BARDET-BIEDL SYNDROME Experts

We have collected the completed list of expert related to BARDET-BIEDL SYNDROME using public data available on different databases.

BARDET-BIEDL SYNDROME Experts map



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BARDET-BIEDL SYNDROME Experts list

Pr Philippe BASTIN

 PARIS. FRANCE

  Investigator of research project

  • Research area/topic:
    Molecular bases for the role of IFT172 in ciliogenesis and in ciliopathy
  • Institut Pasteur
  • phba****@***e.fr
Complete Info

Pr Hélène DOLLFUS

 STRASBOURG. FRANCE

  Coordinator of expert centre - Clinical expert - Clinical geneticist - Investigator of research project - Manager of registry - Coordinator of expert centre network

  • Research area/topic:
    Bardet-Biedl syndrome: new genes identification and biological characterization of a new gene BBS10
  • CHU de Strasbourg - Hôpital Civil
    CHU de Strasbourg - Hôpital de Hautepierre
    Faculté de médecine de Strasbourg - Louis Pasteur
  • helene.*******@***u_strasbourg.fr
Complete Info

Pr Bernd WISSINGER

 TÜBINGEN. GERMANY

  Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Director of laboratory

  • Research area/topic:
    RETNET: European Retinal Research Training Network
  • Forschungsinstitut für Augenheilkunde, Department für Augenheilkunde Tübingen
  • bernd.w********@***_tuebingen.de
Complete Info

Pr Brunella FRANCO

 NAPOLI. ITALY

  Investigator of research project - Coordinator of research network

  • Research area/topic:
    EUCILIA: thorough analysis of animal models with mutant BBS, OFD1, or NPHP protein (WP1)
  • TIGEM - Telethon Institute of Genetics and Medicine
  • fra***@***em.it
Complete Info

Dr Alberto LUINI

 SANTA MARIA IMBARO. ITALY

  Investigator of research project

  • Research area/topic:
    EUCILIA: study of the ciliary protein interaction network to establish a hierarchy of temporal and spatial interactions of BBS, OFD1, and NPHP proteins (WP3)
  • Consorzio Mario Negri Sud
  • albert*******@***.it
Complete Info

Pr Magnus NORDENSKJOLD

 STOCKHOLM. SWEDEN

  Coordinator of expert centre - Responsible for diagnostic tests - Investigator of research project

  • Research area/topic:
    Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
  • Karolinska University Hospital, Karolinska Universitetsjukhuset - Klinisk Genetik
    Karolinska Institutet - Solna
Complete Info

Pr Timothy G BARRETT

 BIRMINGHAM. UNITED KINGDOM

  Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry - Coordinator of patient registry network

  • Research area/topic:
    EURO-WABB: EURO-Rare Diabetes Project (coordination)
  • College of Medical and Dental Sciences, University of Birmingham
    Birmingham Children's Hospital NHS Foundation Trust
    Birmingham Children's Hospital NHS Foundation Trust
    Birmingham Children's Hospital NHS Foundation Trust
    University Hospitals Birmingham, New Queen Elizabeth Hospital Birmingham
Complete Info

Pr Philip L BEALES

 LONDON. UNITED KINGDOM

  Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry

  • Research area/topic:
    The relationship of BBS (Bardet-Biedl Syndrome) proteins to the Wnt pathways
  • Great Ormond Street Hospital for Children NHS Trust, UCL Institute of Child Health, University College London
    7th floor, Borough Wing, Guy's Hospital
  • P.Be****@***.ucl.ac.uk
Complete Info

Seongjin SEO

 BERKELEY. UNITED STATES

  Investigator of research project

  • Research area/topic:
    Molecular pathophysiology of retinal degeneration in bardet-biedl syndrome
  • University Of California Berkeley
Complete Info

Yoshikazu IMANISHI

 CLEVELAND. UNITED STATES

  Investigator of research project

  • Research area/topic:
    Illuminating the process of rod outer segment morphogenesis
  • Case Western Reserve University
Complete Info

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All the contact information provided is based on public data available in orpha.net.