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Alpha-1 international registry

Objective

Alpha-1-antitrypsin deficiency (AAD) is a rare inherited disorder on chromosome 14q32.1 that predisposes to liver, vascular but especially early onset, rapidly progressive lung disease. As recommended by the WHO in 1996 in Geneva, we have established an international registry in January 1999 and developed a simple database and DNA bank, now containing over 300 European patients with AAD. The proposed Action is to execute a study using genome-wide linkage and association studies in DNA samples, to find other genetic risk factors explaining why some smokers with the inherited deficiency develop lung emphysema, while others with the same smoking history don’t. Furthermore, we aim to use existing European databases on air pollution to find correlations with clinical data and/or new genetic information in a two year longitudinal study with AAD patients. Funding is requested to enable the logistics around the two proposed studies.

Funding Scheme

CON - Coordination of research actions

Coordinator

UNIVERSITY OF BIRMINGHAM
Address
Edgbaston
B15 2TH Birmingham
United Kingdom

Participants (9)

ASSOCIATION HOSPITALIERE ETTERBEEK-IXELLES
Belgium
Address
Rue Jean Paquot 63
1050 Bruxelles
INSTITUT CATALA DE LA SALUT
Spain
Address
Paseo Valle De Hebron 119-129
08035 Barcelona
IRCCS POLICLINICO SAN MATTEO - ISTITUTO DI RICOVERO E CURA A CARATTERE SCIENTIFICO
Italy
Address
Via Taramelli 5
27100 Pavia
LUND UNIVERSITY
Sweden
Address
Soedra Foerstadsgatan 101
205 02 Malmoe
OSTERR-GESELLSCHAFT FUER LUNGENERKRANK U. TBC
Austria
Address
Alserstrasse 4
1090 Wien
PHARMANET LTD
United Kingdom
Address
One Silk Street
EC27 8HQ London
UNIVERSITY HOSPITAL OF ZUERICH
Switzerland
Address
Raemistrasse 100
8091 Zurich
UNIVERSITY OF COPENHAGEN
Denmark
Address
Niels Andersens Vef 65
2900 Hellerup
UNIVERSITY OF OTAGO
New Zealand
Address
Riccarton Avenue 2
8001 Christchurch