Research

Our work overall is based on research in Genetics and Neuroscience.  In Neuroscience, we emphasize Basic Neuroscience, and Clinical/Translational Neuroscience. In Basic Neuroscience the work of our investigators falls into the two broad categories of molecular neuroscience and systems neurobiology.

In the area of molecular neuroscience research, investigators are studying cell fate determination, embryonic pattern formation and neural migration, axon guidance, synapse development and function, neuronal and glial signal transduction, and ion channels and plasticity.  In the area of systems neurobiology, investigators are studying developmental neurological disorders, circuit development, axonal regeneration, stem cells and nervous system repair, neuro-endocrinology and behavior, and ear development.

In Clinical/Translational Neuroscience our investigators are focusing on the principal themes of neuro-oncology, brain injury in the premature infant, human brain development studied in vivo, neonatal behavior and brain development; human visual development, HIV and the developing brain, heart disease, surgery and brain development, endogenous and exogenous toxins and brain development, neurocognitive development, developmental neuropsychology and learning disabilities, and the activities of our University Affiliated Program and its Institute for Community Inclusion.

In Genetics the work of our investigators is organized into research themes in neuromuscular diseases, molecular genetics of human cerebral cortical development, molecular basis of genetic disorders, retinal development and degenerative disorders, signal transduction, muscle stem cells, genetics of complex traits and inherited musculoskeletal disorders.

Research List

1R01 ES026317-01 Does arsenic increase risk of neural tube defects in a highly exposed population?
1R01 HD083270-01A1 Fear Learning In Adolescents With Chronic Pain: Neural And Behavioral Mechanisms
1R01 MH100028 Multimodal Developmental Neurogenetics of Females with ASD
1R01 MH104488 Choroid plexus and mis-regulation of brain OTX2 in schizophrenia
1R01 NS080565 Early life seizures disrupt critical period plasticity
1R01 NS088583 Mapping progressive loss of intracortical inhibition by TMS and EEG in PTE
1U01 AA023503-01 Behavioral Characteristics and Neural Correlates of Reading Impairment in FASD
1U01 MH106883-01 1/2-Somatic mosaicism and autism spectrum disorder
1U01 MH109107-01 Generating Multiple Circuit and Neuron Type Specific AAV Vectors with Cross-Species Applicability
1U01 NS082320 Early biomarkers of Autism Spectrum Disorders in infants with Tuberous Sclerosis Complex
1U54 NS092090 Developmental Synaptopathies Associated with TSC, PTEN &SHANK3 Mutations
2R01 EY10597 Photoreceptor Function in Retinopathy of Prematurity
2R01 NS041062 Genetics of New Synaptic Components and Their Functions
2R37 NS039518 Neural Plasticity and Inflammatory Pain
2RO1 EY01361 Plasticity of the Retinogeniculate Synapse
2U01 HD04599 Prenatal Alcohol in SIDS and Stillbirth (PASS) Network
3U54 HD061222-11 Natural History of Rett Syndrome, MECP2 duplications, and Rett-related disorders
4ROONS072192-03 Cerebrospinal Fluid Proteome Mediated Signaling in the Developing CNS
5P01 HD076892 Alexander Disease: Cellular and Molecular Mechanisms, Project 2: Drosophila Model of Alexander Disease
5P42ES016454-02 Superfund Metal Mixtures, Biomarkers and Neurodevelopment
5R01 DK07578 Candidate Gene Studies of Obesity Guided by Whole Genome Association Data
5R01 DK091299 A role for mRNA transport and local translation in podocytes
5R01 HD082078 Early life stress, telomere attrition, and child prefrontal cortex functioning
5R01 HD20991 Brainstem Maturation in the Sudden Infant Death Syndrome
5R01 NS06991 Signal Transduction in Axon Guidance
5R01 NS335129 Human Epilepsy Genetics: Neuronal Migration Disorders
5R01_NS046579-08 Dendritic Ca2+ Signals in Striatal Medium Spiny Neurons
