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    University of Skövde, link to startpage
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      Neurogenic disorders

      Research Group Translational Medicine TRIM Resarch Environment Digital Health Research (DHEAR)

      Neurogenic disorders

      Research Group Translational Medicine TRIM
      Resarch Environment Digital Health Research (DHEAR)

      Quick Facts

      Full project name

      Neurogenic disorders

      Duration

      January 2003 – December 2029

      Partners

      Laing Laboratory at the Harry Perkins Institute of Medical Research in Australia and Harry Perkins Institute of Medical Research.

      Financing

      Neurogenetic disorder is a group of diseases or conditions that impair the functioning of the nervous system and muscles. Neurogenetic diseases are largely caused by defective genes, a mutation or error in the DNA instructions. There are an increasing number of gene mutations that have been identified in patients with neurogenetic diseases. There are, however, a large number of neurogenetic disorders with unknown causes.

      Our research has been focused on revealing novel genetic cause and understanding the pathobiology of the diseases and to test therapeutic approaches. The Tajsharghi’s research entails three parts: Identifying new disease-causing genes and characterization of novel neurogenetic disorders, understanding the disease pathobiology and development of new therapeutic targets.

      Identifying new disease-causing genes

      Our group has been investigating the genetic causes of neurogenetic diseases for many years. We have identified multiple novel disease genes, which led to improved and more accurate clinical diagnoses, including prenatal diagnosis, prognosis and genetic counselling. These results have helped families and patients to know the cause of their disease. We continue to work on finding new genes for neurogenetic diseases. We have collaboration with many genetics centers and receive samples for analysis from all around the world. Such collaboration enables large sequencing and gene identification efforts, to reveal which other yet-unknown genes are involved in development of neurogenetics diseases.

      Understanding the disease pathobiology

      Different mutations may cause different effects, causing the cell to make either too much protein, or too little protein, or a defective protein with toxic function. Any change in the normal function of protein can be harmful to the cell and ultimately causing disease. Investigating how a mutation may be harmful to the cell and understand the pathobiology of the diseases and disease development, where we have identified the disease-causing genes, is another main goal of our research. We use different in vitro assays and biological systems, as well as expression analyses in patient tissues.

      Development of new therapeutic targets

      We are researching possible treatments for diseases where we have identified the genes, which aim at correcting the consequences of gene mutations.

      We develop disease models for muscle diseases in Drosophila and use human muscle cultured cells. Emerging insights from models of diseases provide powerful leads for the identification of potential therapies to prevent disease progress.We generated the first Drosophila models of the recurrent Laing distal myopathy (K1729del), using CRISPR/Cas9 genome engineering, which was published in PNAS (PMID: 29946036). We showed that the animals recapitulated certain muscle morphological phenotypes manifest in Laing distal myopathy patients. We identified a potential therapeutic approach involving an E3 ubiquitin ligases of the ubiquitin proteasome system that alleviates the muscle pathological phenotype in this disease model. This finding may be beneficial in patients with Laing distal myopathy.

      Project Manager

      Professor of Biomedicine