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January 03, 2008
A Bedtime Story For 2008
I find there’s always a story behind the story and antisense oligonucleotides, or exon skipping, has a wonderful story. PPMD started in April, 1994. In December 1994, Elizabeth Vroom started Duchenne Parent Project (DPP), in the Netherlands. Elizabeth is a Duchenne mother from Amsterdam. Our first steps together were to develop the Duchenne Muscular Dystrophy Research Center (DMDRC) at the University of Pittsburgh. You now know this as CINRG.
Elizabeth held the first European Duchenne conference in Rotterdam in 1997. Eric Hoffman was one of the speakers and while in Rotterdam he visited the University of Leiden and met a young PhD, Judith VanDeutekom. Elizabeth agreed to provide fellowship support for Judith to work with the group at the DMDRC. Judith spent a year in Pittsburgh and following, returned to Leiden to continue her work.
In 1998 DPP and advisors reviewed Judith’s proposal on antisense oligonucleotides or exon skipping. The proposal reviewed well. This strategy was not new, but rather was under investigation in a number of other areas, just not DMD. The advisors were positive about the work and DPP provided support. This support continued for the next 9 years. Exon skipping worked in the mdx mouse. Judith developed a mouse with human DNA to further investigate the approach. She was positive about the approach. We were all thrilled, though we knew it would take time to translate.
DPP continued to underpin this work. As Judith thought about moving from bench research into the clinic, she recognized the need to partner with Industry. The Dutch company Prosensa and Judith seemed a good fit. DPP was already onboard and expanded their support to include Prosensa. Elizabeth reached out to her sister organizations –Germany (Aktion Benny & Co), Italy (DPP), USA (PPMD), and Monaco – and expanded support for the project.
The DPP investment in development and translation of exon 51 is more than $4 million. Without Elizabeth and DPP, exon 51 skip and this technology may still be in the lab. The New England Journal article confirmed proof of concept in man. The New York Times, on December 27, suggested exon skipping has the potential to become a treatment for a subset of boys with DMD.
Parents can indeed change the world. We are willing to invest in solid research, think outside the box, and stay the course. It is all about building together and buying a lifetime.
Happy New Year!
Posted by ppmd at January 3, 2008 02:00 PM