Anne Schaefer

Anne Schaefer is a neuroscientist, professor of Neuroscience, vice-chair of Neuroscience, and director of the Center for Glial Biology at the Icahn School of Medicine at Mount Sinai in New York City. Schaefer investigates the epigenetic mechanisms of cellular plasticity and their role in the regulation of microglia-neuron interactions. Her research is aimed at understanding the mechanisms underlying various neuropsychiatric disorders and finding novel ways to target the epigenome therapeutically.

Early life and education Schaefer started her medical training at Johannes Gutenberg University Mainz in Germany from 1996 until 1999. Schaefer continued her education by pursuing her MD at the Charite University Berlin, in Germany. She worked under the mentorship of Dr. Ralf Ignatius and then in 2001, Schaefer won the USA-Scholarship of the German National Merit Foundation and to pursue a research internship at The Rockefeller University. In her research, she helped discover that 55-75% of the antibodies produced by immature B cells are actually auto-reactive and these B cells are removed from the population during two discrete check points in B cells development.

After her research internship, Schaefer stayed in New York City to complete a Medical Internship at Weill Cornell Medical College within the Sloan Kettering Cancer Center in 2003. Schaefer is currently a tenured professor in the Department of Neuroscience and Psychiatry at the Friedman Brain Institute at Mount Sinai School and remains an adjunct faculty member at Rockefeller University. In 2017, Schaefer co-founded the Center for Glial Biology at Mount Sinai and is now the co-director of the center alongside Dr. Patrizia Casaccia. Since loss of miRNA led to cerebellar degeneration, her findings highlight the potential role for dysregulation of miRNAs in neurodegenerative diseases. Histone methyltransferases are a key regulator in gene expression. They manipulate the state of DNA, which can be either open, referred to as euchromatin or closed, referred to as heterochromatin. She found that a deficiency in argonaute 2 (a gene known to regulate the generation of miRNA) in the dopamine receptor 2 (Drd2) positive cells in the striatum caused a decrease in the motivation to seek cocaine. When they suppressed this miRNA, aberrant motor patterns and fatal epilepsy resulted. When they suppressed BET proteins they found decreased neuronal gene expression and neuronal dysfunction which suggested a role for the BET-controlled gene network in ASD.

Epigenetics and microglia Another facet of Schaefer's work is understanding the impact of epigenetic regulation on neuroimmunity, with a particular focus on the innate immune cells of the brain, microglia. They found that baseline phagocytic activity of microglia was high in the cerebellum but low in the striatum. They found that cerebellar microglial identity was driven by interactions between CSF-1 and the CSF-1 receptor, and was not reliant on the alternate CSF-1R ligand, IL-34. The TRAP (Translating Ribosome Affinity Purification) methodology that is described in this patent provides a way to detect genes that are co-regulated within or across cell types, as well as discover candidate gene targets for treating specific neurological disorders and screen for modulators of those candidate genes.

In 2013, Schaefer and her postdoctoral advisor, Dr. Paul Greengard, filed a patent for a therapeutic strategy to treat or reduce the likelihood of seizures. Schaefer and Greengard found that the microRNA miR-128 is involved in modulating neuronal excitability and motor activity. 2012 named “Chrissy Rossi Investigator” 2012 Seaver Autism Center Research Award, USA 2014 Technology Development Fund Award, Mount Sinai Innovation, USA 2014 Kavli Frontiers in Science Fellow, The National Academy of Science, USA 2018 Inventor of the Year 2018 Award, Mount Sinai, USA 2019 Vice Chair of Neuroscience, Mount Sinai, USA 2019 Max Planck Sabbatical Award

Selected publications

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