Laura
B. K. Herzing, Ph.D.
Assistant Professor, Dept. of Pediatrics
Northwestern University Feinberg School of Medicine
Program in Human Molecular Genetics
Children's Memorial Research Center (CMRC)
To contact Dr. Herzing:
2300 Children's Plaza Box 211
Chicago, IL 60614
Phone: (773) 755-6354
Fax: 773) 755-6345
e-mail:l-herzing@northwestern.edu
Dr. Herzing's website
PubMed Reference Lookup
Research Interests:
Dr. Herzing's work focuses on identifying epigenetic changes in gene expression
that underlie neurodevelopmental disorders such as autism, Angelman and Rett
syndromes, and epilepsy. Using both patient samples and mouse models of these
disorders, her goal is to identify when the critical expression changes occur,
and whether their effects can be reversed or improved. Rett Syndrome (RS)
is a progressive neurologic disorder that has many clinical features in common
with autism and Angelman syndrome (AS). Like children with autism, girls with
RS often initially appear to develop normally, then lose or fail to gain milestones.
A few children born with AS carry a mutation in MeCP2, the gene associated
with RS, although most carry a deletion of the UBE3A gene. Dr. Herzing has
demonstrated that there is also a developmental and tissue-specific alteration
in expression of Ube3a and adjacent genes in RS and RS mouse models, which
could explain the phenotypic overlap between AS, RS and autism. These genes,
several of which are imprinted, are also duplicated in as many as 2% of patients
with autism, and Dr. Herzing has shown that these patients exhibit enhanced
expression of these genes. Working on the hypothesis that misregulation, rather
than mutation, of the candidate UBE3A, ATP10C and GABRB3 genes leads to autism,
Dr. Herzing is using transgenic and RNAi technologies to lower or elevate
the expression of these genes in mouse models. Careful assessment of resultant
behavioral alterations will permit determination of the role such candidate
genes have in the development of autism. These animals will also serve as
vehicles to validate treatments and therapies for autism in a model system
based on human etiology.
Many children with these disorders also develop seizures, and epilepsies in
general remain a major childhood medical concern. The development of most
pediatric epilepsies is likely influenced by a change in expression of ion-channel
genes. Dr. Herzing is working to expand a collaboration with The University
of Chicago and Milwaukee Childrens Hospital, to facilitate ion-channel gene
expression studies in tissue recovered from patients undergoing epilepsy surgery.
Results from these studies will inform the development and interrogation of
animal models for seizure development, and will help define the mechanisms
underlying idiopathic epilepsy and seizures associated with syndromes and
disorders such as autism, RS and AS.