently the group has ongoing studies that also include genetic frontotemporal degeneration and genetic prion diseases. The aims of this research line are to characterize the preclinical and early phases of genetic dementias and to identify prognostic biomarkers and determinants of the severity of the biological activity. Our group had led/leads 7 funded research grants, which resulted in the publication in several high impact articles in and one doctoral thesis. We are also participating in international consortiums such as the Dominant Inherited Alzheimer Network (DIAN) and the Genetic Frontotemporal Initiative (GENFI). In this sense, our center is the only Spanish center participating in the DIAN-TU drug trial (ClinicalTrials.gov Identifier: NCT01760005) that aims to modify the course of the disease before the symptoms onset in this population. Dr. Raquel Sánchez-Valle leads the clinical research and Dr Anna Antonell leads the translational projects in this line.

• Diagnostic and prognostic biomarkers of early-onset sporadic Alzheimer's disease

  The early onset of symptoms, as well as the fact that Alzheimer's disease can present with atypical forms make the diagnosis of these patients challenging. In this sense, the ADCD group works at improving the diagnosis and characterization of patients with early-onset dementia through biochemical biomarkers and MRI and positron emission tomography neuroimaging and deciphering the genetic basis of the disease. This line of research has been awarded with 4 research grants and resulted in the publication in several articles in high impact journals and one doctoral thesis. The group collaborates with other research groups within Dementia Genetics Spanish Consortium (DEGESCO) and the European Early-Onset Dementia Consortium (EODC). Dr. Albert Lladó leads this research line.

• Healthy aging - Alzheimer's disease continuum

  The study of Alzheimer's disease (AD) in preclinical and prodromal phases is needed for the design of new disease modifying therapeutic strategies. The aim of this research line is i) to characterize, using biochemical, neuroimaging (MRI and positron emission tomography) and cognitive markers, the preclinical and prodromal phases of AD, ii) to define the role of several AD biomarkers (CSF and MRI), as predictors for a deleterious cognitive evolution and progression to AD dementia in subjects at risk for AD and iii) to design and to evaluate new cognitive tools for the detection and monitoring the earliest cognitive changes in AD. Our  group has carried out different published studies, 1 PhD thesis and has led or participated in 6 researh grants. The group participates in the Subjective Cognitive Decline Initiative (SCDI) Working Group. Dr. Lorena Rami leads this research line.

• Rare neurodegenerative dementias: Frontotemporal lobar degeneration and prion diseases

  I) Frontotemporal lobar degeneration our group has participated in several projects and publications in this field and collaborates with other groups both nationally and internationally in the study of this disease. On the other hand, the high genetic load in frontotemporal lobar degeneration links this line of research with our research line a), which focuses on the study of genetically determined dementias.

  II) Prion diseases and other rapidly progressive dementias (RPD). The Hospital Clínic in Barcelona is the reference center for the biological diagnosis of prion diseases in Catalonia, and includes determination of 14-3-3 protein, RTQuiC, genetic analysis, determination of codon 129 polymorphism and postmortem neuropathological confirmation of disease.The team has carried out different research projects and publications in this field focusing on biochemical markers, magnetic resonance imaging and neuropathological studies in prion diseases and other RPD. Dr. R Sánchez-Valle leads this line.

• Neuropathology of neurodegenerative diseases

  Our group works in close collaboration with the Neurological Tissue Bank (NTB) from the Hospital Clínic-IDIBAPS. The NTB of the Hospital Clínic-IDIBAPS was founded in 1992 and has studied more than 2000 brain samples from patients with neurodegenerative diseases and controls. Dr Raquel Sánchez-Valle is the Clinical co-ordinator of the NTB.