Research Faculty

Omar Khwaja, MD, PhD

Department Neurology
Hospital Title Director of Rett Syndrome Program
Academic Title Instructor in Neurology
Phone 617-355-5230
Fax 617-730-4657
Email Omar Khwaja
Location 300 Longwood Avenue
Fegan 11
Boston, MA 02115

Research Overview

Our research focuses on two broad areas: development of the brain before birth, and the neurogenetics of disorders of brain development such as Rett syndrome.

In the arena of fetal brain development, we combine advanced fetal imaging techniques with neurodevelopmental outcome studies to understand how the brain's microstructure changes in response to intrinsic genetic susceptibilities and to environmental factors in the womb. One of our specific interests is the development of the corpus callosum, a bundle of nerve fibers that joins the brain's left and right hemispheres. We study congenital brain malformations such as agenesis (complete or partial absence) of the corpus callosum. Some people can have no corpus callosum and not even know about it, while others are severely affected by its absence and still others are affected more subtly. We are learning how to distinguish among these different outcomes by imaging the fetal brain, in addition to studying the genes that coordinate the development of this structure.

Another specific interest is fetal brain development in twins. In particular, we study twin-twin transfusion syndrome, a condition in which identical twins share a placenta in the womb and their blood circulation becomes connected.

In our neurogenetic studies, we investigate a large number of neurologic disorders that have a genetic basis--from gross brain malformations, where anatomic changes are clearly visible on magnetic resonance imaging (MRI), to more complex disorders of brain development where the structural basis is not evident. In recent years, we have become very interested in the neurodevelopmental disorder Rett syndrome. This is a severe form of autism with a strong genetic basis that primarily affects girls.

We believe that Rett syndrome is a disorder that targets synapses--the points of communication between neurons. Collaborating with colleagues at MIT and the Autism Consortium, we have developed a clinical trial for a novel therapeutic agent aimed at improving the cognitive and other symptoms of Rett syndrome, and that takes advantage of our growing molecular understanding of Rett syndrome to try and target the cellular signaling pathways that may be disrupted. We are also collecting information on the natural history of Rett syndrome as part of the national Rare Diseases Clinical Research Network.

For more information on our work in fetal-neonatal neurology, please contact Tomo Tarui, MD, PhD.

For more information on Rett syndrome research, please contact Katherine Barnes.

About Omar Khwaja

Omar Khwaja studied Natural Sciences at the University of Cambridge (UK) as an undergraduate. He also received his Master's degree in Developmental Biology and Neuroscience, his MD and a PhD in Human Molecular Genetics from the University of Cambridge. He completed a fellowship in Clinical Genetics at the Royal Children's Hospital in Melbourne and a residency in Pediatrics at the Royal London Hospital in London, as well as residencies and fellowships in Neonatology at the Royal Children's Hospital in Melbourne and Great Ormond Street Hospital for Children in London. In addition, he trained as a resident in Child Neurology, as Chief Resident, and completed a fellowship in Fetal-Neonatal Neurology at Children's Hospital Boston--during which time he received an American Academy of Neurology Clinical Training Fellowship. Khwaja is an advocate for children with Rett syndrome, autism and other neurologic disorders and is active on the Scientific Board of the International Rett Syndrome Foundation.

Key Publications

  • Ching MS et al. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet 2010 Jun 5; 153B(4):937-47.
     
  • Beeghly M et al. Neurodevelopmental outcome of fetuses referred for ventriculomegaly. Ultrasound Obstet Gynecol 2010 Apr; 35(4):405-16.
     
  • Miller DT et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 2009 Apr; 46(4):242-8.
     
  • Khwaja O and Volpe JJ. Pathogenesis of cerebral white matter injury of prematurity. Arch Dis Child Fetal Neonatal Ed 2008 Mar; 93(2):F153-61.
     
  • Khwaja OS et al. Basilar meningitis associated with ethmoid and sphenoid cephaloceles. Pediatr Neurol 2005 Jul; 33(1):57-60.

For a list of Omar Khwaja's publications on PubMed, click here.