Primary Research Focus
The Loukil Lab studies a tiny sensory organelle of a few microns called the primary cilium that is essential for signal transduction and embryonic development. Cilia dysfunction causes a distinct set of hereditary diseases in humans, commonly known as ciliopathies. Patients with mutations in ciliary genes often have severe neurological abnormalities ranging from brain malformations to cognitive impairments. Despite their relevance in health and disease, ciliary signaling and dynamics are still poorly understood, especially in the brain.
The Loukil Lab focuses on understanding the molecular processes that govern trafficking within the cilium and its structural stability. The team also explores how disruptions in cilia regulation affect downstream signaling pathways and lead to human disease, particularly neurological manifestations. These questions are vital for advancing knowledge of the cilium’s therapeutic potential.
The lab’s research employs a wide range of tools, including molecular biology, unbiased screening strategies (CRISPR-based, in vivo BioID), mouse models and patient cells. Additionally, the lab makes extensive use of super-resolution microscopy, live imaging and deep quantitative analysis.
About the Loukil Lab
Lab Projects and News
Mechanisms of Primary Cilia Dynamics
The dynamics of primary cilia are often disrupted in a wide range of severe developmental diseases in humans. Despite their significance, we know relatively little about the molecular mechanisms and extrinsic cues that mediate cilia trafficking and integrity. Previously, we discovered a unique modulator of these processes, found in an atypical compartment of the centrosome and mutated in a neurodevelopmental disorder. Using this model, the primary goal is to identify the molecular networks that determine how and why a signaling molecule gets into, moves through and exits a cilium. We also aim to uncover what triggers the structural remodeling of a cilium and how it varies in normal and pathological conditions.
Neural Signaling of Primary Cilia in the Brain
Cilia dysfunction causes a variety of developmental syndromes, often accompanied by severe neurological symptoms and cognitive impairment, the etiology of which remains unknown. Even though most neurons have a primary cilium, it is still unclear how this organelle mediates brain function and connectivity.
The main goal of this project is to uncover the underexplored roles of neuronal cilia in the brain. To begin with, we identified the in vivo protein composition of these organelles and found several neural networks that were previously unknown to be enriched in cilia. Using these exciting findings, the lab is focused on three major questions:
- What are the signals that the neuronal cilium can detect and process?
- How do these signals get converted by the cilium?
- What are the downstream messengers and their effects on the neuron’s function and connectivity?
Our long-term goal is to develop novel strategies for fine-tuning ciliary function to improve neurological manifestations in human disease.
Meet the Team
Elizabeth Menzel joined the Loukil Lab in 2022. She helps with immunofluorescent studies involving primary cilia and cell signaling. She holds a bachelor’s degree in biochemistry and mathematics from Augustana University.