Catherine (Grace) Burns Research Technician
My research interests currently lie in creating novel advanced genetic tools to facilitate gene function analysis using fruit flies. As part of my work with the Gene Disruption Project, I generate diverse genetic tools through CRISPR mediated homologous recombination. These include GAL4 loss-of-function alleles that can be used to monitor the expression pattern and dynamics of the targeted gene. I also generate GFP protein fusion alleles which allow for sophisticated experiments that identify interaction partners and subcellular localization of the products of the targeted genes. I am also currently working on developing means to increase versatility of the UAS-human cDNA library that constitutes part of the Drosophila Humanization Project in collaboration with the Yamamoto lab. As a special interest, I am interested in the molecular mechanism of Progressive Multiple Sclerosis. This is a later stage of Multiple Sclerosis where neurodegeneration occurs, independent of relapses of the immune system. This model of MS allows for teasing out the root causes of neurodegeneration in MS independent from auto-immune mechanisms.
Ali Hosseini Bereshneh Postdoctoral fellow
I am interested in studying rare and undiagnosed neurogenetic disorders based on sequencing data, bioinformatic analyses, molecular dynamic simulations, and animal modeling.
In collaboration with scientists and researchers in the Bellen Lab, we generate models for undiagnosed disorders in Drosophila to probe the affected molecular pathways and participate in gene discovery. We create mutations in flies of the human homologues genes using CRISPR technology, determine the expression pattern of genes and determine where the proteins are localized, attempt rescue of the fly mutants with the human reference cDNA, and assess if the variants found in the patients fail to rescue the mutants. These studies also rely on metabolomic studies, behavioral experiments, electrophysiological experiments, single-cell sequencing data, as well as proteomic studies.
Megan Cooper Research Technician
I am interested in studying rare and undiagnosed neurological diseases. My primary focus is studying the roles that phosphate metabolism plays in neuronal health. Inositol pyrophosphates (PP-IPs) are high-energy signaling molecules, which serve important roles in many biological processes such as energy metabolism and exocytosis in neurons. In mammals, the inositol hexakisphosphate kinase family (IP6Ks) consists of IP6K1-3 and generates PP-IPs from inositol phosphates (IPs), using ATP as phosphate group donors. Though phosphate metabolism and PP-IP synthesis are poorly understood in Drosophila, this model provides many advantages for studying the functions of these high-energy signaling molecules and their contributions to neurological diseases
Jennifer Deger Graduate student
I want to help unravel the mechanisms underlying neurodegenerative diseases that occur with aging, especially Alzheimer's disease. Flies are an incredibly powerful model organism to study human disease. They are extremely genetically tractable, they have complex behaviors and a true central nervous system, and you don't have to wait very long for a fly to get very old! I'm especially interested in how glial biology and the blood-brain barrier change in fly models of Alzheimer's disease and how we can use that knowledge to help human patients.
Mingxi Deng Postdoctoral fellow
Millions of people worldwide are affected by rare genetic diseases, yet efficient diagnostic methods are lacking. By utilizing Drosophila and a range of genetic tools, I am able to model specific mutations in vivo and uncover the links between genetic mutations and the patient phenotypes. This modelling also facilitates the study of further pathological mechanisms and potential therapies. Notably, many rare diseases are associated with neurological symptoms, such as neurodevelopmental delays and epilepsy. Specifically, lipidomic disorders are suggested to play a significant role in neurological diseases, including Alzheimer and Parkinson disease. Therefore, I am also interested in exploring the systemic effects of lipidomic alterations in Drosophila neurological disease models.
Prajakta Deshpande Postdoctoral fellow
I am interested in understanding the underlying mechanism of neurodegenerative diseases and rare and undiagnosed neurological diseases. Drosophila is an ideal model system to study human diseases. My research focuses on identifying novel human disease genes by using humanized fly models, further dissecting the disease-causing mechanisms and exploring the potential therapeutic strategies
Ziyaneh Ghaderpour Taleghani Research Technician
I am interested in understanding what rare neurological diseases can teach us about mechanisms of neuronal function and cognition. Under the guidance of Dr. Lindsey Goodman, I am studying the cargo shuttling importin Transportin 2 (Tnpo2) and its role in human health, particularly within the brain. TNPO2 disease is rare and characterized by various physical and neurological defects; because the mechanisms of this disease are not clear, there are few effective treatments available for patients. To understand how TNPO2 functions in health and disease, I am focused on characterizing variant proteins and their aberrant function in both Drosophila and human cell culture. My hope is that our findings can help patient families understand their disease, and that our work can be used by health professionals to provide more effective patient therapies.
Lindsey Goodman Postdoctoral fellow
I am interested in mechanisms underlying neurodegenerative diseases in juveniles and in an aging population. Drosophila is an ideal model system to test potential disease genes and to define degenerative effects in a tissue-specific manner. My research focuses on defining cellular/molecular mechanisms underlying these effects. Drugs targeting defined pathways can further be tested in Drosophila, aiding in the development of potential therapies for patients.
