Illuminate Tomorrow – This World Mitochondrial Disease week we are illuminating tomorrow’s leaders in Mito research
It’s World Mitochondrial Disease Week (16-22 September), with “Light up for MITO” this Saturday 21 September that will see landmarks across the world illuminated in green to raise awareness for Mitochondrial Disease. Luna Park, Bolte Bridge, and the Citylink Sound Tube in Melbourne will be among 98 Australian landmarks confirmed to take part.
Mitochondrial diseases are a group of rare genetic disorders that affect mitochondria – the energy generating factories found in every cell of the body. Mitochondrial diseases are the largest and most common group of inherited metabolic disorders. They comprise over 350 monogenic diseases and affect at least one child born in Australia each week.
We spoke with two graduate researchers from Dept Biochemistry & Pharmacology working in Mito Research, to learn about their work and aspirations. They are recipients of the Mito Foundation PhD Top-up scholarship, and involved in two of the leading laboratories into Mitochondrial research: The Stroud Lab and The Stojanovski Lab.
These hard working graduate researchers are involved in the development of mass-spectrometry approaches for the diagnosis of patients, and understanding disease mechanism and we look forward to watching their career progression.
Illuminating tomorrow’s leaders in Mito Research
Liana Semcesen, Graduate Researcher, The Stroud Laboratory
Describe your work or PhD focus
Mitochondrial diseases are a group of rare diseases associated with more than 350 different genes. Current genomic sequencing approaches often yields a genetic diagnosis in only around 50% of cases suspected of mitochondrial disease. My PhD project focuses on investigating the utility of proteomics in providing functional evidence for genetic variants identified by genome sequencing to establish disease causation. My project is part of the Mitochondrial Multi-Disciplinary Team (MitoMDT) Project, which is a national project aiming to combine genomic and other omics technologies, including proteomics, to improve the diagnostic rate of mitochondrial diseases to over 70%.
What do you hope your work will achieve
We hope to demonstrate that proteomics will increase the diagnostic yield of mitochondrial disease and potentially become a new diagnostic test. This work contributes to our larger research aim which is to clinically translate proteomics by obtaining accreditation by the National Association of Testing Authorities (NATA) and Royal College of Pathologists of Australasia (RCPA) for the use of proteomics as a clinical test for mitochondrial and other rare genetic diseases.
How will this impact people with mitochondrial disease
Obtaining an accurate and fast genetic diagnosis is crucial for patients with a genetic disease, as patients and families often endure long diagnostic odysseys. Additionally, having a confirmed diagnosis can enable access to prenatal genetic testing for certain families, offering valuable options for early intervention and planning.
What is it like working with A/Prof David Stroud in The Stroud Laboratory
Being a part of the Stroud Lab and having David as a primary supervisor has been a highly rewarding experience. Our team works on different applications of proteomics in the clinical space, which allows us to closely collaborate within our laboratory. There is always support or advise from lab members available, which makes it a great laboratory to work in. Our group also likes to do fun activities outside of the lab – like bowling or trying out high ropes courses!
Where do you see yourself in 5 years
After the completion of my PhD and within the next 5 years I hope to still be working in the research field aimed at understanding and improving diagnostic outcomes for rare genetic disease patients. I hope to continue to learn new skills, both in and outside of the lab, potentially learning other omics and functional techniques to improve genetic diagnosis.
What is your go-to coffee order/location
Jaspresso – They always make great lattes and jaffles!
Jordan Crameri, Graduate Researcher, The Stojanovski Lab
Describe your work or PhD focus
During my PhD, I have investigated the connection between dysfunctional mitochondrial protein import and mitochondrial disease. I have uncovered pathogenic mechanisms of a protein import associated with mitochondrial disease and investigated the inherent quality control mechanisms that alleviate protein import stress and prevent mitochondrial dysfunction and the manifestation of disease.
What do you hope your work will achieve / How will this impact people with mitochondrial disease
Over 300 different genes have been associated with mitochondrial disease. When mutated, each of these genes produce unique forms of mitochondrial disease that vary in their clinical presentation and therapeutic needs. I hope that by aiding in the identification and characterisation of mitochondrial disease-associated genes, we can provide personalised medicine approaches for patients that best suit their specific needs. In addition, by identifying and classifying novel disease-associated gene variants, the reproductive rights of affected patients and their families can be ensured within our healthcare system.
What is it like working with A/Prof Diana Stojanovski in The Stojanovski Laboratory
The Stojanovski lab is a fantastic environment as a graduate student where we are given a strong, supportive space to develop as scientists. Diana is a fantastic mentor and supervisor that always encourages our work whilst ensuring we uphold the quality and integrity required of us. In the lab we are always having fun and helping each other out with a curious passion that ensures we all get the most out of our time in the lab.
Where do you see yourself in 5 years
As I approach the end of my PhD in January 2025, I am looking to secure an international postdoc position to continue my research studies. So hopefully in 5 years’ time I’ll be enjoying life abroad, potentially preparing myself to come back home to Australia.
What is your go-to coffee order/location
Batch brew from Jaspresso Café.
Mitochondrial Disease Week is an awareness initiative. It is an important way to highlight this group of disorders that many members of the general community might not be aware exist. It provides the mito community with an avenue to share their stories and unite, and it provides an opportunity to highlight the incredible research and researchers that are dedicating their lives to better diagnoses, treatments and ultimately a cure.
