3
Contributions of
Dr. Mario Capecchi
By: Ann Elmer
Biology 1010-004
3/16/2012
On a beautiful, warm summer day in Utah, a few friends loaded up four wheeled allterrain vehicles (ATV’s) and headed for open space to enjoy a fun filled day. The morning was
great with familiar trails and excitement. After lunch, with helmets on, the exploration went
another direction. Slower speeds on unfamiliar territory did not prevent the devastating accident.
A rider was thrown from his ATV and a spinal cord injury occurred. The active 25 year old
became a paraplegic incapable of ever walking again.
Spinal cord injury, diabetes, heart disease and many other ailments and diseases are
scientifically reviewed with a vision that ailing organs and tissues might become repaired. This
vision can become a reality. An important contributor to genetic advancement was Dr. Mario
Capecchi.
Born in Verona, Italy as a result of a passionate love affair between an officer in the
Italian army and a beautiful poet, Capecchi had a troubled childhood. His parents were not
married. His father was abusive and his mother was imprisoned as a political prisoner for five
years. When Capecchi was just four years old, he was left to live on the on the streets of Italy.
After his mother’s release, she found Capecchi in a hospital on his ninth birthday. After their
reunification, they set sail to America.
Upon arriving in America, Capecchi and his mother lived in Pennsylvania with his aunt
and uncle, who was a brilliant physicist. Capecchi learned quickly and admits that academics
came easily. He studied at Antioch College then earned a doctorate degree from Harvard
University. Ultimately, he joined the University of Utah as part of a newly formed department
with very talented scientists and high potential. Capecchi provides a message of hope as quoted
from his autobiography, “The intrinsic drive to make a difference in our world is not easily
quenched and that given an opportunity, early handicaps can be overcome and dreams achieved.”
Capecchi’s achievements and contributions are many. He was part of the molecular
biology revolution. He realized the most complex biological phenomena could be explained in
molecular terms. He observed simple organisms that were mirrored in more complex ones and
determined that genetics and molecular biology could be broken down into workable subunits.
With his profound understanding of genetics, he established a way to inactivate targeted genes in
mice embryo-derived stem cells, called “knocked-out” mice. Through successful breeding of
“knocked- out” mice, gene functions and mutations can be studied. Currently, researchers
throughout the world use this method. Further contributions include neural development in
mammals, human genetic diseases, gene therapy, homologous recombination and programmed
genomic rearrangements in the mouse.
Dr. Capecchi was the recipient of the Noble Prize in Physiology or Medicine in 2007 for
his “knocked-out” mice development. Other researchers were successful in getting cells to
accept DNA fragments, however, the DNA was destroyed by enzymes in the cytoplasm. In
about one in a million cells, the DNA reached the cell’s nucleus where it could be expressed.
Capecchi realized the limiting barrier was getting the DNA into the nucleus, so he invented a
needle that would provide an injection of DNA directly into the nucleus. This process presented
another discovery called homologous recombination. In some cells, when DNA was injected,
the DNA exchanged the related segment of DNA from the host cell. This means the injected
DNA can replace the cell’s own gene.
The study of genes was revolutionized with Capecchi’s discovery. Numerous subjects
could be injected with a mutated DNA into a cell which provided researchers a way to determine
the function of that specific gene and diseases associated with it. This process is called gene
targeting and has benefited all types of life science.
In the medical field, this was classified as a breakthrough discovery. If there is a
defective cell, the DNA from a good cell can be replicated with the goal of replacing the
imperfect cell. Continuing advancement of this theory brings hope to the spinal cord injured
male from the ATV accident and many, many others with ailing genes. Instead of a confined life
or eminent death, Dr. Capecchi’s contributions allow new life in the years to come.
Bibliography
"Autobiography." Mario R. Capecchi -. Web. 09 Mar. 2012.
<http://www.nobelprize.org/nobel_prizes/medicine/laureates/2007/capecchi
autobio.html>.
"Dr. Mario Capecchi." Mario Capecchi Laboratory at the University of Utah. Web. 09 Mar.
2012. <http://capecchi.genetics.utah.edu/capecchi.html>.
"HHMI: Nobel Laureates - Mario Capecchi." Howard Hughes Medical Institute. Web. 09 Mar.
2012. <http://www.hhmi.org/research/nobel/capecchi.html>.
"Mario Renato Capecchi Mario Renato Capecchi." BookRags. BookRags. Web. 09 Mar. 2012.
<http://www.bookrags.com/biography/mario-renato-capecchi-wog/>.
"Related Websites." Neuroscience Program. Web. 09 Mar. 2012.
<http://neuroscience.med.utah.edu/Faculty/Capecchi.html>.
Reflection
General education classes have undoubtedly broadened my academic perspective. The
most influential classes for me have been in science. I feel science and biology have been the
least appealing to take but the most beneficial in broadening my education.
The challenge I found in preparing this report was to limit the information I learned. I
selected Dr. Capecchi because he is a current biologist in Utah. What I realized with the
research is that he overcame a difficult childhood and progressed to greatness. I found his
autobiography intriguing and his insights profound. I appreciated his statement of hope and was
inspired by his ambition to discover new information.
As a non-traditional student, I realized there is so much to not only learn and apply but to
contribute as well. Included in my goals of earning a degree, I hope my education and
development can contribute to the lives of others also.