Developing precision therapies for motor neurone disease is a focus for recent PhD graduate, Dr Rita Mejzini.

Dr Mejzini is a postdoctoral researcher in the MND Genetics and Therapeutics Research at the Centre for Molecular Medicine and Innovative Therapeutics (CMMIT) at Murdoch University and Perron Institute.

Her thesis title is: Development of Antisense Oligonucleotides with Therapeutic Potential for Treating Amyotrophic Lateral Sclerosis.

Amyotrophic lateral sclerosis (ALS), the most common form of motor neurone disease, is characterised by degenerative changes to both upper and lower motor neurons. Current treatment options are based on symptom management and respiratory support to prolong survival.

Over 60 clinical trials for drugs to treat ALS have ended in disappointment in the past few decades.

“Antisense oligonucleotides (AOs) are short nucleic acids (info-carrying molecules) that can be designed to specifically target the pathological hallmarks of disease at the RNA level,” Dr Mejzini said.

“Developments in AO-based medicine in recent years has led to several new AO therapies receiving approvals to treat various conditions.

“My PhD research involved the development and assessment of AOs with therapeutic potential for treating ALS with a focus on targeting key ALS genes TARDBP, STMN2 and FUS.

“I’d like to thank my supervisors, Professor Anthony Akkari, Professor Steve Wilton and Dr Loren Flynn for their support and guidance during my PhD candidature, and to everybody at the Perron Institute and CMMIT for making it such an amazing and supportive place to learn and work.”

During her PhD, Dr Mejzini’s first ‘first author’ review paper: ‘ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now? was published in Frontiers in Neuroscience. Impressively, it has had almost 400 citations and was selected for the Frontiers in Neuroscience: Neurodegeneration Editors’ Pick 2021 collection. It is also one of the Perron Institute’s most highly cited papers for the time period.

Dr Mejzini is also the Principal Investigator for a project which recently received a $100,000 grant from MND Research Australia. She is working with Professor Akkari, who heads the MND Genetics and Therapeutics Research group at the Perron Institute and CMMIT. Their aim is to develop molecular genetic therapeutics to tackle this devastating and currently incurable disorder.

Congratulations on your achievements, Dr Mejzini.