Mingxue Gu Postdoctoral fellow
My research interest lies in understanding how dysregulation of lysosomal signaling pathways and lysosome physiology contribute to neurological and neurodegenerative diseases. Using Drosophila Melanogaster as a model, I am investigating the roles of lysosomal genes in the pathogenesis and progression of Alzheimer's and Parkinson's diseases, and seeking to identify potential therapeutic targets.
Bhagyashree Dhananjay Kaduskar Postdoctoral fellow
I am interested in utilizing the power of Drosophila genetics and highly conserved pathways to model and study human diseases. My primary focus is to study disease loci that affect lipid metabolism and cause neurological and muscle pathology.
Oguz Kanca Assistant Professor
Whole exome sequencing and personalized medicine prompted the need for efficient methods to test the functionality of gene variants. I am interested in establishing techniques and tools to expedite the analysis of functionality of human gene variants, using the power of Drosophila genetics.
Agnes Liang Lab manager
Guang Lin Assistant Professor
I am interested in studying the molecular function of genes that cause neurodegenerative diseases. In collaboration with other members in the lab, my research has focused on VAPB, frataxin and PLA2G6, which cause Amyotrophic Lateral Sclerosis (ALS), Friedreich's Ataxia (FA) and Neurodegeneration with brain iron accumulations (NBIAs), respectively. We have generated Drosophila loss-of-function mutations for each of them and are currently studying the phenotypes associated with loss of these genes. By studying the molecular mechanisms that underlie the identified phenotypes, we hope to gain insight in the clinical pathology of these neurodegenerative diseases.
Wen-Wen Lin EM Technician
Zachary Long Research Technician
Shenzhao Lu Postdoctoral fellow
I have been studying actin regulatory genes and their associations with neurodevelopmental diseases. Drosophila serves as an ideal model organism to identify novel disease-associated genes and elucidate the underlying molecular mechanisms. By combining genetics, molecular biology, electrophysiology, and microscopy, I aim to explore the involvement of actin dynamics in the pathogenesis of neurodevelopmental disorders, with a particular focus on epilepsy. I am interested in advancing our understanding of neurodevelopment-associated epilepsy and providing therapeutic strategies.
Mengqi Ma Postdoctoral fellow
Early onset rare diseases may be a more severe manifestation of neurodegenerative disorders in advance. I am interested in identifying genes involved in undiagnosed rare diseases using Drosophila as a model. I hope to take advantage of this simplified but sophisticated system to look into conserved mechanisms, so as to help understanding and therapy of the diseases.
Ye-Jin Park Graduate student
My research focuses on neural development and neurological diseases, with the goal of addressing two main questions: 1) How transcription factors regulate neural wiring and circuit formation, and 2) How toxic proteins associated with Alzheimer’s disease disrupt neuronal function and affect peripheral tissues. To investigate these questions, I utilize Drosophila genetics and single-cell sequencing technologies, under the guidance of Dr. Hugo Bellen and Dr. Hongjie Li. Through these innovative approaches, I aim to advance our understanding of complex neural circuits and the mechanisms underlying neurodegenerative diseases.
Burak Tepe Postdoctoral fellow
The Integrator complex regulates the processing of nascent RNAs transcribed specifically by RNA polymerase II (RNAPII). Integrator complex comprises 15 subunits of which variants in four are associated with rare Mendelian diseases currently. Variants in Integrator Complex Subunit 1 (INTS1; MIM#: 611345) and Integrator Complex Subunit 8 (INTS8; MIM#: 611351) have been associated with rare autosomal recessive human neurodevelopmental syndromes. Recently, Integrator Complex Subunit 13 (INTS13; MIM#: 615079) variants have been associated with an autosomal recessive ciliopathy and we have shown that biallelic variants in Integrator Complex Subunit 11 (INTS11) cause severe developmental delay, intellectual disability, language delay, and motor development disorders with brain MRI defects. However, the rest of the complex subunits are not associated with any human disease condition yet. Moreover, the rare diseases that variants in individual subunits cause have non overlapping symptoms, suggesting specific roles for individual subunits in different cell types. My research focuses on dissecting cell type and tissue specific functions of the individual Integrator complex subunits in development and disease.
Michal Tyrlik Graduate student
I am interested in rare and undiagnosed diseases and what they can teach us about biology. I use the fruit fly to model genetic variations in patients suffering from genetic diseases and unravel the underlying cellular dysfunction. I seek to leverage insight from rare diseases to contribute to our knowledge of fundamental biology and inform pathways broadly important to human health. I am excited by the opportunities that will bring to our ability to diagnose and treat rare and common diseases alike.
