Northwestern University Feinberg School of Medicine
Center for Autism and Neurodevelopment
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Comorbid Disorders

Because patients with autism often have other neurodevelopmental disorders, such as seizure disorders or epilepsy, anxiety or depression, Center for Autism and Neurodevelopment faculty investigate several of these comorbid disorders.

 Anne Berg Lab
Studying pediatric seizures and epilepsy with a specific emphasis on seizure outcomes.

Research Description

The focus of my research for nearly 30 years has been “natural” of pediatric seizures and epilepsy with a specific emphasis on seizure outcomes, developmental and cognitive consequences, the impact on quality of life, impact on families, and the implications of all of these considerations for care and care-models.

For more information please view the faculty profile of Anne Berg, PhD.

Contact Us

Contact Anne Berg, PhD, via email.

 Gemma Carvill Lab

Genetic causes and pathogenic mechanism that underlie epilepsy

Research Description

The primary goal of our research is to use gene discovery and molecular biology approaches to identify new treatments for epilepsy. We aim to 1) identify the genetic causes of epilepsy, 2) use stem cell models to understand how genetic mutations can cause epilepsy, 3) develop and test new therapeutics for this condition. Our work is based on the promise of precision medicine where knowledge of an individual’s genetic makeup shapes a personalized approach to care and management of epilepsy.

Current Projects

  • Next generation sequencing in patients with epilepsy
  • Alternative exon usage during neuronal development
  • Identify the regulatory elements that control expression of known epilepsy genes
  • Stem cell genetic models for studying the epigenetic basis of epilepsy

For more information, see Dr. Carvill's faculty profile or the Carvill Lab Website.

Publications

Please see Dr. Caraveo Piso's publications on PubMed.

Contact Information

Gemma L. Carvill, PhD

 Hongxin Dong Lab
Focusing on the mechanisms of neurodegeneration and related disorders.

Research Description

Dong’s lab research interests focuses on the mechanisms of neurodegeneration and related disorders. Two ongoing NIH funded projects include using a combination of human and mouse genetics to identify novel genes and pathways that give rise to schizophrenia; additionally, using a transgenic mouse model of Alzheimer’s disease to investigate the relationship and mechanisms between stress and Alzheimer’s pathogenesis.

For more information please view the faculty profile of Hongxin Dong, MD, PhD.

Contact Us

Contact Hongxin Dong, MD, PhD, via email.

 Al George Lab

Investigating the structure, function, pharmacology and molecular genetics of ion channels and channelopathies

George Lab

Research Description

Ion channels are ubiquitous membrane proteins that serve a variety of important physiological functions, provide targets for many types of pharmacological agents and are encoded by genes that can be the basis for inherited diseases affecting the heart, skeletal muscle and nervous system.

Dr. George's research program is focused on the structure, function, pharmacology and molecular genetics of ion channels. He is an internationally recognized leader in the field of channelopathies based on his important discoveries on inherited muscle disorders (periodic paralysis, myotonia), inherited cardiac arrhythmias (congenital long-QT syndrome) and genetic epilepsies. Dr. George’s laboratory was first to determine the functional consequences of a human cardiac sodium channel mutation associated with an inherited cardiac arrhythmia. His group has elucidated the functional and molecular consequences of several brain sodium channel mutations that cause various familial epilepsies and an inherited form of migraine. These finding have motivated pharmacological studies designed to find compounds that suppress aberrant functional behaviors caused by mutations.

Recent Findings

  • Discovery of novel, de novo mutations in human calmodulin genes responsible for early onset, life threatening cardiac arrhythmias in infants and elucidation of the biochemical and physiological consequences of the mutations.
  • Demonstration that a novel sodium channel blocker capable of preferential inhibition of persistent sodium current has potent antiepileptic effects.
  • Elucidation of the biophysical mechanism responsible for G-protein activation of a human voltage-gated sodium channel (NaV1.9) involved in pain perception.

