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 Association Lowe 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

Examining a possible novel drug target for Parkinson’s disease

THE GEOFFREY AND PAULINE MARTIN TRUST (UK)

January 2022 - May 2024

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

MUSCULAR DYSTROPHY UK - MDUK (UK)

May 2019 - August 2022

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

ASSOCIATION FRANÇAISE CONTRE LES MYOPATHIES (FRANCE)

September 2019 - August 2023

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

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 - March 2023