5R01GM089885-03 Mechanism of Action of Halofuginone as a Novel Therapeutic
5R01HD061577-02 Use of Gene Therapy as a Tool to Study Reproductive Function
5R01LM010033-02 Informatics Algorithms for Neural Circuitry Ultrastructure
5R01NS060860-04 Circadian Clock of the Paraventricular Nucleus
5R21DC011122-02 A Conditional RNAi Approach to Find Genes Required for Hearing in Mice
5R21HD066495-02 Epigenetic Regulation of Puberty
5R37 NS03481 Neurotrophin Signals Controlling Development of the Peripheral Nervous System
5U01 CA184898 Embryonal Brain Tumor Networks (Identifying signaling pathways associated with medulloblastoma subtypes from "omic" data)
90DD0513 Developmental Disabilities Core Grant: University Affiliated Program
Autism Speaks Preclinical Autism Consortium for Therapeutics
Autism Speaks Foundation Elucidation and Rescue of Amygdala Abnormalities in the Fmr1 Mutant Mouse Model of Fragile X Syndrome
Autism Speaks Sahin Randomized Phase II Trial of RAD001 Effect on Neurocognition in Tuberous Sclerosis Complex (TSC)
Bertarelli Foundation 010112 Gene Therapy in Mouse Models of Human Deafness
Crohn's and Colitis Foundation of America (CCFA) Senior Research Award The Impact of Inflammation on Brain White and Gray Matter Structure and Function in Pediatric Crohn's Disease
DP NS092473 New tools for understanding the blood brain barrier
DP1 AG044416 Modeling the Aging Epigenome
Harris Foundation NIDCAP Newborn Individualized Developmental Care and Assessment Program (NIDCAP) Training and Development
Harvard Catalyst Pilot Project 020115 Antibody Therapy for Treating Brain Injury and Preventing Chronic Traumatic Encephalopathy
Howard Hughes Medical Institute Development and guidance of cranial motor neurons in health and disease
International Foundation for CDLK5 Research CDLK5 Centers of Excellence
International Rett Syndrome Fndtn Development of a Behavioral Outcome Measure for Rett Syndrome (IRSF #2804)
International Rett Syndrome Foundation (Phase # 2907 2-Angel Award) A Phase 2b placebo-controlled cross-over study of rh-IGF1 for treatment of Rett syndrome and development of Rett-specific novel biomarkers of cortical and autonomic function
Landreth Foundation Autism-Epilepsy Comorbidity
March of Dimes 020112 Early Visual Signals and Neural Development
Mathers Foundation 040112 Understanding the How and Why of Mitochondrial Movement
Nancy Lurie Marks Family Foundation Genetic Mouse Models of Autism
NICHD_46855 Preterm Fetal Growth Restriction and Developmental Care
NIDA 7K01DA029044; Brain Research Foundation BRFSG-2013-04 Presynaptic Mechanisms
NIDCD R01 DC010155 Non-canonical olfactory and vomeronasal receptors
NIH RO1 ES017646 Environment, the Perinatal Epigenome, and Risk for Autism and Related Disorders
NIH-NIDCD R21DC011720 Inducible Expression of Exogenous Potassium Channels in Hair Cells
P01 HD036379 The Ventral Medulla & the Sudden Infant Death Syndrome (Serotonin and GABA Neuron Subtypes – their Development and Function)
P01 HD36379 The Ventral Medulla and the Sudden Infant Death Syndrome (PI, Project 1: Protective Responses and Brainstem Analysis in the Sudden Infant Death Syndrome)
P01 NS07204 TRP Channel Mediated Pain Circuitry
P50 MH094271 Imprinting a Connectome: Developmental Circuit Approach to Mental Illness
P50HG003233 Center for Epigenetics of Common Human Disease (CEGS)
P50HG003233 Center for the Epigenetics of Common Human Disease (CEGS)
Pfizer, Inc. 100114 Studies that investigate, identify, de-risk, and confirm new targets for the treatment of Duchenne Muscular Dystrophy
R01 MRI Brain Study of Adolescents with Prenatal Exposure to Cocaine or Other Drugs
R01 AR064300 Manipulation of Pten/Akt signaling in Duchenne Muscular Dystrophy as a means of Therapy
R01 AR44345 Genes and Therapies for Centronuclear Myopathies
R01 DC005439 Ion Channel Function in Auditory & Vestibular Hair Cells
R01 DC009223 Genetic Dissection of Auditory Circuit Assembly
R01 DC013289 Olfactory circuits that control behavior
