Understanding the genetics of cystic fibrosis
When she was a young teen, Ann Harris, PhD, discovered a
book on human genetic diseases, a subject that immediately captured her
imagination. That book set Harris on a course to become one of the world's top
experts on the genetic basis of cystic fibrosis (CF). As director of Children's
Memorial Research Center's
Human Molecular Genetics Program, her research may one day lead to
better outcomes for children with this life-threatening, inherited
disease.
Harris and her research team, who came to Children's
Memorial from Oxford University in England in October 2005, are currently
working on two major CF studies. The first focuses on the regulation of
expression of the cystic fibrosis transmembrane conductance regulator (CFTR)
gene. Regulating gene expression refers to the “genetic switches” that turn the
gene on and off in the right cell type and at the right time. According to
Harris, who holds the Valerie and George D. Kennedy Research Professorship in
Human Molecular Genetics and is also a professor of pediatrics at Northwestern
University's Feinberg School of Medicine, progress in developing a potential
cure for CF through gene therapy has been slow.
However, if the switches that turn CFTR on and off can
be better understood, it may lead to enabling the next generation of gene
therapy to work effectively. At the moment, the main hurdles are failure to
deliver the correct genes to the right place. If this can be overcome, gene therapy
may be
able to reduce or prevent the lung infections that are a common component of
CF.
The Harris lab's other major project is the study of mucins, the major
glycoprotein components of mucous that cover the surfaces of the respiratory,
gastrointestinal and reproductive tracts. By identifying the mechanisms causing
their release, targeted therapies may be developed to alleviate the disease.
“If we can have some impact on preventing the buildup of mucous and the failure
to clear it from the CF airway we'd be doing something immensely valuable,”
says Harris. “This is an outstanding research facility with great
philanthropic support from the community, which is incredibly important,” says Harris. “I
came here because I wanted to do something new and exciting in an
interesting environment where there's sufficient support to be creative. And that's
what I've found.”
Human molecular genetics research at Children's Memorial
Research Center is generously supported by The Joseph and Bessie Feinberg
Foundation, Valerie P. and George D. Kennedy, and the Medical Research Institute
Council.
Children's Memorial Hospital seeks philanthropic funding to enhance its
programs and services. As a proud partner of the Children's Miracle Network
(CMN), all funds raised in the Chicago area through CMN also benefit Children's
Memorial. To find out how your support can help the hospital better serve
children and families, please contact the Children's Memorial Foundation at
773.880.4237 or Foundation@childrensmemorial.org.