Anne Schaefer (scientist) facts for kids

Anne Schaefer is a leading scientist who studies the brain. She is a professor of Neuroscience and helps lead the Neuroscience department at the Icahn School of Medicine in New York City. She also directs the Center for Glial Biology there. Dr. Schaefer's research focuses on how our genes are controlled without changing the DNA itself (this is called epigenetics). She looks at how these controls affect brain cells, especially how special brain cells called microglia talk to nerve cells (neurons). Her main goal is to understand what causes brain disorders and find new ways to treat them by working with the epigenome.

Early Life and Education

Dr. Schaefer began her medical studies in Germany at Johannes Gutenberg University Mainz in 1996. She then continued her medical degree at Charite University Berlin. In 2001, she won a special scholarship to do research at The Rockefeller University in the United States.

At Rockefeller, she studied immunology, which is the science of how our body fights off sickness. She focused on a type of immune cell called B cells. Her research helped show that many antibodies made by young B cells can actually attack the body's own cells. These B cells are then removed during their development.

After her research, Dr. Schaefer completed a medical internship in New York City in 2003. She graduated from Charite University in 2004. She returned to Rockefeller University in 2004 for her postdoctoral training. This is advanced training after getting a Ph.D. or M.D. Here, she changed her focus to neuroscience, which is the study of the nervous system and brain. She explored how epigenetics affects how brain cells work.

Career and Research

Dr. Schaefer continued her research at Rockefeller University until 2011. That year, she started her own laboratory at the Mount Sinai School of Medicine. Today, she is a tenured professor there. This means she has a permanent teaching position. She also remains connected to Rockefeller University.

In 2017, Dr. Schaefer helped create the Center for Glial Biology at Mount Sinai. She is now a co-director of this center. In 2018, she became the vice-chair of Neuroscience at Mount Sinai.

Her lab, the Schaefer Lab, studies how epigenetics controls how brain cells change and grow. They also look at how epigenetics affects the way nerve cells (neurons) and microglia interact. Microglia are like the immune cells of the brain. A big goal of her lab is to find new ways to treat brain disorders by targeting the epigenome.

The Brain's Epigenome

In 2007, Dr. Schaefer published important research about tiny molecules called microRNAs (miRNAs). She showed that these miRNAs are very important for controlling how genes work in brain cells. She found that if a key enzyme (Dicer) that makes miRNAs was removed, brain cells in the cerebellum (a part of the brain) would die. This discovery suggested that problems with miRNAs might be linked to brain diseases where nerve cells break down.

Her work also showed that a problem with a specific protein complex (GLP/G9a) can lead to difficulties in learning and adapting to new situations. This protein complex helps control whether genes are "open" (active) or "closed" (inactive).

After starting her own lab, Dr. Schaefer continued to study how gene control affects brain function and behavior. In 2013, she published a paper showing that a specific miRNA, miRNA-128, controls how excitable nerve cells are and how mice move. When this miRNA was blocked, mice had unusual movements and severe seizures. Because of this important finding, Dr. Schaefer and her mentor, Dr. Paul Greengard, filed a patent. A patent protects their idea for using miRNA to treat movement disorders and seizures. Overall, Dr. Schaefer's work highlights how important it is to understand epigenetics and gene control for treating brain diseases.

Epigenetics and Autism

Dr. Schaefer's research has also helped us understand how epigenetics might play a role in Autism Spectrum Disorders (ASD). Her lab found that certain proteins, called BETs, control genes that are involved in behaviors seen in mouse models of ASD. When they blocked these BET proteins, they saw less gene activity in nerve cells and problems with how these cells worked. This suggests that the gene network controlled by BETs is important in ASD.

Dr. Schaefer and her team believe that ASDs are caused by problems in how gene networks are regulated. These problems can be influenced by both a person's genes and their environment. This idea fits with the many different factors linked to ASD in humans.

Epigenetics and Microglia

Another part of Dr. Schaefer's work looks at how epigenetics affects the brain's immune system, especially the brain's immune cells called microglia. In 2018, she and her team published a paper showing that epigenetics controls how microglia behave in different parts of the brain. They found that microglia in the cerebellum were very active at "eating" waste (called phagocytic activity), but microglia in the striatum (another brain area) were not.

Using a special technique she developed (called TRAP), they discovered that a protein complex (PRC2) was actively "silencing" genes in striatal microglia. This silencing stopped them from being very active. When they blocked PRC2, the striatal microglia became very active, even without dying nerve cells around. These findings show that epigenetics plays a key role in controlling microglia. This is important because overactive microglia can sometimes harm nerve cells in diseases.

To learn more, Dr. Schaefer worked with another research group. They found that the identity of cerebellar microglia was shaped by interactions with a molecule called CSF-1. If CSF-1 was removed, it affected the development of cerebellar microglia and how cerebellar nerve cells worked. However, it did not affect microglia in other parts of the brain.

Working with Pharmaceutical Companies

Besides her university research, Dr. Schaefer also works as a consultant for a pharmaceutical company called Neuroinflammation NewCo. She also helps on committees for other big companies like Eli Lilly and GlaxoSmithKline.

In 2011, Dr. Schaefer was part of a team that filed a patent for a new method called TRAP (Translating Ribosome Affinity Purification). This method helps scientists find out which genes are active in specific types of cells. It does this by isolating messenger RNA (mRNA) that is currently being used to make proteins. The TRAP technique is now widely used by scientists to find cells that are affected by diseases or to discover new targets for treating neurological disorders.

In 2013, Dr. Schaefer and her mentor, Dr. Paul Greengard, filed another patent. This one was for a way to treat or reduce seizures. They found that the microRNA miR-128 helps control how excitable nerve cells are and how people move. Their idea is to give patients miR-128 or something that increases its activity to help control nerve cell excitability. This treatment could be given in different ways, like injections into specific brain areas.

Awards and Honors

Dr. Schaefer has received many awards and honors for her important work:

• 1999–2003 Scholarship of the German National Merit Foundation
• 2001–2003 USA-Scholarship of the German National Merit Foundation
• 2003 Keystone Scholar Travel Award
• 2004 Summa cum laude, Charité University Berlin (This means she graduated with the highest honors)
• 2005 Hans-Hench Award 2005, German Society for Immunology, Germany
• 2006-2008 German Research Foundation DFG, Research Fellowship, Germany
• 2011 2010 NARSAD Young Investigator Award, USA
• 2012 named “Chrissy Rossi Investigator”
• 2012 Seaver Autism Center Research Award, USA
• 2012 NIH Director's New Innovator Award, USA
• 2014 Technology Development Fund Award, Mount Sinai Innovation, USA
• 2014 Cure Challenge Award, USA
• 2014 Kavli Frontiers in Science Fellow, The National Academy of Science, USA
• 2015 Harold and Golden Lamport Research Award, Mount Sinai, USA
• 2017 co-director, Center for Glial Biology, Mount Sinai School of Medicine, USA
• 2018 Inaugural NINDS Landis Award for Outstanding Mentorship, NIH, USA
• 2018 Inventor of the Year 2018 Award, Mount Sinai, USA
• 2019 Vice Chair of Neuroscience, Mount Sinai, USA
• 2019 Max Planck Sabbatical Award