R01 DC02281 Molecular Basis of Inherited Deafness
R01 DE018025 Genetic Control of Nociceptive Sensory Neuron Development and Pain Behavior
R01 DE022912 Sleep disturbance as a risk factor for developing chronic pain
R01 DK038712 Regulating IRS-Proteins by Ser/Thr Phosphorylation
R01 DK055326 IRS-2 Function in Beta Cell Physiology
R01 DK068306 Novel genetics, pathbiology & therapy of nephronophthisis-related ciliopathies
R01 DK084056 Characterization of Telomerase-Expressing Intestinal Stem Cells
R01 EB017337 Advanced Fetal Imaging
R01 ES013744 Stress, Lead, Iron Deficiency and Neurodevelopment
R01 EY023648 Properties and Mechanisms of Melanopsin Photoreception
R01 EY024481 Zinc is a critical regulator of cell death and axon regeneration after CNS injury
R01 EY024884 Molecular control of neuronal shape and connectivity in the developing retina
R01 EY083848 Development of Novel Transsynaptic Tracers for Use in the Central Nervous System
R01 GM069808 Milton/Trak 1/2 Protein and the Transport of Mitochondria
R01 GM57603 Studies of Wnt antagonists
R01 HD019938 Reproductive Physiology of Gonadotropin Synthesis
R01 HD060986 Transgenerational Effects of Malnutrition in Child Development
R01 HD065762 Neural pre-markers of dyslexia in children prior to reading onset: a longitudinal fMRI study
R01 HD067312 Using Cognitive Neuroscience to Predict Dyslexia Among Kindergarten Children
R01 HD075802 02 Genetic Screening and Therapies for Nemaline Myopathies
R01 HD076258 Perinatal Brain Injury: Potential of Innovative NIRS to Optimize Hypothermia Treatment
R01 HD082314 Deciphering the Functional Role of MKRN3 I Puberty and Reproduction
R01 HL119486 Ontogeny And Chromatin Signature of Cardiac Outflow Tract Lineage
R01 HL128818 Single Ventricle Reconstruction Trial III: Brain Connectome and Neurodevelopmental Outcomes – Ancillary Study
R01 MH083565 Autism Genetics: homozygosity mapping and functional validation
R01 MH091363 Effects of Early Psychosocial Deprivation on Mental Health in Adolescence
R01 MH096066 Novel epigenetic mechanisms in neuronal development and cognitive function
R01 MH097979 Taking Advanced Diffusion Imaging to the Clinic for Pediatric Patients with ADHD
R01 MH101528 The algorithms used by the genome to interpret neural activity
R01 NS038253 Altered Sensibility Following Peripheral Nerve Damage
R01 NS046616 The Role of Arx in Normal and Abnormal Brain Development
R01 NS066929 Pilot Trial of Bumetanide for Neonatal Seizures
R01 NS071008 Investigating the Role of Glia in Activity-Dependent Synapse Elimination
R01 NS077907 Scalable assays for morphological analysis of mammalian neurons
R01 NS079788 MRI Biomarkers of Patients with Tuberous Sclerosis Complex and Autism
R01 NS081916 Neurobiological Mechanism of 15q11-13 Duplication Autism Spectrum Disorder
R01 NS082257 Investigating the mechanism of TNFalpha mediated cell death in oligodendrocytes
R01 NS083898 Molecular Dissection of Active Zone Functions in Neurotransmitter Release
R01 NS088566 Control of neural stem cells by the nascent cerebrospinal fluid
R01 NS092578 Investigating CD47-SIRPa as novel protective signals during CNS synaptic pruning
R01 NS2882 Electrical Stimulation of Immediate Early Genes
R01_MH078829-10A1 The Development of Face Processing
R01_MH085143-01 RNA Expression Patterns in Autism
R01_NS052707 Regulation of synapse growth by mTOR pathway
R01_NS055831 Circadian Clock Regulation of the Mammalian Retina
R01_NS058956 Role of TSC Proteins in Neuronal Polarity and Axon Guidance
R01_NS31718-19 Epileptogenic Effects of Perinatal Hypoxia
R01_NS35909 Genes Essential to Motor Axon Guidance in Drosophilia
R01AR05530701A2 The Role of AML! In Osteoclastogenesis and Osteoclast Gene Expression
R01DA02180 Nicotinic Effects on the Ascending Serotonin System
R01GM057603 Studies of Wnt Receptor interaction with agonists and antagonists
R01HD029468 Regulation of Xenopus Embryonic Development by TGFbeta Superfamily Ligands and SMADs
