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Research Groups

Neurogenetics and Molecular Medicine

  • Janet_Hoenicka

    Janet Hoenicka - Group leader

    Dr. Hoenicka has a PhD in Biological Science, by the Universidad Autonoma de Madrid in 1994. She is an affiliated researcher from Mental Health CIBER (CIBERSAM) since 2008, she is a researcher in the National Health System since 2010, and she has received the Accreditation of Human Genetics for her merits in health care, research and teaching in human genetics since 2011.

    In January 2016, she signed up for the Pediatric Research Institute – Hospital Sant Joan de Déu (Barcelona), where she coordinates research lines inside the research group "Neurogenetics and Molecular Medicine". Her main scientific interest is discovering the role of the protein ANKK1 on neuropsychiatric disorders vulnerability and its relation to neurodevelopment. The research work includes the study of genes in patients and their pathophysiology using animals and cellular models.

    Previously, Dr. Hoenicka had led the group of "Genetics and Pathophysiology of Brain and Mental Disorders" in the CIPF (2012 – 2015) and the group "Molecular Biology of Psychiatric Disorders" at the Institute of Health Research – Hospital 12 de Octubre (2003 – 2012), where she developed a basic research line together with Psychiatry Department to determine the molecular basis of psychiatric disorders, especially addictions and schizophrenia.

    In 1998, she was incorporated in the Tissue Bank for Neurological Research (BTIN, UCM, 1998-2002) as head of development of molecular diagnosis of various neurological diseases, especially movement disorders and dementias. In her first post-doctoral period (1995-1997, CEDEM, CBM) she determined the structure of PCCB gene (Sub-unit of the enzyme β propionyl-CoA carboxylase), that was the basis of the design of the molecular diagnosis of patients with propionic acidemia. During her PhDl training (Molecular Biology Center Severo Ochoa, CBM 1989-1994), she participated in the sequencing project of chromosome III from Saccharomyces cerevisiae and she assessed the expression of heterologous genes in this organism.

    She has been principal investigator of national competitive projects since 2006, she has published 48 research papers, she has directed 7 doctoral theses and she has participated in national and international conferences with posters, oral communications and lectures.

    jhoenicka@fsjd.org

  • Francesc_Palau

    Francesc Palau Martínez - Investigador

    Dr. Francesc Palau is Head of Genetic and Molecular Medicine and director of the Pediatric Institute for Rare Diseases (IPER) of the Hospital Sant Joan de Déu in Barcelona, where he also directs the Institute of Pediatric Research (IRP).

    His scientific work focuses on the study of genetic and pathophysiological bases of neuromuscular and neurodevelopmental diseases and translational research in rare diseases. The research group of Dr. Palau is part of the Center for Biomedical Network Research on Rare Diseases (CIBERER), which has been scientific director between October 2006 and February 2016. He is also research professor at the Institute of Biomedicine of Valencia (CSIC), currently leave in absence.

    In June 1982 he was graduated in Medicine and Surgery (MBChB) from the University of Valencia, where he obtained the doctorate in medicine (MD) in December 1982 and doctor of philosophy (PhD) in 1989. Dr. Palau was trained in pediatrics and human and clinical genetics at the University Hospital La Fe in Valencia (1985-88). In 1989 and 1990 he worked as visiting scientist and postdoc fellow at the Department of Biochemistry & Molecular Genetics of St. Mary's Hospital Medical School, University of London. From 1991-2000 he worked as a physician in the Genetics Unit of La Fe Hospital, accounting for the program on neurogenetics.

    Highlights of his scientific contributions in human genetics and disease are the participation in the discovery and cloning of genes related to Friedreich ataxia (FXN) and Charcot-Marie-Tooth neuropathy (GDAP1 and MORC2). He has published the contributions of his group in peer-review journals such as Science, Nature Genetics, American Journal of Human Genetics, Human Molecular Genetics, PLoS Genetics, Journal of Biological Chemistry, FASEB Journal, Annals of Neurology, Brain, Neurology, Pediatric Research y Disease Models & Mechanisms.

    Among the awards the Boehringer Mannheim Prize in Human Genetics 1992, the Ordesa Prize for Research in Pediatrics of the Spanish Pediatrics Association in 1993 and 1997, the Prize of Neurogenetics-Decade of the Brain 1997 of the Spanish Society of Neurology, the Reina Sofía Award on Prevention of Disabilities in 2004 and the 2012 Research Award of the Spanish Federation for Rare Diseases. Dr. Palau is or has been a member of international committees such as PLoS One academic editor, the Scientific Committee of the Fondation de Maladies Rares in France since 2012, the Scientific Program of Human Genetics 2012-15 European Society Committee and the European Union Committee of Experts of Rare Diseases (EUCERD) 2010-13. He is currently coordinator of the Strategy for Rare Diseases of the National Health System and coordinator Orphanet-Spain.

    fpalau@sjdhospitalbarcelona.org

  • Mónica Roldan Molina - Researcher

    mroldanm@sjdhospitalbarcelona.org

  • lara_cantero_2016

    Lara Cantarero Abad - Postdoc - associate researcher

    Postdoctoral researcher

    Group Neurogenetics and Molecular Medicine - Hospital Sant Joan de Deu, Barcelona

    From July 2016 - present

     

    PhD thesis in Biology

    Specialised in Molecular Biology

    2015

    Title of thesis: Implication of human kinase VRK1 in the formation of the bodies of Cajal and its pathological implications.

