Northwestern University Feinberg School of Medicine
Center for Autism and Neurodevelopment
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Events

The Center hosts a seminar series featuring renowned experts discussing research in autism and related neurodevelopmental disorders, cellular and molecular neuroscience, pediatric neurology, genetics, physiology, and psychiatry.

 

Sep

26

Genetics and Biology of the Human Circadian System - Louis Ptáček, MD

Chicago - 2:00 PM - 3:00 PM

The Center for Autism and Neurodevelopment of Northwestern University Feinberg School of Medicine welcomes you to attend a lecture featuring: Louis Ptáček, MDJohn C. Coleman Distinguished Professor of NeurologyUniversity of California, San Francisco Sleep contributes to our physical and mental health, and sleep perturbation has been linked to many health conditions. However, understanding of the human circadian system was impossible until the recognition of extreme behavioral variants of the human circadian system. The Mendelian trait of familial advanced sleep phase (FASP) 20 years ago opened up the possibility of identifying human genes and mutations that regulate the human clock. We have been studying many FASP families to identify such genetic variant and to probe the in vitro and in vivo functional consequences of such variants. These studies have led to many novel insights into the human circadian clock. Our work over the last 20 years has now culminated with reported estimates of FASP prevalence that is much higher than anyone could have predicted before. The resource of human families is leading to identification of novel circadian genes. Dr. Louis Ptáček has used the tools of human genetics in the study of patients with an impressive range of human phenotypes. He pioneered the field of “Channelopathies” which encompasses a large group of episodic/electrical disorders of muscle, heart, and brain. His earliest work focused a group of rare episodic muscle diseases he had proposed as models for more complex episodic/electrical disorders like cardiac arrhythmias and epilepsy. In an elegant set of papers, he systematically cloned and characterized all the genes causing a variety of familial periodic paralyses. All encode ion channels and work from his and other labs has shown that homologs of these are the cause of some forms of cardiac arrhythmias, epilepsy, and migraine headache. Subsequently, his group has done extensive work in characterizing the functional consequences of disease causing mutations.To this point, Ptáček’s work had focused on human diseases. In another line of work motivated by a family with an interesting phenotype, he has now embarked into the challenging field of behavioral genetics. He and his colleague, Ying-Hui Fu, study the genetics of human sleep phenotypes. Familial advanced sleep phase (FASP), is manifest as a lifelong trait of extremely early sleep times and early morning awakening (1 am – 4 am). Ptáček and Fu have gone on to characterize mutations in a growing list of genes that underlie the phenotype in ~15% of FASP families. Furthermore, they’ve gone on to model human mutations in Drosophila and mice. In vitro and in vivo experiments focused on regions harboring the human mutations has led to novel insights in fine tuning of circadian period regulation by phosphorylation and other post translational modifications.He serves on a number editorial boards including Neurogenetics, eLife, and the Journal of Clinical Investigation. He is a member of the National Academy of Medicine, the American Association of Arts and Sciences, and the National Academy of Science.

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Oct

03

Disruption of Synaptic Transmission and Plasticity in Cognitive Disorders - Richard L. Huganir, PhD

