During the past few months, several critical and positive events have taken place for the MSUD research project.

We hope to obtain funding from the National Institutes of Health (NIH) to support this project on a long-term basis. After discussion with several very experienced researchers at the University of Pittsburgh, we arrived at the consensus that we should broaden the scope of the MSUD project. We feel that doing so will improve our chance of getting funding from the NIH, and ultimately developing an effective treatment for this disease. In addition to gene therapy, it was suggested that we should consider other approaches to cure MSUD. Accordingly, our revised approach for the treatment of MSUD in the mouse model now includes:

a) Gene therapy
b) Liver cell transplantation
c) Embryonic cell (ES) transplantation

( l to r) Dr. Gregg Homanics, Kristen Skvorak, Carolyn Ferguson, Dr. Harbhajan S Paul, Gail Sekas, MD, PhD (not pictured Dr. Xiao Xiao)
In light of these developments, we had to push back the gene therapy experiment that we had planned for the Summer of 2005. Since the submission of a major research grant application is planned, we need to obtain additional data to include in the grant application. Additionally, we are in the process of preparing our results to date for peer-reviewed publication in the scientific literature and need additional data on the characterization of these mice for this publication. We have limited availability of MSUD mice to perform all the studies. Most of the mice were used for gathering additional data in support of the NIH grant application and the manuscript. As soon as we gather the critical data, and sufficient mice become available, we will start the gene therapy experiment. The gene delivery vector for the gene therapy experiment has already been prepared and we hope to start this experiment soon.

Another positive development is that a graduate student (Kristen Skvorak) in the Department of Molecular Genetics and Biochemistry at the University of Pittsburgh has chosen to work on the MSUD project for her Ph.D. thesis research. She has already completed several important steps and is now engaged on a full-time basis on the MSUD project. She is very excited about the gene therapy for MSUD. It is very encouraging to see the interest of young persons in the MSUD project.

Researchers at other universities have recently contacted us about our MSUD mouse model. These investigators would like to study other approaches to cure the disease. We are very pleased and are looking forward to our collaboration with these scientists.

Dr. Gerard Vockley has recently joined the Children's Hospital of Pittsburgh as head of Medical Genetics. We had meetings with him and he has agreed to advise us on several aspects of MSUD project. We believe his input will be very beneficial for the success of the MSUD project. Dr. Steve Strom, a professor at the University of Pittsburgh and an expert on liver cell transplantation,is also going to collaborate with us on the MSUD project.

( l to r) Tony Kohl, Herb Foster, Tyler, Jordan, Sandy and Dave Bulcher, Denise Pinskey, Ivan and Mary Kathryn Martin, Wayne and Joyce Brubacher
The use of mouse embryonic stem cell to treat MSUD is being actively planned. This approach has recently been used to cure another genetic disease in mice. We are very encouraged with that study and are eager to try this approach with our MSUD mice.

In summary, although slowly, the MSUD project continues to make progress.

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A Child's Life

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