    Institute of Molecular Cell Biology and Cancer (IBMCC), CSIC - Universidad de Salamanca

     


    PhD course - DEA

    2010 - 2011

    "Cellular and molecular pathophysiology and pharmacological implications."

    Department of Physiology and Pharmacology and Departament of Biochemistry and Molecule Biology, Universidad de Salamanca.

     

    Licensed in biology

    Specialised in Health Biology

    From 2005 to 2010

    Faculty of Biology, University of Barcelona.

     

    lcantarero@sjdhospitalbarcelona.org

  • Alba Aina Castells Santamaria - Postoc - associate researcher

    acastells@fsjd.org

  • Xochitl_Helga

    Xochitl Helga Castro Martínez - Postdoc - associate researcher

    Postdoctoral researcher

    Period: November 2014 - October 2016.

    Department of Genetics at the University of Valencia, Valencia, Spain.

    Pediatric Research Institute of the Hospital Sant Joan de Deu, Barcelona, ​​Spain.

    Research Project: Effect of rs2396753 polymorphism and differential expression of FOXP2 in patients with schizophrenia.

     

    PhD thesis in Human Genetics

    Period: February 2009 - February 2014.

    Institution: Division of Molecular Medicine Biomedical Research Center of the West, Mexican Social Security Institute.

    Thesis title: Analysis of linkage disequilibrium in HLA class III genes in Mexican mestizo population.

     

    Master's Thesis in Human Genetics

    Period: February 2009 - July 2012.

    Institution: Division of Molecular Medicine Biomedical Research Center of the West, Mexican Social Security Institute.

    Thesis Title: Genetic diversity in the TNF locus in mestizo and indigenous population of Mexico.

     

    Minor thesis in Biology

    Specialised in Human Genetics and Molecular Medicine

    Institution: Division of Molecular Medicine Biomedical Research Center of the West, Mexican Social Security Institute.

    Title of thesis: Polymorphism I / D gene Angiotensin Converting Enzyme (ACE) in population of Northwestern Mexico.

     

    Licensed in biology

    Period: August 2000 - December 2005.

    University Center for Biological and Agricultural Sciences, University of Guadalajara.

    xcastro@fsjd.org

  • Laura_Dominguez

    Laura Domínguez Berzosa - Postdoc - associate researcher

    Postdoctoral researcher in CIBERER

    Genetic, cellular and pathophysiological basis of neuromuscular diseases; Neurobiology, Neurogenetics and pathophysiology of vulnerability to neurological and psychiatric disorders.

    From 2015-present

    Group Neurogenetics and Molecular Medicine - Hospital Sant Joan de Deu, Barcelona

     

    Postdoctoral researcher

    Fundamental Stem Cell Biology

    From 2012-2014

    Regenerative Medicine Institute (REMEDI), National University of Ireland (NUI Galway)

     

    Doctor of Biology

    Specialised in Neurobiology

    2012

    Neurodevelopmental and morphogenetic central nervous system in vertebrates.

    Department of Cell Biology, Universidad Complutense de Madrid.

     

    Minor thesis in Biology

    Specialised in Neurobiology

    From 2006 to 2007

    Distribution of thyrotropin releasing hormone in the CNS of frogs and amphibians urodeles.

    Department of Cell Biology, Universidad Complutense de Madrid.

     

    Licensed in biology

    Specialised in Neurobiology

    From 2001 to 2006

    Faculty of Biology, University Complutense of Madrid.

    ldominguezb@fsjd.org

  • Loreto Martorell Sampol - Postdoc - associate researcher

    lmartorell@sjdhospitalbarcelona.org

  • Maria_Iribarne

    María del Mar Pérez Iribarne - Postdoc - associate researcher

    Consultor specialist facultative (Hospital Sant Joan de Déu) from 2014.

