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In a groundbreaking case of personalized medicine, researchers rapidly developed a gene-editing therapy to treat a newborn with a rare and deadly liver disorder—carbamoyl-phosphate synthetase 1 (CPS1) deficiency. Using CRISPR base-editing tools, the team created a bespoke therapy in just six months after diagnosis. The therapy helped stabilize the infant’s health, allowing increased protein intake and reducing medication needs—even through viral illnesses that previously posed life-threatening risks.

What made this fast-track treatment possible? Mice. Specifically, gene-edited house mice played a critical role in validating the therapy before it reached the patient. Researchers engineered mice to carry the same human genetic mutation, enabling them to test both the safety and efficacy of the customized treatment. Without this preclinical mouse model, such a rapid and precise intervention would have been far riskier and less likely to receive regulatory approval.

Notably, one of the study’s authors is also a center director for the Mutant Mouse Resource & Research Centers (MMRRC), highlighting the vital connection between mouse model infrastructure and clinical innovation. This case not only shows how deeply intertwined mouse genetics are with human health breakthroughs but sets a new bar for how personalized medicine can move from bench to bedside—fast.


Paper: https://www.nejm.org/doi/full/10.1056/NEJMoa2504747

A recent study published in The Journal of Neuroscience has provided new insights into the role of Dopamine Receptor 2 (D2R) in motor control. Researchers from the Korea Institute of Science and Technology and Seoul National University used optogenetics—a technique that uses light to control neuron activity—to selectively activate D2R in animal models. Their findings revealed that D2R has a more complex role in regulating movement than previously understood, which could have significant implications for developing treatments for movement disorders like Parkinson’s disease.

This study is notable as the first 2025 publication using our mouse model. The use of our models highlights the critical role these models play in studies requiring precise genetic control to investigate complex brain functions.

Understanding how D2R influences motor control could pave the way for more targeted therapies that improve patients' quality of life. Current treatments for disorders like Parkinson’s often rely on broad approaches that can lead to side effects, such as involuntary movements or medication tolerance. By providing a more detailed picture of D2R’s function, this research may help guide the development of therapies that restore motor function while minimizing adverse effects.

In addition to advancing knowledge of the brain's motor circuits, the study demonstrates how access to advanced research tools, such as optogenetics and well-characterized mouse models, can accelerate discoveries that translate into potential medical breakthroughs. This type of research represents a critical step toward more effective, personalized care for individuals living with motor disorders.

Source: Optogenetic Control of Dopamine Receptor 2 Reveals a Novel Aspect of Dopaminergic Neurotransmission in Motor Function


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Jun 18 to Jun 23, 2025
San Jan, PR
Society for Developmental Biology 84th Annual Meetin
Aug 18 to Aug 23, 2025
Virtual - Bar Harbor, ME
Whether you're new to the field or a seasoned researcher looking to stay current with the latest trends, this workshop offers an in-depth exploration of best practices in laboratory mouse colony management, blending theory with practical insights to help you achieve the highest standards of rigor and reproducibility in your research.
Oct 13 to Oct 18, 2025
Virtual & Bar Harbor, ME
This course will cover the fundamentals of quantitative behavior analysis, machine learning, and data science. Through a combination of scientific lectures and hands-on training, you’ll learn how to implement machine learning methods for behavior quantification and modeling, gaining insights and skills that will advance your research.

Welcome to the Mutant Mouse Resource & Research Centers (MMRRC) Website

The MMRRC is the nation’s premier national public repository system for mutant mice. Funded by the NIH continuously since 1999, the MMRRC archives and distributes scientifically valuable spontaneous and induced mutant mouse strains and ES cell lines for use by the biomedical research community. The MMRRC consists of a national network of breeding and distribution repositories and an Informatics Coordination and Service Center located at 4 major academic centers across the nation. The MMRRC is committed to upholding the highest standards of experimental design and quality control to optimize the reproducibility of research studies using mutant mice. The MMRRC is supported by the Office of Research Infrastructure Programs (ORIP) in the Office of the Director at NIH. More than 60,000 mutant alleles are maintained as live mice, cryopreserved germplasm, and/or mutant ES cells. Live mice are supplied from a production colony, from a colony recovered from cryopreservation, or via micro-injection of ES cells. An MMRRC facility may offer cryopreserved material for resuscitation at the recipient scientist's institution.