Current Projects

  • Investigating the functional and physiological consequences of human voltage-gated sodium channel mutations responsible for either congenital cardiac arrhythmias or epilepsy.
  • Evaluating the efficacy and pharmacology of novel sodium channel blockers in mouse models of human genetic epilepsies.
  • Implementing high throughput technologies for studying genetic variability in drug metabolism.
  • Implementing automated electrophysiology as a screening platform for ion channels.

For lab information and more, see Dr. George’s faculty profile.

Publications

See Dr. George's publications on PubMed.

Contact

Contact Dr. George at 312-503-4892.

Lab Staff

Research Faculty

Alexis Demonbreun, Lynn DoglioVladimir Jovasevic, Irawati Kandela, Thomas Lukas, Franck PotetMegan Roy-PuckelwartzChristopher Thompson, Carlos Vanoye

Senior Researchers

Reshma Desai, Jean-Marc DekeyserPaula FriedmanChristine Simmons

Lab Manager

Tatiana Abramova

Postdoctoral Fellows

Thomas HolmDina Simkin

Medical Residents

Scott Adney, Tracy Gertler

Graduate Students

Surobhi Ganguly, Lisa Wren

Technical Staff

Sneha Adusumilli, Nora Ghabra, Agnes Pastwa

 Jennifer Kearney Lab

Investigating the genetic basis of epilepsy

Research Description

My research program is focused on studying the genetic basis of epilepsy, a common neurological disorder that affects approximately 1% of the population. Epilepsy is thought to have a genetic basis in approximately two-thirds of patients, including a small fraction caused by single gene mutations. Many genes responsible for rare, monogenic epilepsy have been identified. The genes identified are components of neuronal signaling, including voltage-gated ion channels, neurotransmitter receptors, ion-channel associated proteins and synaptic proteins. We use mouse models with mutations in ion channel genes to understand the underlying molecular basis of epilepsy and to identify modifier genes that influence phenotype severity by modifying disease risk. Identifying genes that influence epilepsy risk improves our understanding of the underlying pathophysiology and suggests novel targets for therapeutic intervention.

For lab information and more, see Dr. Kearney's faculty profile.

Publications

See Dr. Kearney's publications on PubMed.

Contact

Contact Dr. Kearney at 312-503-4894.

Lab Staff

Research Faculty

Nicole Hawkins

Instructor

Sunita Misra

Graduate Students

Erin Baker, Letonia Copeland-Hardin, Dennis Echevarria, Seok Kyu Kang

Technical Staff

Samantha Duarte, Tyler Thaxton

Temporary Staff

Isaiah Eckart-Frank

 Evangelos Kiskinis Lab

Our laboratory investigates the molecular mechanisms that give rise to neurological diseases using human stem cell-derived neuronal subtypes.

Research Description

The broad objective of our laboratory is to understand the nature of the degenerative processes that drive neurological disease in human patients. We are primarily interested in Amyotrophic Lateral Sclerosis (ALS), Epileptic Syndromes as well as the age-associated changes that take place in the Central Nervous System (CNS). We pursue this objective by creating in vitro models of disease. We utilize patient-specific induced pluripotent stem cells and direct reprogramming methods to generate different neuronal subtypes of the human CNS. We then study these cells by a combination of genomic approaches and functional physiological assays. Our hope is that these disease model systems will help us identify points of effective and targeted therapeutic intervention.

Publications

View Dr. Kiskinis' publications at PubMed

For more information view the faculty profile of Evangelos Kiskinis, PhD, or the Evangelos Kiskinis Lab site.

Contact Information

Evangelos Kiskinis, PhD
Assistant Professor of Neurology

 John Millichap Lab
Utilizes a multidisciplinary team approach to the diagnosis and treatment of pediatric epilepsy and comorbidities

Research Description

Dr. Millichap has over 40 peer-reviewed medical publications and serves as the Section Editor of the Resident and Fellow Section of the journal Neurology and the Editor of Pediatric Neurology Briefs. As a member of the academic faculty of Northwestern University, he is involved in the education of trainees and grant-funded clinical research concerning epileptic encephalopathies.

For more information, view the faculty profile of John Millichap, MD.