    Senior specialist facultative in 2006

    From January 2000 Facultative in the Section of Cytogenetic to Genetic Department (HSJD)

    Head of the Section of Genetics (HSJD). From January 1998 to December 1999

     

    Training:

    Accreditation in Human Genetics (AEGH) in 2000

    Biologist specialists in Clinical Analysis (Genetics Section) for Official Biologists Collage in 1994

    Doctor in Science Biology. Thesis title: "Mitotic and meiotic study in a population of sperm donors; mark "Cum Laude", directed for Dr. Josep Egozcue Cuixart in February 1986

    Examination of degree-dissertation in March 1977

    Licensed in Science Biology, Universitat Autònoma de Barcelona (UAB). From October 1971 to June 1976

     

    Professional, scientific and educational background:

    Experience in cytogenetic analysis, diagnosis and research, started in the Department of Cell Biology of the UAB since 1977, teaching and research under direction of Dr. Egozcue.

    Collaborator in the development of the Training Karyotypes app

    Assistant professor of practical classes in the Department of Cell Biology and Physiology Faculty of Sciences, and Faculty of Medicine, between the courses 1974-75 (being a student) until 87-88. (UAB).

    In October of 1988, to organize, and to direct, the Cytogenetic Service of the laboratory Cerba Int. S.a.e. (Sabadell, Barcelona) directed by Dr. Juan Manuel Hernández Soler.

    Since January 1998, and until the present time, it is responsible for the cytogenetic diagnoses performed in our maternal and child hospital (HSJD).

    Professional trajectory focused on human cytogenetic.

  • Isabel_Plensa

    Isabel Plensa Nebot - Postdoc - associate researcher

    Facultative in Cytogenetic Laboratory

    Section of Genetic and Molecular Medicine, Hospital Sant Joan de Déu Barcelona

    From 2012 to present

    She has participated as a speaker in national and international congresses in the field of Pediatric Genetics and Endocrinology; she's the author of the creation, design and development of the app Training Karyotypes (http://trainingkaryotypes.com/) and various scientific publications.

     

    Superior technician in Laboratory of Clinical Diagnostic

    From 1998 to 2012

    Cytogenetic and Molecular Biology Laboratory in the Section of Genetic, Hospital Sant Joan de Déu

    From 1987 to 1998

    Blood bank in Hospital Sant Joan de Déu.

    From 1984 to 1987

    Emergency and Hormonal Laboratory in Hospital Sant Joan de Déu

     

    Doctoral Thesis in Biology

    Specialised in Biochemistry

    2003

    Thesis title: "Congenital Adrenal Hyperplasia by default in the 21-hydroxylase enzyme: characterization by the HLA system and contribution of molecular biology". Mark "Cum Laude"

    Department of Biochemistry and Molecular, University of Barcelona, and Section of Endocrinology, Hospital Sant Joan de Déu

     

    Degree thesis in Biology

    Specialised  in Biochemistry and Molecular Biology

    1989

    Thesis title: Association between Chronic Lymphocytic Thyroiditis and Type-I Diabetes Mellitus: Relation to the HLA-System. Mark Excellent

    Department of Biochemistry and Physiology, University of Barcelona, and Section of Endocrinology, Hospital Sant Joan de Déu

     

    Licensed in biology

    Itinerary of Fundamental Biology: Genetics, Microbiology and Biochemistry

    From 1979 to 1984

    Faculty of Biology, University of Barcelona.

  • Maria Rodriguez Sanz - Postdoc - associate researcher

    rodriguezs@fsjd.org

  • elena_juarez_2016

    Elena Juárez Escoto - PhD researcher

    Predoctoral student.

    Doctoral program in Biomedicine (University of Barcelona)

    From 2016 to present

    Thesis title: The landscape of axonal biology and membranes associated with mitochondria in neurogenetic diseases

    Neurogenetics Laboratory and Molecular Medicine, San Juan de Dios Foundation, Barcelona.

     

    Personal Researcher in Training.

    Masters in  Neurosciences

    From 2015 to 2016

    Final Master work: n vivo evaluation of pro-depressive effects of siRNAs against glial glutamate transporters in mouse prefrontal cortex. IIBB-CSIC-IDIBAPS (Barcelona)

    University of Barcelona

     

    Training Course Research Staff Members of Experimental Animals.

    From April to June 2015

    Centres Científics i Tecnològics de la Universitat de Barcelona

     

    Degree in Biochemistry and Biomedical Sciences

    From September 2011 to July 2015

    School of Biological Sciences, University of Valencia.

     


    ejuarez@fsjd.org

  • Abraham José Paredes Fuentes - PhD student

    ajparedes@fsjd.org

  • Abel Sola 2017

    Abel Sola Bacaicoa - PhD Student

    Predoctoral student

    Doctoral program in Biomedicine - University of Barcelona

    From 2017 to present

    Thesis title: The connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model

    Neurogenetics Laboratory and Molecular Medicine Institu de Recerca Sant Joan de Déu, Barcelona.

     

    Masters in Neuroscience

    Title of final dissertation
    Genetics of Parkinson's disease: LRRK2 gene - functional validation of variant p.Q1111H. Neurogenetics Laboratory and Molecular Medicine Institu de Recerca Sant Joan de Déu, Barcelona.

