Currently Department of Medical Genetics has one research project: "Creatine transporter defect - a new syndrome with mental retardation" by Dr Kristiina Avela as an principal investigator. The collaborators are Irma Järvelä and Katri Kantokorpi (University of Helsinki), Esa Hämäläinen and Ursula Turpeinen (HUSLAB) and Leena Valanne (HUS-Röntgen).

We are participating in the following research projects, the collaborator is in parenthesis:

• Hereditary polyneuropathies in Finland (Sari Kiuru-Enari, University of Helsinki)
• PEHO syndrome (Anna-Elina Lehesjoki, University of Helsinki)
• Marinesco-Sjögren syndrome (Anna-Elina Lehesjoki)
• A search of a mutation causing aorta-aneyrysm in a Finnish family (Teppo Varilo, The National Institute for Health and Welfare)
• A study of a patient with tetrafokomelia and de-novo translocation (Teppo Varilo)
• Balanced translocations and inversions in Finland (Teppo Varilo)
• Dominatly inherited pneumothorax (Hanna Tapanainen, Univ. of Hki/ for thesis)
• Study to reveal the underlying genetic causes of mental retardation syndromes (Anita Rauch, Friedrich-Alexander-University in Erlangen, Nürmberg)
• Clinical and molecular studies of patients with Williams syndrome and with related disorders (May Tassabehji, University of Manchester)
• Variant Cohen syndrome (Alexander Waite, University of Manchester)

 12.10.2011/Lt