Scott Sullivan MND Research Fellow – Update August 2018 – MND and Me Foundation

Scott Sullivan MND Research Fellow – Update August 2018


Recipient:  Dr Shyuan Ngo

Aim of the Fellowship:
Develop a translational research program that bridges the clinical and basic sciences, to decipher the mechanisms by which altered metabolic balance contributes to disease pathology.


Our team’s clinical research focuses on studying how the body responds to MND from an energetic perspective. Working with patients, we study the relationship between energy balance, diet, gut function, physical activity and disease progression. By studying multiple aspects of human biology, we aim to understand MND on a patient-by-patient basis. Our clinical research is highly collaborative, and we work with local neurologists at the Royal Brisbane & Women’s Hospital and Wesley Hospital, as well as neurologists who oversee large MND clinics in the Netherlands and United Kingdom.

Our team’s lab-based research aims to identify the mechanisms that cause MND so that we can identify targets for drug development. This research is also highly collaborative and we work with researchers who have expertise in drug development, physiology, genetics, statistics, and stem cells.

We have recently published the first results from our patient studies, showing that hypermetabolism (when energy use is higher than what is expected) occurs in MND patients who have faster functional decline and that hypermetabolic MND patients are at risk of earlier death. To understand why this might be the case, we have been collecting diet diary information and studying the gut microbiome from each patient to understand if dietary intake and gut health might be linked to increased energy use in MND.

We are also tracking physical activity in our patients to see if the energy that they are expending is being offset by the amount and type of food that they are eating. A benefit to tracking physical activity in our patients is that we are also able to ask important research questions about fatigue, and we are aiming to develop new ways to help MND patients manage their fatigue.

To develop a better understanding of what might be causing hypermetabolism in MND, we have been collecting blood, and muscle and skin biopsies from our MND patients and control volunteers. In the lab, we are studying the blood to see if there are any molecules that might explain increased energy use in MND. With our muscle biopsies, we are using the resident stem cells in the muscle to generate muscle fibres in a dish. With the skin biopsies, we are turning skin cells into stem cells that we then turn into neurons, and we have also adopted new techniques to turn skin cells directly into neurons. We are using these cells to study if the way in which the cells use and generate energy is related to the changes in the way the body uses energy, and to study individual cell signatures to identify why these cells are susceptible to death in MND.

In the lab, we also using mouse models and our human derived cells to test a drug that we hope will be able to help combat fatigue, and a drug that modulates the metabolism of a unique group of fats to improve function and survival. We hope that this preclinical testing will generate data that will support the transition of these compounds into clinical trials for MND.