Current Environment: Production

Medical Services

Programs & Services

Languages

  • English

Education

Undergraduate School

Brown University

Providence, RI

Medical School

Albert Einstein College of Medicine

Bronx, NY

Internship

Pediatrics

Children's Hospital of Montefiore

Bronx, NY

Residency

Neurology

Boston Children's Hospital

Boston, MA

Fellowship

Sleep Medicine

Boston Children's Hospital / Beth Israel Deaconess Medical Center

Boston, MA

Certifications

  • American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
  • American Board of Psychiatry and Neurology (Sleep Medicine)

Professional History

As a child neurologist and sleep physician, I am especially aware of the importance of sleep in children with neurological disease. My research seeks to understand the biological relationships between the circadian clock and diseases of the developing brain.

We have identified the core circadian clock protein BMAL1 as a regulator of protein synthesis. BMAL1 promotes circadian rhythms in protein synthesis as a substrate of the mechanistic target of rapamycin (mTOR) pathway, a critical gauge of nutritive status and stress in all cells, including the brain.

We have characterized a novel, potentially modifiable, link between the biological timing system and cellular signaling. Corroborating these findings, we have found strong phenotypes in mouse models of the mTOR-opathy Tuberous Sclerosis Complex. Using a combination of mouse behavior, cell biology, biochemistry, and proteomic approaches, my research investigates how circadian timing mechanisms are disrupted in disease.

My teaching activities include supervision of medical students, neurology residents, sleep medicine fellows, graduate students, and post-doctoral fellows. My educational role straddles both clinical and basic scientific domains and have widely at local, national, and international venues. 

Publications

  1. Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome. Clin Genet. 2025 Jun; 107(6):636-645. View Abstract

  2. Synaptic BMAL1 phosphorylation controls circadian hippocampal plasticity. Sci Adv. 2023 10 27; 9(43):eadj1010. View Abstract

  3. Defining diurnal fluctuations in mouse choroid plexus and CSF at high molecular, spatial, and temporal resolution. Nat Commun. 2023 06 22; 14(1):3720. View Abstract

  4. Persistent CO2 reactivity deficits are associated with neurological dysfunction up to one year after repetitive mild closed head injury in adolescent mice. J Cereb Blood Flow Metab. 2021 12; 41(12):3260-3272. View Abstract

  5. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. Hum Mol Genet. 2020 01 15; 29(2):320-334. View Abstract

  6. Mechanisms of sleep and circadian ontogeny through the lens of neurodevelopmental disorders. Neurobiol Learn Mem. 2019 04; 160:160-172. View Abstract

  7. Proteomics, Post-translational Modifications, and Integrative Analyses Reveal Molecular Heterogeneity within Medulloblastoma Subgroups. Cancer Cell. 2018 09 10; 34(3):396-410.e8. View Abstract

  8. mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex. Neuropsychopharmacology. 2018 05; 43(6):1457-1465. View Abstract

  9. Aberrant Proteostasis of BMAL1 Underlies Circadian Abnormalities in a Paradigmatic mTOR-opathy. Cell Rep. 2017 07 25; 20(4):868-880. View Abstract

  10. Neural Circuitry of Wakefulness and Sleep. Neuron. 2017 Feb 22; 93(4):747-765. View Abstract

  11. Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex. Cell Rep. 2016 11 15; 17(8):2162. View Abstract

  12. Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Cell Rep. 2016 10 18; 17(4):1053-1070. View Abstract

  13. Direct current stimulation induces mGluR5-dependent neocortical plasticity. Ann Neurol. 2016 08; 80(2):233-46. View Abstract

  14. The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation. Cell. 2015 May 21; 161(5):1138-1151. View Abstract

  15. The neurology of mTOR. Neuron. 2014 Oct 22; 84(2):275-91. View Abstract

  16. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View Abstract

  17. Fragile X syndrome therapeutics: translation, meet translational medicine. Neuron. 2013 Jan 23; 77(2):212-3. View Abstract

  18. 16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child. Neurology. 2009 Aug 11; 73(6):479-80. View Abstract

  19. Melatonin deficiency and disrupted circadian rhythms in pediatric survivors of craniopharyngioma. Neurology. 2009 Jul 28; 73(4):323-5. View Abstract

  20. Insomnia of childhood. Curr Opin Pediatr. 2008 Dec; 20(6):641-9. View Abstract

  21. CNS relapse of acute myelogenous leukemia masquerading as pseudotumor cerebri. Pediatr Neurol. 2008 Nov; 39(5):355-7. View Abstract

  22. Kawasaki disease: cerebrovascular and neurologic complication. Uncommon Causes of Stroke. 2008.

  23. Disruption of Circadian Melatonin Secretion in Pediatric Craniopharyngioma Survivors with Hypersomnolence. Sleep (Abstract). 2008.

  24. Kawasaki disease: cerebrovascular and neurologic complications. Uncommon Causes of Stroke (editor LR Caplan). 2008.

  25. Mating worms and the cystic kidney: C. elegans as a model for renal disease. Pediatric Nephrology. 2005; 20:1531-36.

  26. Mate searching in Caenorhabditis elegans: a genetic model for sex drive in a simple in vertebrate. Journal of Neuroscience. 2004; 24:7427-34.

  27. Genetics of Sexually Motivated Behavior in Caenorhabditis elegans. 2003.

  28. The genetic basis of male mating behavior. Journal of Neurobiology. 2003; 54:93-110.
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