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On the suggestion of Hans Zellweger at the University of Iowa and Peter E. Becker at the University of Goettingen, I developed, between 1974 and 1977, an early detection program for Duchenne muscular dystrophy based on a kinetic bioluminescence screening test for creatine kinase in dry blood spots.
Starting in 1977, this test (“CK-Suchtest”) was offered in a voluntary program to all families with newborn boys in Germany performed in my private laboratory near Freiburg (Muscle & Nerve 1986;9:11-23). The parents had to pay privately €15 (after 2002) for the test. Until February 2004, we tested 501,500 boys between 4 weeks and 1 year of age and found 150 boys with Duchenne (1:3,300) and 35 with Becker muscular dystrophy (1:14,300).
From the beginning of my work, it became clear that the families needed detailed information about the disease and the scientific research being done worldwide for finding a therapy for their sons. Therefore, I began soon after the start of our screening program to write research reports in an easylanguage which the patients, their families, and other people without a scientific background could easily understand. I continue writing these reports (and interviews), first in English, then in German, and Ricardo Rojas in Mexico, who has Becker dystrophy, translates them into Spanish (www.duchenne-information.eu). The last report “Research Approaches for a Therapy of Duchenne Muscular Dystrophy”, published in May 2008 (21 pages), will be updated in the spring of 2009 with information from the 2008 Parent-Project meetings in Philadelphia and London and from new publications.
In my presentation at the meeting in Nicosia, I will show how I explained the skipping of exon 51 to our Duchenne community.