Stefka Tasheva

Stefka Tasheva

School of Biomedicine

Faculty of Health and Medical Sciences


Dr Stefka Mincheva Tasheva
2017-present NHMRC Grant-Funded Researcher A, University of Adelaide, Adelaide
2015 - 2016 Postdoctoral Research Fellow University of Queensland, Brisbane
2011 - 2014 Postdoctoral Research Fellow University of Lleida, Spain.

Research Interests:
Neuroscience, Behaviour and Brain Health Cell Biology Cell Development, Proliferation and Death Cellular Nervous System Central Nervous System Peripheral Nervous System

Dr. Stefka Mincheva-Tasheva is a postdoctoral researcher in Prof. Paul Thomas’ Genome Editing laboratory at The University of Adelaide. Her research interest and expertise centers around the identification and characterisation of the molecular mechanisms governing physiological processes during nervous system development and disease.

Dr. Tasheva completed her Ph.D. in Health Sciences in 2011 at the University of Lleida (UdL), Spain. Her dissertation explored the signalling pathways controlling motor neuron survival during spinal cord development and in Spinal Muscular Atrophy. During her first postdoctoral training at UdL, she contributed to the characterisation of the molecular basis for Friedreich ataxia (FRDA) and discovered a new therapeutic target to restore the symptoms of this progressive disease. Then Stefka undertook a second post-doctoral position at The University of Queensland where she investigated the role of cellular tight junctions in Type II Diabetes.

Dr. Tasheva joined Prof. Thomas’ lab in 2017 and her ongoing research expands on animal disease modelling for identification of the molecular mechanism and therapeutic strategies for a very intriguing epileptic syndrome called PCDH19-Clustering Epilepsy (PCDH19-CE). The objective of her project is to investigate the possibilities for using gene therapy to treat the disease. To this end, she together with Prof. Thomas have developed a unique Pcdh19 mouse model that mimics the genetic changes that cause epilepsy. Using this pre-clinical model, she is working to identify when pathological changes first occur in the brain of the affected females and whether these lesions are reversible and, if so, the latest developmental time point by which genetic intervention must occur.

Title: Genetic therapy- a battle against PCDH19-Clustering Epilepsy

Funding scheme: FND001545: PCDH19 Syndrome Research Grants

Description: Our research project aims to develop innovative treatment strategies for PCDH19-Clustering Epilepsy (PCDH19-CE). This condition primarily affects girls from infancy and generally responds poorly to standard medications. To develop new treatments for PCDH19-CE, we need to understand when and how brain development is altered in affected individuals. Using this information, we aim to test a new treatment strategy for PCDH19-CE based on elimination of the causative gene. Using mouse models, we will firstly induce genetic changes that mimic the disease and characterise the onset and progression of brain abnormalities. This will help us understand the critical developmental stages at which genetic intervention may prevent or reverse PCDH19-CE symptoms. Next, we will explore the feasibility of Pcdh19 gene elimination as a potential therapy for PCDH19-CE. If successful, our genetic manipulation will rescue the PCDH19-CE symptoms. These studies will provide a platform to develop new therapeutic options for patients with PCDH19-CE. Ultimately, our research has the potential to revolutionize the treatment landscape for this disease, offering hope for improved outcomes and a better quality of life for affected individuals.

Funder name: Insieme per la Ricerca PCDH19 ETS, Italy

Investigators: Thomas P & Tasheva S

Reporting dates: Oct 2023 to Oct 2025

 

Title: Investigating proof-of-concept for genetic therapy of PCDH19-Clustering Epilepsy using preclinical mouse models

Funding Scheme: Channel 7 Children's Research Foundation, Annual Grants 2024

Investigators: Thomas P & Tasheva S

Reporting dates: 2024-2025

 

Title: Investigating the molecular pathology for PCDH19-Girls Clustering Epilepsy

Funding scheme: FND000667: NHMRC-Ideas Grants

Description: Changes in the PCDH19 gene are a relatively common cause of epilepsy. To better understand the basis of this disorder, we will use mouse models that mimic the genetic changes and symptoms of PCDH19-GCE. We will perform careful analysis of brain development in these models to determine the primary cause of this condition. We will also test whether gene therapy could be used to cure the disease. This study will define how brain changes lead to epilepsy and facilitate development of new treatments.

Funder name: National Health and Medical Research Council

Investigators: Thomas P & Tasheva S

Reporting dates: 01 Jan 2020 to 31 Dec 2023

 

Title: Exploring proof of concept for genetic therapy of PCDH19-girls clustering epilepsy using preclinical models

Funding scheme: ORG120981: PCDH19 Alliance Research Grant

Description: Changes in a brain gene called PCDH19 are a relatively common cause of epilepsy with intellectual disability. An unusual feature of this condition is that genetic changes in PCDH19 affect girls while male carriers are spared. It is thought that mosaic activity of the PCDH19 gene (coexistence of PCDH19-expressing and -null cells) in the developing brain is the cause of the disease pathology. There is no current cure for the disorder and more than half of the patients do not respond to anti-epileptic drugs. The aim of this project is to investigate the possibilities for using gene therapy to treat the disease. PCDH19-GCE is an excellent candidate for gene eliminating strategies because uniformly null individuals are not affected. To this end, we have developed a unique Pcdh19 mouse model that mimics the genetic changes that cause epilepsy. Using this pre-clinical model we will identify when pathological changes first occur in the brain of the affected females. Importantly, we will also determine whether the pathological lesion is reversible and, if so, the latest developmental time point by which genetic intervention must occur. These unique experiments will provide unique insight into PCDH19 pathology and demonstrate for the first time whether it might be possible to cure PCDH19-GCE using genetic intervention.

Funder name: PCDH19 Alliance

Investigators: Thomas P & Tasheva S

Reporting dates: 01 Sep 2019 to 01 Sep 2020

 
 

 

 

 


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