Photo of Dr Laura Swan

Dr Laura Swan PhD

Molecular & Physiology Cell Signalling

    Research

    Charcot Marie Tooth Type 4 (CMT4) (MTMR2, MTMR13, MTMR5 Fig4 and Frabin)

    A congenital disorder of Schwann cell myelination, CMT4 is caused by a series of mutations in PIP-metabolising enzymes and PIP-binding proteins including the 3 phosphatases MTMR2, MTMR13, MTMR5, the 5 phosphatase Fig4 and the small GTPase activating protein, Frabin. We are funded by the MRC to identify common networks for these genes to identify if a common therapeutic approach could apply to these mutations.
    For more information about CMT4 see Charcot Marie Tooth UK and Hereditary Neuropathy Foundation

    Oculocerebral renal syndrome of Lowe (OCRL)

    A rare X-linked disorder predominantly affecting eye brain and kidneys. The OCRL enzyme affects many tissues by changing the trafficking of subcellular organelles, but which of these organelles are therapeutically relevant has been difficult to determine: we use bioinformatics, optogenetics, patient material and model organisms to study the role of OCRL in endocytic trafficking/cell signaling . Lowe Syndrome AssociationLowe Syndrome Trust

    Marinesco Sjoegren Syndrome (INPP5K)

    We recently found that mutations in the ER-localized enzyme INPP5K are a novel cause of congenital muscular dystrophy: see our papers here and here. We are using model systems, bioinformatics enzymology and optical probes to characterize the function of this protein

    Research Grants

    Protein processing and secretion in a new cause of CMD, INPP5K mutation

    MUSCULAR DYSTROPHY CAMPAIGN (UK)

    May 2019 - May 2022

    INPP5K-mediated congenital muscular dystrophy models of motor neuron branching and function

    AFM (FRANCE)

    September 2019 - September 2022

    Dionex suppressed conductivity cationic detector ICS-5000 RFIC system equipment grant

    NORTH WEST CANCER RESEARCH INCORPORATING CLATTERBRIDGE CANCER RESEARCH (UK)

    March 2019 - March 2020

    Investigating enzymatic function of the phosphatase INPP5K and a novel carcinogenic mechanism in the phosphatase PTEN, PTEN-F90S.

    ROYAL SOCIETY (CHARITABLE)

    November 2017 - March 2019

    Examining the coupling of small GTPase activation and metabolism of the phosphoinositide lipid PI(3,5)P2 in Charcot Marie Tooth Type 4 Neuropathies.

    MEDICAL RESEARCH COUNCIL (MRC)

    September 2016 - August 2019

    2014 allocation - Wellcome ISSF non clinical fellowships

    WELLCOME TRUST (UK)

    May 2015 - October 2018

    YEAR 1 (part2) Wellcome Trust ISSF Non-Clinical Fellowships

    WELLCOME TRUST (UK)

    October 2012 - December 2021