Contact Us

Contact John Millichap, MD, via phone at 312-227-3540

 Peter Penzes Lab

Studying the molecular and cellular mechanisms that control the formation and modification of dendritic spines in the mammalian brain

Research Description

Research in my laboratory centers on the molecular and cellular mechanisms that control the formation and modification of dendritic spines in the mammalian brain. These mechanisms underlie the normal development and plasticity of the brain, and contribute to higher brain functions, including cognitive, social, and communication behavior. However, when these mechanisms go awry, they lead to mental and neurological disorders. Our analysis integrates multiple organizational levels, from molecular, cellular, circuit, and rodent models, to human subjects. We employ both a “translational” strategy, utilizing basic mechanistic data we generate to understand disease pathogenesis, and a “reverse-translational” strategy, in which genetic, neuropathological, and imaging studies in human subjects help guide the discovery of novel mechanistic insight. The ultimate goal of these studies is to develop therapeutic approaches to prevent or reverse neuropsychiatric disorders, by targeting mechanisms that control dendritic spines and synapses.

Projects within Our Lab

1. Mechanistic studies on the molecular mechanisms of dendritic spine plasticity. This line of research aims to identify and elucidate functions of novel molecular regulators of synaptic circuit modification during the lifespan. We investigate the formation, remodeling, and elimination of spiny synapses in neurons using both in vitro and in vivo models. We are particularly interested in signaling, adhesion, and scaffolding molecules that control cell-to-cell communication and mediate intracellular signaling by neurotransmitter receptors. My laboratory continues to investigate small GTPase pathways and the roles of guanine-nucleotide exchange factors, such as kalirin and Epac2, and their downstream targets Rac, PAK, Rap and Ras. In addition, we have made important contributions to understanding how synaptic activity controls synapse size and strength through a pathway involving NMDA receptors, CaMKII, kalirin, Rac1 and actin, how rapid synaptic plasticity in the brain is regulated by locally synthesized estrogen, how adhesion molecules including N-cadherin control synapse size and strength, and how dopamine and neuroligin control synapse stability though Epac2 and Rap1.

2. Translational and reverse-translational studies on the molecular substrates of dendritic spine pathology. Investigations of genetic, neuropathological, and neuromorphological alterations in human subjects with psychiatric disorders have started to reveal the pathogenic mechanisms behind these illnesses, and are also guiding the discovery of unexpected basic mechanisms of brain development and function. Through studies performed in the lab and through collaborations, we investigate molecular and cellular alterations occurring in patients with schizophrenia, bipolar disorder, autism, and Alzheimer’s disease. We then use model systems, such as neuronal cultures or mice, to elucidate the functions and pathogenic mechanisms of key molecules. We are currently investigating the basic synaptic functions of several leading mental disorder risk genes, to understand how they contribute to normal brain function and to synapse pathology. Conversely, many molecules we have been studying in the lab have more recently been implicated in the pathogenesis of mental disorders through independent neuropathological or genetic studies. We have shown that molecules that control basic synapse structural plasticity, such as kalirin and Epac2, functionally interact with leading mental disorder risk molecules, such as neuregulin1, ErbB4, DISC1, 5HT2A receptors, dopamine receptors, neuroligin, and Shank3. We have generated mutant mice in which kalirin or Epac2 are ablated, and have shown that these molecules control behaviors relevant for mental disorders, such as sociability, working memory, sensory motor gating, and vocalizations. These animal models can thus help to understand the synaptic substrates of specific aspects of mental disorders. To investigate the abnormal regulation of these molecular pathways in schizophrenia, autism, Alzheimer’s disease, and the impact of these molecular abnormalities on disease phenotypes in human subjects, we are collaborating with neuropathologists, brain imaging experts, and geneticists who investigate human subjects.

Potential Clinical Implications of Our Work

Therapeutic reversal of neuropsychiatric disease by targeting synaptic connectivity. By harnessing the knowledge from our basic and reverse-translational studies, my goal is to develop novel therapeutic approaches to prevent, delay, or reverse the course of mental and neurodegenerative disorders. Because abnormal synaptic connections play central roles in the pathogenesis of schizophrenia, autism, and Alzheimer’s disease, pharmacological targeting of key molecules implicated in synaptic plasticity and pathology can rescue disease associated abnormalities, and thereby influence the outcome of the disease. We are currently developing transgenic animal models to validate synaptic signaling molecules as therapeutic targets in mental disorders. We are also developing cellular assays which we will use in high-throughput screens for small-molecule regulators of synapse remodeling. Our goal is to identify small-molecule regulators of synapse remodeling which can be taken into clinical trials as therapeutics aimed at reversing synaptic deficits, and thus cognitive dysfunction, in mental disorders.

