GENETIC THERAPY
The human body requires billions of new protein molecules –
nearly 50,000 different kinds – to function correctly. These
proteins must be produced in specific quantities, at certain
times and in precise places.
When this process is off track, one’s health can go
seriously awry. At Texas Children’s Heart Center, the
genetics of heart disease is an increasingly important
focus.
Scientists
there are discovering the DNA that creates these proteins
often has errors; if left uncorrected, the errors result
in disease and disorders. Early detection is important.
The most exciting hope is gene-based
therapy. Among the bright group of scientists leading
the wave of genetic breakthroughs is
Dr. Jeffrey Towbin,
director of the Phoebe Willingham Muzzy Pediatric
Molecular Cardiology Laboratory, chief of pediatric cardiology and director of cardiomyopathy and treatment services at Texas Children's
Hospital.
Dr. Towbin has participated in molecular analysis in pediatric
cardiology genetic research since the lab's inception in 1989 at Texas Children’s Heart Center.
The laboratory now is part of the
International Center
for Cell and Gene Therapy, a partnership between Texas
Children’s,
Baylor College of Medicine and
The Methodist
Hospital.
“In
the last five years or so, we have made important discoveries
about the underlying genetic causes of heart disease in
kids and adults,” explained Dr. Towbin.
“Our focus has been a combination of understanding
the underlying genetic mechanisms of these diseases, generating
good diagnoses and tailoring our therapy, which may be
based on the genetic defect.”
Dr. Towbin’s laboratory has provided understanding
of inherited cardiomyopathies, such as familial hypertrophic
cardiomyopathy, familial dilated cardiomyopathy and inherited
arrhythmias due to Long Q-T syndrome and idiopathic ventricular
fibrillation (IVF). All are major causes of sudden cardiac
death.
Dr. Towbin pointed out that understanding the gene defect
helps in choosing a more effective medicine to treat the
functioning of a particular protein, instead of simply
treating the symptoms.
The next level of interest in the Muzzy
Laboratory is examining the genes that cause congenital
heart disease.
Once the genetic basis for heart disorders is understood,
it could be possible to deliver a corrected version of
the errant gene into the body before the defect occurs.
Getting the gene back on track allows the genetic mechanism
to operate smoothly.
Identifying genetic causes for cardiac defects makes it
easier to identify people who may be at risk or predisposed
for certain disorders. This would allow therapies to be
applied earlier, possibly enhancing their effectiveness.
