[ASC-media] Embargoed Release
s.lucia at victorchang.unsw.edu.au
Fri Sep 2 09:06:26 EST 2005
The Victor Chang Cardiac Research Institute
Emabargoed until 11am, Sunday 4 September 2005
New technology to keep up with complex disease
Scientists are using new technologies to knock out genes at specific times
and locations in the body in an effort to better understand and treat
complex genetic diseases, including heart disease and a deadly form of
Professor Mario Capecchi, from the University of Utah, USA, pioneered using
the mouse as a model for human genetic disease and co-invented the initial
technology for knocking genes out in mice.
"Many diseases, including some heart diseases and cancers, are caused by
defective genes. This means that there is a defect in the blue print that
controls how our bodies are built and how they function," Prof. Capecchi
said. "As our understanding of disease increases, including all of its
complexities, so will our ability to generate more effective therapies."
Using new technology, Professor Capecchi has recently created a mouse model
for a rare but deadly childhood cancer, alveolar rhabdomysosarcoma, that
claims eighty percent of sufferers within five years of diagnosis. The new
technology allows scientists to knock-out a single gene with high precision
and without affecting any of thousands of other genes. Such gene knock-out
studies are aimed to help our understanding of complex disease in people.
"To understand such diseases, technology needs to keep abreast of its
complexity so that the design of animal model systems truly reflects in
detail the same disease in humans."
In the past, scientists were limited to knocking out genes in every cell of
the body. They disrupted specific genes in the developing embryo, before
birth, by completely knocking it out of all cells in every tissue and organ
in the body. However many genes have multiple functions in the embryo and
later in the adult. If the gene disruption compromises the mouse during
early development, then that would prevent study of the gene's function in
"The new technology allows us new freedoms by specifically allowing the
knock-out of genes at any time during development, or after development in
specific tissue, almost down to the cellular level," Prof. Capecchi
"In alveolar rhabdomysosarcoma, we knew that a specific gene was generated
that resulted in the initiation of the disease. In the past researchers
tried to create a mouse model using the old technique, but failed. However,
with the new technology we waited until after birth to generate the culprit
gene in the muscles only. Doing so allowed us to develop a mouse model of
Now that the model of alveolar rhabdomysosarcoma has been developed,
scientists can begin the task of trying to understand how this gene product
causes the disease with the ultimate hope of developing specific drug
therapies that will control this devastating disease.
Prof. Capecchi is presenting his findings today at the 15th International
Society of Developmental Biologists Congress in Sydney. Organised this year
by senior scientists from the Victor Chang Cardiac Research Institute
(VCCRI), which is a research centre for excellence in heart development and
adult cardiac stem cell research.
For further information and interview opportunities with Prof. Capecchi at
the Congress, please contact Samantha Lucia, Communications and Marketing
Manager, Victor Chang Cardiac Research Institute.
Tel: 61 02 9295 8100 Mobile: 0415 140 595 E-mail:
s.lucia at victorchang.unsw.edu.au
Marketing and Communications Manager
Victor Chang Cardiac Research Institute
Ph: 61 2 8382 3415
Fax: 61 2 8382 3585
Mobile: 0415 140 595
email: s.lucia at victorchang.unsw.edu.au
Level 4, 376 Victoria Street
Darlinghurst NSW 2010
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