Our Facilities

In our studies, we employ a multidisciplinary approach, using an array of methods that include advanced cellular and in vivo microscopy, biochemistry, electrophysiology, manipulations of gene expression in vivo, mouse behavioral analysis, circuit mapping, and human genetics and neuropathology.

For lab information and more, see Dr. Penzes' faculty profile and lab website.

Publications

See Dr. Penzes' publications on PubMed.

Contact

Contact Dr. Penzes at 312-503-5379.

Lab Staff

Postdoctoral Fellows

Daniel Bermingham, Lorenza Culotta, Marc Forrest, Maria Dolores Martin de SaavedraKristoffer MyczekEuan ParnellNicolas Piguel, Christopher Pratt, Marc Dos Santos, Lauren Shapiro, Sehyoun Yoon, Colleen Zaccard 

Graduate Students

Ruoqi Gao, Theron Russell

Technical Staff

Leonardo Dionisio, Katherine Horan, Hiba Jalloul, Daniel Loizzo, Emmarose McCoig

Visiting Scholar

Roos Voorn

Temporary Staff

Vikram Bagchi, Amy Song

 Jelena Radulovic Lab

Principal Investigator: Jelena Radulovic, MD, PhD

 Eva Redei Lab
Researching psychiatric diseases affecting children and adolescents.

Research Description

Eva Redei conducts research in the following categories: biomarkers, stress hypersensitivity, depressive disorders, genetic vulnerability, epigenetic regulation, imprinted genes, neuroendocrinology, hypothalamic-pituitary-thyroid, hypothalamic-pituitary-adrenal, and emotional behavioral tests.

For more information please view the faculty profile of Eva Redei, PhD.

Contact Us

Contact Eva Redei, PhD, via email.

 Geoffrey Swanson Lab

Studying glutamate receptors in the modulation of neurotransmission and induction of synaptic plasticity

Research Description

Geoffrey Swanson’s, PhD, laboratory studies the molecular and physiological properties of receptor proteins that underlie excitatory synaptic transmission in the mammalian brain. Current research focuses primarily on understanding the roles of kainate receptors, a family of glutamate receptors whose diverse physiological functions include modulation of neurotransmission and induction of synaptic plasticity. We are also interested in exploring how kainate receptors might contribute to pathological processes such as epilepsy and pain. The laboratory investigates kainate receptor function using a diverse group of techniques that include patch-clamp electrophysiology, selective pharmacological compounds, molecular and cellular techniques and gene-targeted mice.

Current Projects

  • Isolation and characterization of new marine-derived compounds that target glutamate receptors
  • Kainate receptors in hippocampal synaptic transmission
  • Mechanisms of kainate receptor assembly and trafficking

For lab information and more, see Dr. Swanson’s faculty profile and lab website.

Publications

See Dr. Swanson's publications on PubMed.

Contact

Contact Dr. Swanson at 312-503-1052.

Lab Staff

Instructor

William Nobis

Postdoctoral Fellow

Sakiko Taniguchi

Graduate Students

Erica Binelli, Kendall Foote, Kristine Watral

Technical Staff

Helene Lyons-Swanson, Jacob Stolz

Temporary Staff

Erica Binelli

 Craig Weiss Lab
Focusing on focuses learning and memory, Alzheimer's disease and aging.

Research Description

Weiss' work focuses on many topics, including learning and memory, multiple single-unit electrophysiology, fMRI, behavior, classical conditioning, rabbit, transgenic mice, knockout mice, Alzheimer's disease, hippocampus, cerebellum and aging.

For more information please view the faculty profile of Craig Weiss, PhD.

Contact Us

Contact Craig Weiss, PhD, via email.

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