The European Concerted Action Project On Genetic Hearing Impairment European Concerted Action : PL950353

The project officially starts on April 1996

Project coordinator: Alessandro Martini, MD
Associate Professor of Audiology
University of Ferrara
Audiologia- Clinica ORL
Corso Giovecca 203
tel. +39.532.295249
fax +39.532.295887

the documents were updated on : September 3, 1997

These pages are maintained by :
Stavros Hatzopoulos and Manuela Mazzoli

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AIM:

The project deals with the problem of standardising clinical in-depth family and phenotypic studies to collect European epidemiological data and promote basic molecular genetic and gene mapping methods in this field.

The specific objectives of the project are:
  • a) Establishment of common terminology and definitions.
  • b) Establishment of common protocols for data collection and phenotypic characterisation.
  • c) Classification of families based on the characteristics of hearing impairment, vestibular function, inner ear malformations and other phenotypic criteria, and genetic transmission.
  • d) Edition of an Infoletter with update information of gene localisation studies, candidate genes, animal model studies, most relevant pedigrees, list of laboratories and clinical centres (Who is who? Who is working on what?), publication of protocols, meetings schedule and reports.
  • e) Co-ordination of the multidisciplinary approaches: Audiologists, Otologists, Otoneurologists, Maxillo-Facial Surgeons, Ophthalmologists, Clinical Geneticists and Genetic Laboratories for DNA studies.
  • f) Promotion of the co-operation between clinicians and molecular geneticists in order to obtain sample families for mapping and cloning of as many genes responsible of hearing impairment disorders as possible.
  • g) Investigate the genotype-phenotype correlation.
  • h) Provide European epidemiological data about genetic hearing impairment (the frequency of the occurrence of mapped genes, and sex distribution if genes have been identified in the meantime).
  • i) Provide the European research with a clinical data bank and a list of researchers in the field in order to facilitate diagnosis and expert medical counselling.
This project will be carried out dividing centres members into study subgroups, which although interactive and in connection with one another, have the task of developing a particular line of research. The subgroups are:
  • 1. Study group on terminology, definitions and hearing assessment.
  • 2. Study group on epidemiology of genetic hearing impairment.
  • 3. Study group on vestibular involvement.
  • 4. a. Study group on cranio-facial malformation and hearing impairment.
  • b. Study group on otological malformations and connected surgical problem.
  • 5. Study group on identification of genes.



LIST OF PARTICIPANTS

1. Study group on terminology, definitions and hearing assessment Group Leader: S. Dafydd G. Stephens, M.D.
  • Ankara (TR), Fakultesi, Ankara University Tip.
  • Brescia (I), Clinica ORL, UniversitÓ di Brescia.
  • Dublin (EIR), NRB Audiology Service
  • Ferrara (I) Servizio di Audiologia, UniversitÓ di Ferrara.
  • Kuopio (SF) Dept. of ORL, University of Kuopio.
  • London (UK), Institute of Child Health, University of London
  • Ljubljana (SL), ENT Dept., Ljubljana University.
  • Cardiff (UK), Welsh Hearing Inst., University Hospital of Wales.
  • Manchester (UK), Centre of Audiology, Edu. of Deaf and Speech Pathology, University of Manchester.
  • Montpellier (F), ENT Dept., UniversitÚ de Montpellier.
  • Bronx, NY (USA), Dept. ORL, Montefiore Medical Center.
  • Palermo (I), Cattedra di Audiologia, Istituto di Biocomunicazione.
  • Torino (I), Cattedra di Audiologia, UniversitÓ di Torino.


2. Study group on epidemiology of genetic hearing impairment. Group Leader: Agnete Parving, M.D., Dr. Med. Sci.
  • Athens (GR), ENT Dept., A. Kyriakos Children's Hospital.
  • Bari (I), Centro di Audiologia e Otologia, UniversitÓ di Bari.
  • Berlin (D), Department of Audiology and Phoniatric, Benjamin Franklin Medical Center.
  • Budapest (H), ENT Dept., Semmelweis University.
  • Napoli (I), Audiology Dept., Policl. Mater Domini, UniversitÓ di Napoli
  • Copenhagen (DK), Audiology Dept., University of Copenhagen, Bisperbjerg Hosp.
  • Copenhagen (DK), ENT Dept., University of Copenhagen, Righospitalet.
  • Cluj (R), ENT Department, University of Medicine and Pharmacy of Cluj.
  • Ferrara (I) Servizio di Audiologia, UniversitÓ di Ferrara.
  • Helsinki (FIN), Dept. of Audiology, Helsinki University Central Hospital.
  • Insbruck (A), Stimm und Sprachstorungen, University Klinik
  • Lisboa (P), Servicio de Otorrinolaringologia, Ospital De S. Maria.
  • Lyon (F), Dept. of ORL, Hopital Edouard Herriot.
  • Lund (S), Audiological Department, University Hospital.
  • Nottingham (UK), MRC Inst. of Hearing Research.
  • Oulu (FIN), Department of Otolaryngology, University of Oulu.
  • Padova (I), Servizio di Audiologia e Foniatria, UniversitÓ di Padova.

