Contact Information:

Omar Khwaja, MD, PhD, MRCP
Principal Investigator
Rett Syndrome Program
Department of Neurology
Children's Hospital, Boston
300 Longwood Avenue
Boston, MA 02115

Wen-Hann Tan, BMBS
Children's Hospital, Boston
E-mail: Wen-Hann.Tan@childrens.harvard.edu

Kate Barnes
Research Coordinator
Department of Genetics and Metabolism
Department of Neurology
Children's Hospital, Boston
1 Autumn street, Room 417
Boston, MA 02215
E-mail: Katherine.Barnes@childrens.harvard.edu

Phone: (617) 355-5230

Current Clinical Studies:

5203: Angelman Syndrome Natural History Study

5204: Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome

About Us:

With over $225 million in annual funding and 800,000 square feet of space, Children's Hospital Boston is home to the world's largest and most active research enterprise at a pediatric center. The research mission of Children's Hospital encompasses basic research, clinical research, community service programs and the postdoctoral training of new scientists. The National Institutes of Health is our largest sponsor. Our investigators hold numerous prestigious honors and awards, including many "research firsts." And we train leaders: over a third of the chiefs of pediatric departments across the country trained at Children's Hospital Boston.

As a major pediatric referral center, Children's Hospital Boston's mission is to provide the highest quality health care. It is also the hospital's mission to enhance the well-being of the children and families in our local community. In support of this mission, Children's strives to be the leading source of research and discovery, seeking new approaches to the prevention, diagnosis and treatment of childhood and adult diseases, and aiming to educate the next generation of leaders in child health.

The Department of Neurology at Children's Hospital Boston is the oldest, largest and best-known program in pediatric neurology in the world. We have a tradition of evaluating and treating the child holistically. Moreover, we pay close attention to the impact of the neurological disorder on the entire family. Our department provides complete neurological evaluation, accurate diagnosis, modern treatment and careful follow-through. We aim to provide the very latest forms of therapy for all pediatric neurological disorders.

Children's has been ranked first in Neurology and Neurosurgery in the U.S.News Media Group's 2009 edition of American's Best Children's Hospitals featured in the August issue of U.S.News & World Report.

Rett Syndrome Program

The Rett Syndrome Program at Children's Hospital Boston provides specialized care for children and adults with Rett Syndrome and related conditions. Our program is staffed by a team of specialists from various fields who have expertise and experience in the care of children and adolescents with Rett syndrome.

We work closely with occupational and physical therapists, social workers, scientific advisors, family support groups and a full nursing team to ensure that your child receives the best care possible.

Our clinical research is investigating innovative treatments for Rett syndrome, and is actively building links and collaborations with researchers in basic science and neurobiology to rapidly translate new discoveries into therapies and treatments for this disorder.

Links:

Children's Hospital Boston

Rett Syndrome Association of Massachusetts

Children's Hospital Boston Rett Syndrome Program

Publications:

Affara NA, Lau YF, Briggs H, Davey P, Jones MH, Khwaja O, Mitchell M, Sargent C. Report and abstracts of the First International Workshop on Y Chromosome Mapping 1994. Cambridge, England, April 2-5, 1994. Cytogenet Cell Genet 1994;67(4):359-402.

Jones MH, Khwaja OS, Briggs H, Lambson B, Davey PM, Chalmers J, Zhou CY, Walker EM, Zhang Y, Todd C. A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin. Genomics 1994;24(2):266-275.

Jones MH, Furlong RA, Burkin H, Chalmers IJ, Brown GM, Khwaja O, Affara NA. The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. Hum Mol Genet 1996;5(11):1695-1701.

Ahmed SF, Khwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int 2000;85(1):120-124.

Hartley LM, Mrcp B, Khwaja OS, Verity CM, Frcpch B. Glutaric aciduria type 1 and nonaccidental head injury. Pediatrics 2001;107(1):174-175.

Khwaja OS, Robson CD, McManus ML, Urion DK. Basilar meningitis associated with ethmoid and sphenoid cephaloceles. Pediatr Neurol 2005;33(1):57-60.

Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih M, Soul J, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff P, Yusupov R, Gusella JF, Daly MJ, Wu BL. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatirc disorders. J Med Genet. 2008 Nov 26

Limperopoulos C, Robertson RL Jr, Khwaja OS, Robson CD, Estroff JA, Barnewolt C, Levine D, Morash D, Nemes L, Zaccagnini L, du Plessis AJ. How accurately does current fetal imaging identify posterior fossa anomalies? Am J Roentgenol. 2008 Jun;190(6):1637-43.

Khwaja O, Volpe JJ. Pathogenesis of cerebral white matter injury of prematurity. Arch Dis Child Fetal Neonatal Ed 93:F153-F161, 2008.