Johns Hopkins MedicineSearching for Schizophrenia Genes Using Cutting-Edge Technologies

Unveiling the Genetic Underpinnings of Schizophrenia: A Leap Towards Precision Medicine

In a groundbreaking stride towards understanding and treating schizophrenia, Dr. Pan Li and her team at the Division of Neurobiology are harnessing the power of CRISPR/Cas9 genome editing to delve into the molecular intricacies of neuron cell development associated with the disorder. Backed by a significant grant from the National Institutes of Mental Health, this research not only aims to pinpoint the genetic variations contributing to schizophrenia but also opens avenues for precise diagnostics and innovative therapeutic interventions. By focusing on rare gene variants identified by the SCHEMA consortium, Li’s lab is at the forefront of translating genetic insights into clinical realities, potentially transforming how we diagnose and treat schizophrenia.

Key Points:

• Dr. Pan Li, with more than a decade of experience in psychiatry research, is now leading a project to investigate the development of neuron cells in schizophrenia using CRISPR/Cas9 genome editing.
• The project received funding from the National Institutes of Mental Health, highlighting its potential impact on understanding and treating schizophrenia.
• Li’s lab will introduce rare gene variants associated with schizophrenia into human induced pluripotent stem cells (iPSCs), then differentiate these into neurons to study their behaviors and electrophysiological profiles.
• Seven genes (CUL1, HERC1, SETD1A, SP4, GRIN2A, GRIA3, and CACNA1G) identified for their significant risk contributions to schizophrenia will be the focus of this detailed study.
• The research aims to illuminate the cellular and molecular mechanisms underlying schizophrenia, offering new diagnostic and therapeutic targets.
• This study leverages the SCHEMA consortium’s findings, emphasizing the importance of collaborative, large-scale genetic analyses in understanding complex psychiatric disorders.
• The ultimate goal is to improve schizophrenia diagnosis and treatment by identifying specific genetic variants that could indicate the presence of the disease, moving towards a precision medicine approach.
• Duan’s team’s success with CRISPR/Cas13d in treating Huntington’s disease in a mouse model highlights the potential of CRISPR technology in addressing neurodegenerative disorders, providing hope for similar advancements in schizophrenia treatment.

“We are trying to aid schizophrenia diagnosis and also future treatment. Evaluating the rare variants identified by the SCHEMA consortium will help us evaluate how important they are to schizophrenia so in the future, if a patient has one of these variants, we could more clearly diagnose the condition.”
– Pan Li, Director of the Pathogenic Neurobiology Laboratory within the Division of Neurobiology, Johns Hopkins

More on Genetics