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Janghoo Lim, PhD

Associate Professor of Genetics and Neuroscience; Member, Program in Cellular Neuroscience, Neurodegeneration and Repair (CNNR)

Contact Information

Janghoo Lim, PhD

Lab Location

Mailing Address

  • 295 Congress Ave. BCMM 154E

    New Haven, CT 06510

    United States

Research Summary

There are two main research interests in our laboratory: 1) understanding the molecular basis of cellular pathology in neurodegenerative diseases, and 2) understanding the mechanisms of brain development, function and its associated neurological disorders

In particular, we have a long-standing interest in neurodegenerative disease research, both in understanding the molecular and cellular mechanisms that are responsible for neurodegeneration, and ultimately, translating these findings into the development of therapeutics. Our approach to understanding these diseases involves utilizing multiple different model systems, including mice, flies, and human patient-derived induced pluripotent stem cells, to comprehensively examine disease mechanisms. We focus on several specific neurodegenerative diseases including the polyglutamine diseases. Polyglutamine diseases are dominantly inherited neurodegenerative conditions caused by an expansion of the glutamine tract in the respective disease-causing proteins. Polyglutamine expansion makes the host protein toxic, resulting in the formation of mutant protein aggregates and cell death. We study two distinct polyglutamine diseases, named spinocerebellar ataxia type 1 (SCA1) and spinal and bulbar muscular atrophy (SBMA). SCA1 is a dominantly inherited disease characterized by the progressive degeneration of neurons, specifically those in the cerebellum and brainstem. SBMA is an X-linked progressive neuromuscular disease. There is no current cure or effective therapeutics for both of these diseases. In addition to studying the polyglutamine diseases, we also investigate the molecular and cellular mechanisms underlying pathogenesis in Alzheimer’s disease (AD) and related disorders using various model systems, including mice and patient-derived stem cell models.


Specialized Terms: Mechanisms of neural development; Neurological disorders; Neurodegenerative diseases

Research Interests

Mental Disorders; Developmental Disabilities; Neuromuscular Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Spinocerebellar Ataxias

Selected Publications