Chicago - 2:00 PM - 3:00 PM

The Center for Autism and Neurodevelopment of Northwestern University Feinberg School of Medicine welcomes you to attend a lecture featuring: Richard L. Huganir, PhDBloomberg Distinguished Professor of Neuroscience and Psychological and Brain SciencesDirector, Solomon H. Snyder Department of NeuroscienceCo-Director, Brain Science InstituteJohns Hopkins University School of MedicineNeurotransmitter receptors mediate signal transduction at synaptic connections between neurons in the brain and the regulation of receptor function is critical for synaptic plasticity. My laboratory has been elucidating the molecular mechanisms underlying the regulation of AMPA receptors, the major excitatory neurotransmitters receptors in the central nervous system. We have found that AMPA receptors are extensively posttranslationally modified by phosphorylation, palmitoylation and ubiquination. Protein phosphorylation is a major form of AMPA receptor regulation and the receptors are phosphorylated on serine, threonine and tyrosine residues by many different protein kinases. We have shown that phosphorylation of the receptor regulates its ion channel properties and membrane trafficking and that receptor phosphorylation is critical for the expression of several forms of synaptic plasticity and for learning and memory. We have also identified a variety of AMPA receptor interacting proteins, including GRIP1/2, PICK1, GRASP1, SNX27, KIBRA, and SynGAP1 that interact with AMPA receptors and are necessary for their proper subcellular trafficking. This AMPA receptor complex is important for several forms of synaptic plasticity and learning and memory. These studies indicate that the modulation of receptor function is a major mechanism for the regulation of synaptic transmission and is a critical determinant of animal behavior. Recent evidence has indicated that AMPA receptor function may be disrupted in several neuropsychiatric disorders. Specifically, mutations in SynGAP, GRIP1 and GRASP1 as well as AMPA receptor subunits have been found to be associated with cognitive disorders including intellectual disability, autism, and schizophrenia. SynGAP1 loss of function mutations are now thought to underlie 1% of intellectual disabilities. Recently we have characterized these disease-associated SynGAP1 mutations to examine their effect on SynGAP protein function, AMPA receptor trafficking, synaptic plasticity and behavior and are developing potential therapeutic approaches to treat these devastating disorders. Dr. Richard Huganir is a Bloomberg Distinguished Professor of Neuroscience and Psychological and Brain Sciences and Director of the Solomon H. Snyder Department of Neuroscience at the Johns Hopkins School of Medicine where he is also the Co-Director of the Johns Hopkins Medicine Brain Science Institute. Dr. Huganir received his Ph.D. degree in Biochemistry, Molecular and Cell Biology from Cornell University in 1982 where he performed his thesis research in the laboratory of Dr. Efraim Racker. He was a postdoctoral fellow with the Nobel Laureate, Dr. Paul Greengard, at Yale University School of Medicine from 1982-1984. Dr. Huganir then moved to the Rockefeller University where he was an Assistant Professor of Molecular and Cellular Neurobiology from 1984-1988. Dr. Huganir moved to the Johns Hopkins University School of Medicine in 1988 as an Associate Investigator in the Howard Hughes Medical Institute and an Associate Professor in the Department of Neuroscience. Dr. Huganir was an Investigator with the Howard Hughes Medical Institute from 1988-2014. Dr. Huganir became the Director or the Solomon H. Snyder Department of Neuroscience in 2006. Dr. Huganir’s career has focused on synapses, the connections between nerve cells, in the brain. Dr. Huganir’s studies have shown that the regulation of receptor function is a major mechanism for the regulation of neuronal excitability and connectivity in the brain and is critical for many higher brain processes, including learning and memory, and is a major determinant of behavior. Moreover, dysregulation of these mechanisms underlie many neurological and psychiatric diseases including Alzheimer’s, ALS, schizophrenia, autism, intellectual disability, PTSD as well as in chronic pain and drug addiction. Dr. Huganir is currently the Chair of the Stanley Center for Psychiatric Research Scientific Advisory Committee and a recent member of the NIMH Council and on the NIH BRAIN Multi-Council Working Group. Dr. Huganir is a past President of the Society for Neuroscience and has served as Treasurer of the Society for Neuroscience. He has received the Young Investigator Award and the Julius Axelrod Award from the Society for Neuroscience, the Santiago Grisolia Award, the Goldman-Rakic Award, the Edward M. Scolnick Prize in Neuroscience and is a fellow of the American Association for the Advancement of Science, a member of the American Academy of Arts and Sciences, the National Institute of Medicine and the National Academy of Sciences.

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Nov

14

CANCELLED - CANCELED: Center for Autism and Neurodevelopment seminar - Roger Nicoll, MDCANCELED: Center for Autism and Neurodevelopment seminar - Roger Nicoll, MD

Chicago - 2:00 PM - 3:00 PM

The Center for Autism and Neurodevelopment of Northwestern University Feinberg School of Medicine welcomes you to attend a lecture featuring: Roger Nicoll, MDProfessor of Cellular Molecular PharmacologyUniversity of California, San Francisco

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Feb

09

Midwest Fragile X Research Exchange

Off-Campus - 6:00 PM - 8:00 PM

The Midwest Fragile X Research Exchange is an opportunity to share resources, explore and enhance collaborations, and frame program directions that align with federal funding agencies.

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Feb

10

Midwest Fragile X Research Exchange

Off-Campus - 8:00 AM - 7:00 PM

The Midwest Fragile X Research Exchange is an opportunity to share resources, explore and enhance collaborations, and frame program directions that align with federal funding agencies.

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Feb

11

Midwest Fragile X Research Exchange

Off-Campus - 8:00 AM - 12:00 PM

The Midwest Fragile X Research Exchange is an opportunity to share resources, explore and enhance collaborations, and frame program directions that align with federal funding agencies.

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