Northwestern University Feinberg School of Medicine
Center for Genetic Medicine
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Events

Jul

25

Alzheimer's Disease Seminar Series: Memory and Attention: The Back and Forth

Chicago - 12:00 PM - 1:00 PM

Kia Nobre, Ph.D. | Director of Oxford Centre for Human Brain Activity | Chair of Oxford Neuroscience Strategy Committee | Professorial Fellow, St Catherine's College, Oxford | Head of the Brain and Cognition Lab

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Aug

19

Distinguished Simpson Querrey Center for Epigenetics Lecturer: Stuart L. Schreiber, PhD

Chicago - 2:00 PM - 3:00 PM

The Simpson Querrey Center for Epigenetics presents:

Stuart L. Schreiber
Co-Founder, Broad Institute
Howard Hughes Medical Institute Investigator
Morris Loeb Professor of Chemistry and Chemical Biology
Harvard University

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Sep

10

H Foundation Basic Science Symposium: Chromatin Biology and Cancer Heterogeneity

Chicago - 8:15 AM - 4:00 PM

On Tuesday, September 10, the Basic Science Programs of the Robert H. Lurie Comprehensive Cancer Center of Northwestern University will host a one-day symposium on the topic of "Chromatin Biology and Cancer Heterogeneity". The agenda features world renowned leaders in the field of cancer and physical science. This program is made possible through the generous support of The H Foundation.

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Sep

25

BMG Guest Seminar Speaker: Judd F. Hultquist, PhD

Chicago - 10:00 AM - 11:00 AM

The Department of Biochemistry and Molecular Genetics presents:

Judd F Hultquist, PhD
Assistant Professor of Medicine (Infectious Diseases)
Robert H. Lurie Medical Research Center

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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 Pt ek, MD
John C. Coleman Distinguished Professorship in Neurodegenerative Diseases
Professor of Neurology
University 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 Pt ek 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, Pt ek 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). Pt ek 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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Nov

11

BMG Distinguished Lecturer: Geeta Narlikar, PhD

Chicago - 10:00 AM - 11:00 AM

The Department of Biochemistry and Molecular Genetics presents:

Geeta Narlikar, PhD
Professor of Biochemistry and Biophysics
Lewis and Ruth Cozen Chair
University of California, San Francisco

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Nov

25

SQE Distinguished Lecturer: Yi Zhang, PhD

Chicago - 10:00 AM - 11:00 AM

The Simpson Querrey Center for Epigenetics presents:

Yi Zhang, PhD
Fred Rosen Professor, Department of Genetics & Pediatrics, HMS & BCH
Investigator, Howard Hughes Medical Institute





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Nov

25

Serotonergic Monitoring of Peripheral Inflammation: Clues to an Autism Treatment?

Chicago - 4:00 PM - 5:00 PM

Randy D. Blakely, Ph.D.
Executive Director of FAU Brain Institute
Professor of Biomedical Science
Florida Atlantic University

Epidemiological, post-mortem and gene network analyses have pointed to changes in inflammatory signaling pathways as a contribution to risk of autism. How such changes lead to alterations in brain development and function remain ill-defined. Previously, we identified an IL-1R activated p38 MAPK signaling pathway as central to the posttranslational control of serotonin signaling via modulation of presynaptic serotonin transporter (SERT) function, consistent with recent findings of significant expression of Il-1Rs by serotonin neurons. The possibility that an IL-1R/p38 MAPK/SERT signaling pathway might have disease relevance became of interest with our identification in subjects with autism of multiple, rare, hyperfunctional SERT coding variants that display constitutive p38 MAPK-dependent activation. With a knock-in mouse expressing the most common of these variants, SERT Ala56, we demonstrated elevated CNS serotonin clearance in vivo, and demonstrate changes in CNS and GI physiology and behavior consistent with constitutive-activation of SERT function. Recently, using brain penetrant, isoform-specific, p38 MAPK inhibitors, as well as conditional, serotonin neuron-specific elimination of p38 MAPK, we have been able to normalize multiple changes in these mice. Together, our studies point to the normal use of an IL-1R/p38 MAPK signaling pathway targeting SERT in serotonin neurons to modulate behavior in response to CNS and/or peripheral innate immune system activation. Inappropriate or excessive activation of this pathway during early life may contribute to one or more facets of autism that may be manipulated through pharmacological p38 MAPK inhibition.

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Dec

06

BMG Distinguished Lecturer: Karen Vousden, PhD

Chicago - 10:00 AM - 11:00 AM

The Department of Biochemistry and Molecular Genetics presents:

Karen Vousden, PhD
Chief Scientist, CRUK
Group Leader, Francis Crick Institute, London

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