2018 PhD Scholarship Award Recipient: Samantha Bryen

In 2018, MDNSW awarded the Sue Connor Scholarship, a full-time postgraduate scholarship to qualified candidate Samantha Bryen for her research project: “Translating splicing variants into clinical genomics for patients with rare neuromuscular disorders.” Samantha commenced her scholarship in July 2018 and completed it in September 2021.

We recently had the opportunity to sit down with Sam to discuss the incredible outcomes she was able to achieve for our neuromuscular community with her work, and where her career has taken her since. Read on below to find out more.

Applications are now open for MDNSW’s Postgraduate Scholarship for Medical Research into Neuromuscular Disorders!

In partnership with Hearts and Mind Investments Group, we are offering two full-time postgraduate scholarship opportunities for suitably qualified candidates in a relevant discipline to undertake research studies in neuromuscular disorders, leading to a PhD so you can fast-track your professional development and see your research make an impact first-hand within our community! Find out more here.

So Sam, how did you get into the world of neuromuscular research?

When I finished high school, I didn’t really know what I wanted to do. I liked animals so I decided to do a Bachelor of Science – Zoology at Western Sydney University (2012-2014). This degree had the option of a major so on a whim I chose to do a biochemistry and molecular biology major without really knowing much about these topics. I found the subjects within this major far more interesting and challenging than my other subjects, particularly “Genes, Genomics and Human Health” which explored many different types of genomic changes and how these result in disease. When I finished this degree, I had a passion for genetics but predominant knowledge in animal biology.

I decided the best way to further my knowledge and experience in genetics and molecular biology would be to do an honours project. I ended up finding a project at the National Measurement Institute in the bioanalysis team. I completed my project in 2015 working with new technology to detect trace levels of cancer cells in Leukaemia patients to determine the risk of relapse. After receiving first class honours, I was able to apply for the research assistant position advertised at the Kids Neuroscience Centre, which landed me in the human genetics field I was so interested in.

You received a scholarship with us back in 2018. Tell us more about it!

The MDNSW Sue Connor scholarship was a tax-free stipend of $39,000 a year for 3 years. This money was my income for the duration of my PhD. My supervisor knew about the scholarship and recommended I apply.

How did you feel when you found out you received the scholarship?

I had a phone call from Charlotte Sangster (MDNSW CEO). I felt elated and relieved! This stipend meant I could afford to do the PhD, that I didn’t have to ask for a stipend from my supervisor and take money away from the diagnostic research we were doing. It allowed me to focus on the research that would help affected families.

Tell us more about the research you undertook at the time. What was the long-term goal of this research?

When someone presents to a doctor with an undiagnosed neuromuscular condition, available diagnostic tests only have a 50% chance of identifying the underlying genetic cause and providing answers for families.

At the Kids Neuroscience Centre at the Children’s Hospital at Westmead, Professor Sandra Cooper, my PhD supervisor, ran a research program for both children and adults presenting with inherited neuromuscular conditions who remained genetically undiagnosed following the standard diagnostic test available. The aim of our research was to find answers for these families by using the newest tools and techniques to thoroughly search for the specific genetic variants that were the cause of neuromuscular disease.

Through this research we noticed that splicing variants, a type of genetic variant, were a common cause of disease in our cohort but were often missed by standard diagnostic tests. Identifying and understanding splicing variants within our cohort became the focus of my research, and throughout my PhD I assisted in reporting the genetic diagnosis for 37 families affected by neuromuscular disease.

The long-term goal of this research aims to equip doctors with more resources and tools to accurately determine if a splice variant is the underlying cause of a genetic disorder. With this knowledge and understanding, fewer variants will be classified as a VUS and more families will benefit from obtaining a genetic diagnosis.

That’s amazing. Where has your career taken you since then and what are you up to now?

Since my research in 2018, I have stayed in diagnostic research, and I now work as a variant curator in the rare disease team at the Centre for Population Genomics (CPG).

In the rare disease team at CPG, we work with clinical research teams across Australia to apply novel genomic and analysis methods to identify the underlying genetic causes of each family’s condition. I primarily assist with genomic analysis of the neuromuscular cohorts at CPG, but I also work on other rare disease cohorts and curation projects at CPG.

How do you think the scholarship has supported the progression of your career?

I believe the scholarship has made me more competitive for funding and employment opportunities that arise.

What do you love about your field/ the work you do?

I absolutely love the work that I do. I gain immense job satisfaction when the work I do directly helps families with neuromuscular disorders. I love the detective work that is required to make sense of an individual’s genetic data. It is very rewarding to identify an interesting variant then put together all the evidence required to prove it is the cause of a rare disease, providing the much sought after answers for families who in some cases have been without a diagnosis for many years.

For example, a few years back I was able to confirm the genetic diagnosis for a couple who desperately wanted another child. They can now use pre-implantation genetic diagnosis (PGD) to ensure that their next child is healthy. Another family that I helped diagnose was able to be treated with a medication known to help with their condition and now they are regaining ambulation, improving their quality of life. Another family has been waiting for more than 10 years for their diagnosis and I was able to put the last piece of the puzzle together, providing them with a diagnosis allowing for family planning. I am honoured to have been given this scholarship and to have the opportunity to continue to help families with neuromuscular disorders.

What are you looking forward to in future?

I am looking forward to seeing the new technologies that are just starting to be used in the field deliver greater diagnostic rates for families with rare diseases. Finding a diagnosis is an important first step in being able to prescribe treatments or develop new therapies for those living with neuromuscular disorders. I would love to see our field get much closer to a 100% diagnostic rate than we are now.

Would you recommend the MDNSW scholarship and why?

Absolutely! It was a great experience to meet the MDNSW community and understand the impact that my research can have for families.

What’s your advice for researchers looking to get into the neuromuscular field?

Find a research group who are doing the kind of research you find interesting and ask them if they have any honours/PhD projects that are available. Most labs will be open to the idea of taking on an enthusiastic student, especially with your own funding from a scholarship such as the MDNSW Sue Connor Scholarship.

Anything else you’d like to add?

I really enjoyed the opportunity to present my work at the MDNSW Neuromuscular Information and Research Days and meet members of the community my diagnostic research was aimed to help. I am very grateful for MDNSW’s support throughout my PhD candidature and wish all applicants for this exciting opportunity the best of luck!

To read more about Sam’s story in her own words, click here. To learn more about her research, watch these videos:

Interested to learn more about our current scholarship offerings? Visit our page or alternatively, contact our team on (02) 9888 5711 or e-mail us at info@mdnsw.org.au for more information.