3. Study group on vestibular involvement. Group Leaders: Claes Moller and Linda Luxon
  • Ferrara (I), Servizio di Audiologia, UniversitÓ di Ferrara
  • Fuerth (D), EUROMED Fuerth.
  • Linkoping (S), Audiology Dept., University of Linkoping.
  • London (UK), Inst. Laryngol. and Otol., University College London Med. School.
  • Madrid (ES), Servicio ORL, S.Carlo Hospital Universitario, Universidad de Madrid
  • Nijmegen (NL), Department of ORL, University Hospital Nijmegen.
  • Syracuse, NY (USA), Department of Otolaryngology, SUNY Health Science Center.

4a. Study group on otological malformations and connected surgical problems. Group Leader: C.W.R.J. Cremers
  • Colombiers (F), Clinique J. Causse
  • Edegem (B), ENT Dept., University Clinic Antwerp.
  • Friburg (D), ENT Dept., University of Friburg.
  • Nijmegen (NL), Department of ORL, University Hospital Nijmegen.
  • Roma (IT), Istituto di Clinica ORL, UniversitÓ La Sapienza.
  • Venezia (I), Dept. ORL, Ospedale Civile di Venezia.

4b. Study group on cranio-facial malformations and hearing impairment. Group Leader : Elisa Calzolari
  • Ferrara (I), Inst. Medical Genetics, University of Ferrara.
  • Ferrara (I), Maxillo-facial Surgery Clinic, University of Ferrara.
  • Madrid (E), ECEMC, Universidad Complutense.
  • Munchen (D), Genet. Bertatunstelle-Kinderzentrum.
  • Villejuif (F), Gene Mapping and Clinical Research, Inserm Villejuif.

5. Study group on identification of genes. Group Leader: Andrew P. Read, M.D.
  • Antwerp (B), Dept of Medical Genetics, University of Antwerp.
  • Tampere (FIN), Dept. Genetics, Institute of Biomedical and Life Sciences
  • Helsinki (FIN), Dept. of Medical Genetics. University of Helsinki.
  • Iowa City (USA), ENT Dept., University of Iowa and Clinics.
  • Leeds (UK), Dept. of Clinical Genetics, St. James' Hospital.
  • Leicester (UK), Clinical Genetics Unit, Leicester Royal Infirmary.
  • Lisboa (P), Otorrinolaringologia, Hospital de S. Maria.
  • Lyon (F), Service de Genetique Medicale, Hotel-Dieu.
  • London (UK), Dept. Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School.
  • London (UK), Inst. of Child Health, University of London.
  • Madrid (ES), Unidad Genetica Molecular, Hosp. Ramon y Cajal.
  • Manchester (UK), Medical Genetics Dept., St. Mary's Hospital.
  • Manchester (UK), Cell and Structural Biology, School of biological sciences, University of Manchester.
  • Milan (I) Istituto Nazionale Neurologico Carlo Besta.
  • Milan (I), Telethon Inst. of Genetics and Medicine, S. Raffaele Hospital.
  • Nijmegen (NL), Dept. Human Genetics, University Hospital Nijmegen.
  • Nottingham (UK), MRC Inst. of Hearing Research.
  • Omaha, (USA), Boys Town National Research Hospital.
  • Paris (F), Human Molecular Genetics Dept., Pasteur Institute.
  • Paris (F), Dept. Pediatric Genetics Hosp. Enfants Malades.
  • Roma (I), Dept. SanitÓ Pubblica e Biologia Cellulare.
  • Tromso (N), Dept. Medical Genetics, University Hospital.
  • Tubingen (D), Universitaats Tubingen
  • Wien (A), Dept. of Embriology, Universitaet Wien.


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