Muhammad Usman

Muhammad Usman

Oldenburg (Oldb.), Niedersachsen, Deutschland
781 Follower:innen 500+ Kontakte

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I am a passionate researcher driven by a deep interest in the genetic and molecular…

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  • Carl von Ossietzky Universität Oldenburg Grafik

    Carl von Ossietzky University of Oldenburg

    I devoted my research to improving gene therapy applications for rare genetic diseases, specifically Retinitis pigmentosa (RP). My studies produced a significant breakthrough by exploring the poorly understood pathogenic mechanism of RP in affected females, offering hope for these individuals to be considered for future gene therapy.

    Further, I made a noteworthy investigation into Primary ciliary dyskinesia (PCD) which is rarely associated with the mutation in the RPGR gene. Through…

    I devoted my research to improving gene therapy applications for rare genetic diseases, specifically Retinitis pigmentosa (RP). My studies produced a significant breakthrough by exploring the poorly understood pathogenic mechanism of RP in affected females, offering hope for these individuals to be considered for future gene therapy.

    Further, I made a noteworthy investigation into Primary ciliary dyskinesia (PCD) which is rarely associated with the mutation in the RPGR gene. Through in-depth genetic analysis, I revealed frequent crossing-over events and significant variants that might act as modifiers along with RPGR mutation to explain the PCD phenotype.

    Finally, I disclosed the essential role of RPGR isoforms in maintaining ciliary structure and functions, leading to a unique gene therapy approach that could serve as an alternative to RPGRORF15-based gene therapy for treating RPGR-associated RP.

  • Durin my Master's studies, I have been a part of a collaborative effort between the University of Maryland Baltimore, USA and Government College University Faisalabad (GCUF), Pakistan, I contributed to a project aimed at elucidating the molecular basis of inherited diseases in Pakistan. Specifically, I played a key role in identifying, enrolling, and screening for common glaucoma markers in ten consanguineous families affected with glaucoma in Pakistan, with the goal of better understanding the…

    Durin my Master's studies, I have been a part of a collaborative effort between the University of Maryland Baltimore, USA and Government College University Faisalabad (GCUF), Pakistan, I contributed to a project aimed at elucidating the molecular basis of inherited diseases in Pakistan. Specifically, I played a key role in identifying, enrolling, and screening for common glaucoma markers in ten consanguineous families affected with glaucoma in Pakistan, with the goal of better understanding the genetic and phenotype heterogeneity within these families. Notably, my contributions to this project have been published, highlighting the significance of this work in advancing our understanding and treatment of inherited diseases.

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