Written by Victoria Martinez
Faces of Ataxia Research highlights scientists whose work is supported by grants from NAF. Each story shows how our donors are fueling discoveries that bring us closer to effective treatments and a cure for Ataxia.
Meet the Researcher
Project title:
- Characterization of naturally occurring mGlu1 mutations in SCA44 and SCAR13
Education:
- BSc (Honors), University of Otago
- PhD, University of Otago
Current Position:
Research Fellow and Deputy Lab Head, Endocrine and Neuropharmacology Lab, Monash University
Path to Ataxia Research
Dr. Hellyer began his scientific journey in New Zealand, completing his undergraduate degree in pharmacology, the study of how drugs interact with the body. During his honors studies, he shifted into toxinology, investigating natural toxins produced by marine algae. In 2016, he moved to Australia and returned to pharmacology, concentrating on drug discovery and the study of G protein-coupled receptors (GPCRs), proteins on cell surfaces that mediate signal relays.
Postdoctoral training in Australia is structured differently than in some other countries. Anyone working above the PhD level is considered a postdoctoral fellow. After completing his PhD, Dr. Hellyer joined Assoc. Prof. Karen Gregory’s lab, where he studied metabotropic glutamate receptors (mGlu receptors), a type of GPCR in the brain that helps neurons communicate and is involved in learning and memory. Deficits in mGlu5, a specific mGlu receptor, have been linked to several neurodegenerative diseases, including Alzheimer’s disease.
Dr. Hellyer worked on developing drugs that selectively target mGlu5 to minimize side effects on other proteins, due to the large and diverse distribution of mGlu receptors across the nervous system. During this time, Dr. Hellyer also studied ataxia patients with single nucleotide polymorphisms (SNPs), a tiny change in their DNA sequence, affecting mGlu1. He investigated how these mutations could change the receptor’s behavior and contribute to disease, which further directed his research towards ataxia.
Focus of Current Research
Dr. Hellyer’s research focuses on understanding genetic diversity and its influence on drug target efficacy. He studies GPCRs implicated in neurodegenerative disorders, where nerve cells in the brain or spinal cord gradually stop working. For example, Dr. Hellyer was currently investigating a GPCR, as a potential drug target that showed promise in preclinical studies did not perform well in clinical trials. Dr. Hellyer and The Gregory Lab found that the receptor can have over 200 different mutations, meaning the same drug could have different effects depending on the variant.
Why Ataxia Research Matters
Researching ataxia is important to Dr. Hellyer because he is fascinated by the complexity and intricacies of rare neurological diseases. He recognizes that while ataxia affects a relatively small number of people, each patient matters, and even discoveries that help a few individuals can have significant impact. Working in the field of rare diseases, Dr. Hellyer understands that therapies need to account for the specific genetic differences among patients and the mutant proteins. He is motivated to study these genetic variations to identify viable drug targets that can provide the most effective treatment for each individual
Research Impact on the Ataxia Community
Dr. Hellyer’s research aims to provide a deeper understanding of how ataxia develops at the molecular level. Because Spinocerebellar Ataxia 44 (SCA44) and Autosomal Recessive Spinocerebellar Ataxia-13 (SCAR13) are extremely rare, there is very little information linking specific mutations to disease. By uncovering these connections, Dr. Hellyer’s work provides valuable insights that could guide future therapeutic development. He is careful not to give false hope about immediate treatments. Instead, he emphasizes how understanding the relationship between mutations and cellular processes can inform drug development in the future.
Advancements through NAF Funding
From the NAF-funded project, Dr. Hellyer learned that different changes, or mutations, in mGlu1 can all lead to ataxia, but affect the protein in different ways. Some mutations make the receptor overactive, while others make it underactive, but both can still cause the same disease phenotype. Dr. Hellyer investigated how the genetic differences across mutant mGlu1 proteins can influence the age when symptoms first appear, the presence of additional health issues, and how the disease progresses over time. The research project funded by NAF showed him that even when the end result looks the same, the molecular pathways leading there can be very different, highlighting the complexity of the disease and why careful study of each mutation is important.
Bridging Gaps in Knowledge
Dr. Hellyer’s research bridges a key gap in ataxia knowledge. For many rare forms of ataxia, there is minimal information connecting a patient’s genetic mutation to their symptoms. A patient may be diagnosed with ataxia caused by a known mutation, but researchers do not yet understand how that change in DNA leads to problems in the brain and movement. Dr. Hellyer’s work aims to map these connections, showing how specific genetic changes affect cellular processes and brain function. By understanding these links, researchers and clinicians can better predict disease progression and think about ways to develop targeted treatments.
Career Growth Through NAF Support
Receiving a grant from the National Ataxia Foundation (NAF) has had a major impact on Dr. Hellyer’s career. It validated his ideas as a researcher and gave him confidence that he was on the right track. The grant also added credibility, which is especially important because new investigators often face challenges in securing funding without a track record of previous awards. NAF support demonstrated that his work was valuable and fundable, while also helping him establish his independent research career.
Long-Term Goals
Dr. Hellyer’s goal as an ataxia researcher is to give a voice to patients with extremely rare forms of ataxia, making sure they have a seat at the scientific table. He wants to show them that work is underway to better understand and ultimately treat these rare forms of ataxia. Because they are so rare, developing therapies is challenging. There is limited knowledge, very small patient populations, and few resources dedicated to studying these forms of ataxia. By studying the mechanisms of these diseases, Dr. Hellyer hopes to provide insights that contribute to disease understanding and improve patient outcomes
Hobbies Outside the Lab
Music has always been an important part of Dr. Hellyer’s life. He began by playing the trumpet in his early school years before transitioning to the guitar. Outside the lab, he enjoys playing the bass guitar, a passion he has carried since his undergraduate and doctoral studies. During that time, he played in several death metal bands while
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