Home
I am a child neurologist and neurodevelopmental disorder specialist at Boston Children's Hospital studying genetic causes of intellectual disability and cerebral palsy, with particular emphasis on synpathopathies.
Research
For this group of disorders, I use a multi-modal approach involving
- gene/variant discovery
- neurodevelopmental phenotyping
- biomarker identification
This approach not only pinpoints possible mechanisms of disease but also delineates appropriate targets for therapy in future clinical trials aimed at improving developmental outcomes.
My overall goal is to improve the lives of children with neurogenetic and neurodevelopmental disorders by translating these scientific discoveries into personalized treatments and meaningful clinical practice changes.
Learn more.Clinics
At Boston Children’s Hospital, I provide care to children in a variety of neurogenetics clinics.
- I take part in the Developmental Neurogenetics Program, which specializes in the diagnosis and management of genetic disorders associated with neurodevelopmental disabilities. The two pillars of this program are etiological evaluation and neurological/developmental/behavioral management.
- Within this program, I lead our multidisciplinary Phelan-McDermid Syndrome Clinic, PTEN Clinic, HIVEP2 Clinic, SETBP1 Clinic, and Kleefstra Clinic, whose goals include uncovering genetic causes of unexplained presentations, optimizing long-term neurodevelopmental outcomes, and coordinating specialty care across multiple disciplines.
- I evaluate and treat patients in our Cerebral Palsy Diagnostic Program, which strives to diagnose genetic disorders presenting as cerebral palsy.
Contact
Department of Neurology,
Boston Children's Hospital
2 Brookline Place
Brookline, MA 02445