R01HD047360 Developmental Regulation by miRNAs
R01NS079277 Somatic Mutations in Epilepsy: Whole Genome Sequence Analysis of Single Neurons
R21 MH092614 Synapse Maturation by Activity-Dependent Ectodomain Shedding of SIRP
RFA-HD-12-196 Autism Centers of Excellence
Simons Foundation Autism Research Initiative 080111 Cortico-Thalamic Circuit Interactions in Normal Development and ASD
Simons Foundation/Autism Speaks Autism BrainNET, Boston Node
Succinic Semialdehyde Dehydrogenase Deficiency Association Phenotypic drug screening and personalized medicine using patient-derived neuron models of SSADH
Translational Research Program, BCH Inducing Cardiomyocyte Replacement in Congenital Heart Disease
U01 HD079068 Structural Birth Defects: Moebius Syndrome And Related Facial Weakness Disorders
U01 HD087211 Noninvasive Realtime Assessment of Placental Structure and Function with Novel MR Imaging Methods (multicenter project)
U01 HL068270 Pediatric Heart Network: Single Ventricle Reconstruction Extension Study (SVR III)
U01 HL098166 Transcriptional Networks in Cardiac Development
U01 NS090449 Neural Circuits In Zebrafish: Form, Function And Plasticity
U01 NS094191-01 Lagging or Leading? Linking Substantia Nigra Activity to Spontaneous Motor Sequences
U01MH098953-02 Role of Single Cell mRNA Variation in Systems-Associated Electrically Excitable Cells
U19 HD077671 Genome Sequence-Based Screening for Childhood Risk and Newborn Illness
U19 MH108206 The Autism Biomarkers Consortium for Clinical Trials
U54 HD060848 Biomarkers for Therapy of FSHD- Project 3 Animal Models of FSHD for Therapy Development
W81XWH-12-1-0155 Neurofibromatosis Clinical Trials Consortium
K23 NS101120 Fetal Brain Development in Congenital Heart Disease
R01 NS094596 Identification and Molecular Characterization of Somatic Mutations in Malformations of Cortical Development
Charles H. Hood Foundation, Child Health Scholar Award Zebrafish Models of PCDH19-Related Pediatric Epilepsy
R01 NS080833 Long-term effects of botulinum neurotoxins on neuronal viability
Tuberous Sclerosis Alliance The Circadian Clock as a Capacitor for TSC-related Phenotypes
U01 NS090406 SUDEP Research Alliance: Clinical Network Core
R01 AI113333 Role of ARHGEF2 in brain development/Innate immune defense mechanisms in the intestine
Department of Defense (W81XWH-16-1-0741) Improving Neurodevelopmental Outcomes in Children with Congenital Heart Disease – an Intervention Study
Simons Foundation Autism Research Initiative Development of Corticothalamic Circuits of Prefrontal Cortex in ASD
Penn Medicine Orphan Disease Center on behalf of the LouLou Foundation Development of a High-content drug repurposing screen using CDKL5 patient derived iPSC neurons
R01 DC016222 Characterizing the Functional Architecture of the Necklace Olfactory System
Moderna Inc Messenger RNA based therapeutics as a novel curative approach for disorders of neurodegeneration the example of Niemann Pick type C
R01 EY027421 Dissecting ocular congenital cranial dysinnervation disorders through whole genome sequence analysis
Simons Foundation, 345690 Understanding somatosensation deficits in ASD
R01 HD090985 Flexible Electronics for Assessment of Planning by Children Born Prematurely
R56 NS100007 Arx Associated Transcriptional Networks In Neocortical Development
R01 DC015974 Afferent-Efferent Interactions in the Developing Cochlea
R01 MH113761 Rare human knockouts in autism: patterns and mechanisms
R01 AR069582 Tetraspanin CD82 in muscle satellite cells quiescence and differentiation
R01 GM126120 Novel regulators of Wnt/R-spondin signaling in early vertebrate embryogenesis
R01 NS096294 Promoting axon regeneration and functional recovery after SCI
U01 NS092595 Preventing Epilepsy Using Vigabatrin in Infants with Tuberous Sclerosis Complex (PREVeNT Trial)
R01 CA205255 The role of Bclw (bcl212) in preventing chemotherapy induced neuropathy
R01 AG047231 Investigating the neuroinflammatory role of RIP1 kinase