    University of Barcelona

     

    Degree in Biochemistry and Biomedical Sciences

    September 2012 - July 2016

    Faculty of Biology, Universitat de València

    asola@fsjd.org

  • Daniel_castillo_2016

    Daniel Castillo Mestres - Technician

    dcastillo@sjdhospitalbarcelona.org

  • Jordi_Genoves

    Jordi Genovès Escarré - Technician

    jgenoves@hsjdbcn.org

  • Montserrat_Naudo

    Montserrat Naudó Lahoz - Technician

    mnaudo@sjdhospitalbarcelona.org

  • Paola_Pacheco

    Paola Pacheco Fernández - Technician

    Studying Biology Degree

    September 2014 News

    Faculty of Biology, University of Barcelona.

     

    Hospital Pharmacy Course

    January 2014-April 2014

    Institut Bonanova, Passeig de la Circumval·lació, 8, 08003, Barcelona.

     

    Superior Technical Laboratory clinical diagnosis (CFGS)

    September 2012-July 2014

    Institut Bonanova, Passeig de la Circumval·lació, 8, 08003, Barcelona.

    Email: ppacheco@hsjdbcn.org

    ppacheco@sjdhospitalbarcelona.org

  • Johanna Troya Balseca - Technician

    jtroya@sjdhospitalbarcelona.org

  • Arola Altimir Esquís - Assistant researcher

    aaltimir@fsjd.org

  • Carmen María Armada Sánchez - Assistant researcher

    carmada@fsjd.org

  • Nuria_Brandi

    Nuria Brandi Tasau - Assistant researcher

    Superior technician in research, University of Barcelona

    Human Molecular Genetics - Genetics Service and Molecular Medicine

    From 2011 to present

    Biochemistry and Genetics Laboratory Rett San Juan de Dios Hospital where she has been assigned the square entirely since March 2012.

     

    Doctoral Thesis in Biology

    Specialised in Biochemistry

    2010

    Thesis title: Oxidative stress in the preterm infant and pediatric HIV infected patients. Rated Excellent Cum Laudae.

    Department of Physiology, University of Barcelona and Hospital San Juan de Dios.

     

    Degree thesis in Biology

    Specialised  in Biochemistry and Pharmacology

    From 1984 to 1986

    Thesis title: Activators and Inhibitors fibrinolysis. Outstanding rating.

    Department of Pharmacology and Experimental Pathology C.S.I.C.

     

    Licensed in biology

    Itinerary of Fundamental Biology: Genetics, Microbiology and Biochemistry

    From 1979 to 1984

    Faculty of Biology, University of Barcelona.

    nbrandi@sjdhospitabarcelona.org

  • Maria Camila Egas Casco - Assistant researcher

    mcegas@fsjd.org

  • Antonio F Martínez Monseny - Assistant researcher

    Section of Genetic and Molecular Medicine, assistant of paediatric hospitalization, Hospital Sant Joan de Déu.

    Facultative assistant and collaborated in Institute of Pediatric Research (IRP).

    From 2015 to present

     

    2016: Course of human genetic. University of Valencia

     

    Specialist in Paediatrics, Hospital Sant Joan de Déu

    From 2011 to 2015

     

    2015: Staff rotation in Clinical Genetic. Boston's Children Hospital

    2014: Staff rotation in Genetic Laboratory. Hospital La Fé de Valencia

     

    Licenced in Medicine and Surgery. University of Valencia

    From 2004 to 2010

    afmartinez@sjdhospitalbarcelona.org

  • Ainhoa Pascual Alonso - Assistant research

    apascuala@sjdhospitalbarcelona.org

  • Alba Pascual Rodríguez - Assistant researcher

    apascualr@fsjd.org

  • Silvia_Vidal

    Silvia Vidal Falcó - Assistant researcher

    Predoctoral researcher

    Human Molecular Genetics

    From September 2015 to present

    Thesis title: Clinical and molecular characterization of Rett syndrome: elucidating the unresolved cases.

     

    Genomic Data Analysis

    Genomics and transcriptomics modules

    February 29 to March 4, 2016

    Prince Felipe Research Centre, Valencia

     

    Sequence Analysis NGS

    Introduction to the analysis of NGS

    16-20 February 2015

    Lifelong Learning Centre, Universitat Politecnica de Valencia

     

    Master in genetics and genomics

    Specialised in genetics and human genomics

    From October 2013 to September 2014

    Faculty of Biology, University of Barcelona.

     

    Degree in Biology

    Itinerary of Molecular Biology, Cell and Systems

    From September 2008 to July 2013

    Faculty of Biology, University of Barcelona.

    svidal@sjdhospitalbarcelona.org

  • Clara Xiol Viñas - Assistant researcher

    cxiol@sjdhospitalbarcelona.org