Current Lab Members
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Emily Bates, Principal Investigator
Research interests: We use mutations that are found in human patients to give us clues into the basic biology that underlies normal development. For example, mutations in ion channels that cause syndromes of birth defects. We made similar mutations in fruit flies and mice to discover that ion channels are important for regulating bone morphogenic protein (BMP) signaling. Similarly, mutations in a basic building block of a neuronal cytoskeleton, Tuba1a, give us insights into how Tuba1a interacts with other proteins to regulate axon outgrowth and neuronal migration during development. Outside the lab, I like to play with my daughter, run, ski, hike, and play violin. |
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Georgia Buscaglia, Doctoral Candidate
Research project: Elucidating the role of a brain specific tubulin, Tuba1a in neuronal function and development. In neurons, the microtubule cytoskeleton supports the formation of elaborate neuronal morphologies, facilitates axon pathfinding and synapse formation, and allows for intracellular trafficking. The alpha tubulin gene, TUBA1A, encodes the most highly expressed alpha tubulin protein in the brain. TUBA1A is expressed in developing post-mitotic neurons, and mutations to this gene in humans result in severe developmental brain malformations, called tubulinopathies. We showed that an Asparagine to Aspartic acid substitution at residue 102 (Tuba1aN102D) results in severe brain malformations and perinatal death in mice that are homozygous for this mutation. Recently we have shown that mice heterozygous for this mutation (Tuba1aN102D/+) display more subtle disruption of brain development, specifically impairing axon pathfinding through large brain commissures. Additionally, Tuba1aN102D/+ mice develop an adult-onset behavioral motor deficit, that is not accompanied by neuronal cell death. Thus, we are using the Tuba1aN102D allele to interrogate the role that TUBA1A plays in neuronal microtubule function, in the context of both brain development and aging. Most recent publication: Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies in the cytoskeleton. |
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Jayne Aiken, PhD
Research Project: Using Tubulinopathy patient mutations to understand how microtubules contribute to neuronal architecture and brain development. My thesis work focuses on unveiling the mechanism underlying brain malformations found in patients harboring mutations in their tubulin genes. My research questions have lead me to learn and employ numerous model systems including in utero electroporation to discern if the patient-derived mutations dominantly alter neuronal migration, in vitro rat primary cortical neurons to assess cellular morphology, and budding yeast to investigate how patient mutations impact the function of tubulin proteins. This research has provided valuable insight into the mechanism behind the most common α-tubulin variant associated with disease, TUBA1A-R402C/H, revealing that it disrupts association with an important microtubule motor, dynein, and that the level of disruption scales with mutant abundance in the cell. This work provides the essential molecular link from mutation to the harmful brain malformation. Most recent publication: TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity. |
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Laura George, PhD Student
Research Project: The role of Ion channels in development through Drosophila melanogaster In my project I am investigating the role of ion channels in development using Drosophila melanogaster. The Drosophila wing is acutely sensitive to changes in developmental pathways, and in a screen of ion channels expressed in the wing we have identified 57 ion channels that cause wing defects when disrupted. I am investigating the developmental pathways that these ion channels impact and the mechanisms by which they impinge upon these pathways. Outside of the lab I enjoy hiking, running, reading, photography, and playing the harp. Most recent publication: Ion Channel Contributions to Wing Development in Drosophila melanogaster. |
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Trevor Isner, PRA
Research Project: Ion channels in morphological development The project I am working on primarily focuses on studying the underlying mechanisms driving diseases like Anderson-Tawil syndrome and how specific ion channels play a role in development. By investigating mutations that occur within the ion channel Kir2.1, I am hoping to elucidate some of the mystery behind how ion channels and signaling proteins like BMP and Wnt work together to result in the phenotypes seen in patients with these syndromes. Using mice as a model organism combined with prior research done in Drosophila melanogaster, we can then apply these findings to human patients. Outside of the lab I enjoy activities like hiking, snowboarding, playing guitar and caring for my own model organisms (cats and axolotls). |
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Yunus Ozekin, PhD Student
Research Project: The role of Ion channels in development in mice. |
Lab Alumni
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Giri Dahal, PhD
Publications associated with the Bates Lab: |