June 2024

PSYCHIATRY

FEINBERG SCIENTISTS TO LEAD GRANT STUDYING AUTISM, SCHIZOPHRENIA

Featuring: Peter Penzes PhD,

Northwestern Medicine scientists have been awarded a $17 million grant to study genetic causes of autism and schizophrenia, with the aim of developing new drugs to treat the conditions.

The grant, from the National Institutes of Mental Health’s Silvio O. Conte Centers for Basic Neuroscience or Translational Mental Health Research, will fund four projects over five years focused on understanding the neural mechanisms underlying the conditions.

Peter Penzes PhD, director of the Center for Autism and Neurodevelopment and the Ruth and Evelyn Dunbar Professor of Psychiatry and Behavioral Sciences, will oversee the research projects at Feinberg.

“This grant will cover topics from genes to drugs in autism and schizophrenia,” Penzes said. “We will study genetic variations, some of which are causative, and set up drug screening methods, as well as try to understand the mechanism of how the mutation leads to brain dysfunction and abnormal development.”

​The research initiative is divided into four parallel projects:
  • Led by Penzes, the first project focuses on understanding the molecular structure of patient mutations which lead to autism and schizophrenia, including how genetic mutations change proteins in an affected individual. Penzes and his collaborators will also deploy drug screens to evaluate compounds which may rescue proteins altered by these mutations.
  • The second project will explore methods to develop human-induced pluripotent cell derived neurons and organoids, with the goal of using these “mini-brains” to study the effects of autism and schizophrenia in the lab. Al George, Jr., MD, the chair and the Alfred Newton Richards Professor of Pharmacology, along with Alicia Guemez-Gamboa, PhD, assistant professor of Neuroscience, will lead this project.
  • Anis Contractor, PhD, the Wendell Krieg Professor of Neuroscience, will the lead the third project, which will closely examine neural circuits in mice. In this phase, investigators will study how neurons connect to one another to send signals, as well as how common genetic mutations in autism affect these circuits.
  • The final phase will be conducted in collaboration with Gavin Rumbaugh, PhD, professor at the Herbert Wertheim University of Florida Scripps Institute for Biomedical Innovation and Technology. Rumbaugh and his collaborators will examine how mouse behavior is affected by genetic mutations in autism and schizophrenia as well as various drugs designed to treat the condition.
The grant represents a huge step forward in understanding autism and schizophrenia, Penzes said.

“Far-reaching research initiatives like these are only possible through institutional collaboration and support from the wider community,” Penzes said. “There are many questions still left unanswered, and we hope to continue this work to expedite the development of treatments for these conditions.”
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​The Link Between Autism and Schizophrenia

Roughly one percent of the world’s population, or more than 75 million people, have autism spectrum disorder, according to the Centers for Disease Control and Prevention (CDC).

About 24 million people worldwide live with schizophrenia, according to the World Health Organization.

When autism was first described in the medical literature in 1911, it was believed to be a form of childhood schizophrenia. Although the disorders are now conceptualized to be distinct, similar genetic mutations drive both conditions, Penzes said.

“Although these are different diseases, there is a lot of genetic overlap,” Penzes said. “There is a kind of continuum between autism and schizophrenia, which we are excited to explore further.”
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This article was originally published in the Northwestern University Feinberg School of Medicine  on June 3,  2024.
Peter Penzes PhD, director of the Center for Autism and Neurodevelopment, professor of Neuroscience and of Pharmacology, and the Ruth and Evelyn Dunbar Professor of Psychiatry and Behavioral Sciences, will lead the research initiative at Feinberg. 

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