The major focus of our laboratory is to study the muscular dystrophies,
a series of progressive disorders of striated muscle that lead to the
breakdown of muscle integrity. More recently, our research efforts have
expanded to other complex genetic diseases including autism and
Since our discovery of the Duchenne-Becker muscular dystrophy gene
dystrophin, we have taken two approaches to studying these diseases. The
first is to unravel the normal function of the dystrophin-associated
protein complex and determine how alteration of genes encoding members
of this complex causes the disease. The second is to develop different
lines of therapy for patients with muscular dystrophy.
These efforts include stem-cell-based therapy and drug-discovery
strategies to develop pharmaceutical-based approaches. We are
identifying potential drug targets by characterizing genes and microRNAs
that are upregulated or downregulated in the disease, and through drug
screening efforts in zebrafish deficient in the dystrophin gene.
The muscles of dystrophin-deficient zebrafish embryos appear patchy
under polarized light (d), characteristic of muscle tearing.
Interstitial cystitis (IC)
is a complex genetic disorder affecting nearly 1 in 2,000 people in the
United States. We have identified six families in which IC is
segregating, and have found five different genetic loci that are
significantly or suggestively linked to the disease. We are now
sequencing the genes in these regions to find the causative mutations in
these families. Identification of these genes should highlight
potential disease pathways and might reveal insights into therapy.
For more information, click here.
is a developmental disorder that most likely involves genes expressed
in the brain and probably has both genetic and environmental causes.
Because many genes expressed in the central nervous system are also
expressed in whole blood, we reasoned that we might be able to find
signatures of gene expression that would allow us to categorize patients
with autism and possibly identify causative genes. We can now predict
whether a gene expression profile is derived from a blood sample taken
from an autistic child or from a control. We are expanding these studies
to many more patients and controls, in the hopes of developing a
diagnostic test for autism.
For more information, click here.
About Louis Kunkel
Dr. Kunkel received his PhD degree in biology from the Johns Hopkins
University and completed postdoctoral fellowships at the University of
California, San Francisco and at Children's Hospital Boston.
For the past 15 years, Dr. Kunkel has led Children's Genetics Division,
which consists of more than fifty individuals. Dr. Kunkel is personally
involved in each project in his own laboratory and this helps to assure
the fulfillment of his scientific objectives.
Dr. Kunkel is a member of the National Academy of Sciences. He
currently holds appointments as Director of the Program in Genomics at
Children's Hospital Boston; Investigator, Howard Hughes Institute;
Professor of Pediatrics and Genetics, Harvard Medical School, Boston;
and Director of the Sequencing/Genotyping, Expression Array and FACS
Sorting Core Facilities at Children's Hospital Boston.
Dr. Kunkel has authored 197 journal articles and 20 book chapters. He
has received 22 awards and honors for scientific leadership and
achievement including membership in the National Academy of Sciences,
The Gairdner Foundation International Award 1989, Silvio O. Conte decade
of Brain Award 1991, the MDS's S. Mouchly Small Scientific Achievement
Award 1999, the Charles A. Dana Distinguished Research in Neuroscience
Award, and the William Allan Award for distinguished service in human
genetics in 2004.