
Rachel J. Boyd
Parkinson’s disease is characterized by the progressive loss of dopamine-producing neurons, partly due to the toxic buildup and aggregation of the α-synuclein (SNCA) protein. Overproduction of SNCA is one of the greatest risk factors for Parkinson’s; therefore, reducing SNCA levels represents a promising therapeutic strategy.
In the McCallion lab, we discovered a genetic “switch” (or enhancer) that helps control SNCA levels in this vulnerable population of dopamine-producing neurons. When this switch is active, SNCA is produced at high levels, but when the enhancer element is removed, SNCA production is diminished. To test whether turning off this switch could be protective, we created mice in which this enhancer element was removed. These mice exhibited a reduction in SNCA levels and, as a result, were resistant to Parkinson’s-like motor symptoms and had healthier neurons with significantly less toxic protein buildup, inflammation and neurodegeneration.
Current therapeutic interventions for Parkinson’s mostly help manage disease symptoms, but don’t stop or slow neuron death. My findings suggest that targeting this genetic switch could slow or even stop disease progression, offering a potential gene therapy approach for Parkinson’s and other disorders linked to SNCA, such as dementia with Lewy bodies.
Questions & Answers
Why did you choose Johns Hopkins for your work?
I have been passionate about the genetics of neurological diseases since my first undergraduate courses in genetics, psychology and neuroscience. As I began to explore research opportunities, I became particularly interested in how genetic variation influences neurodegenerative and psychiatric disorders. I wanted to study the genetics of human neurological disease in an environment that combined cutting-edge research, strong clinical integration and a legacy of discovery — making Johns Hopkins the clear choice.
When I applied to Johns Hopkins, Dr. David Valle was the director of both the Department of Genetic Medicine and the human genetics graduate program. As a respected leader in the field, his vision for genetic medicine as a bridge between research and clinical application deeply resonated with
- I knew that training at Johns Hopkins would provide not only world-class education and resources, but also a uniquely interdisciplinary approach to genetic medicine. This environment allowed me to develop expertise in both fundamental genetic research and its translational potential, equipping me with the tools to make meaningful contributions to the field.
What does receiving this award mean to you personally and professionally? Do you have any connection with the particular award you received?
Receiving the Mette Strand Research Award is an incredible honor, both personally and professionally. On a personal level, this recognition reinforces the dedication and passion I’ve devoted to my research. It also serves as
a timely reminder that my passion for scientific discovery and improving human lives is something worth fighting for. Throughout my training, I have been driven by a deep curiosity about how genetic regulation contributes to neurological disorders, and this award affirms the importance of this work.
Professionally, this award is a meaningful validation of my commitment to translational research. My work aims to bridge the gap between fundamental genetics and therapeutic innovation, and receiving this recognition strengthens
my confidence in continuing down that path. It also motivates me to push further — to advocate for the development of novel, gene-targeted strategies that could one day alter the course of neurodegenerative diseases.
I am especially honored to receive an award named after Dr. Mette Strand, whose legacy embodies scientific excellence and mentorship. Her dedication to training the next generation of researchers is particularly inspiring, as mentorship has been a crucial part of my own development. Just as I have benefited from the guidance of exceptional scientists throughout my career,
I hope to continue that tradition by providing support and mentorship to others. In that way, this award is not just a recognition of past work but also a call to contribute meaningfully to the future of science.
What contributed to your project’s success?
The technical support that I received was imperative to the success of this project. Dr. Stacie Loftus and Dr. Sarah McClymont were instrumental in the generation of the enhancer deletion mouse model. Dr. Yuma Kitase provided me with expert training in performing perfusions, dissections, cryosectioning and brain tissue staining techniques that were critical to establishing the mouse model used in my study. Dr. A Ra Kho provided experimental expertise in western blotting and brain tissue staining, and Dr. Chantelle Terrillion provided expert training in how to conduct mouse behavioral phenotyping, all of which were critical to evaluating the therapeutic impact of this enhancer deletion.
I also received invaluable sponsorship from the Canadian Institutes for Health Research, which provided salary support and enabled me to present my work at many meetings and conferences throughout my doctoral studies. This project also would not have been possible without the mentorship, guidance and resources of the members of my thesis committee: Dr. Jeremy Nathans, Dr. Dimitri Avramopoulos, Dr. Lauren Jantzie, Dr. Loyal Goff and
Dr. Hanseok Ko.
Finally, I want to thank my supervisor, Dr. Andy McCallion, for nominating me for this award. His guidance throughout my doctoral studies, as well as his dedication to my growth as a trainee and a research scientist have been instrumental in shaping both my research and professional accomplishments. He provided me with an environment where I was encouraged to ask questions and make mistakes, and he gave me the independence and trust to
make my own decisions, pursue additional projects and maintain a fulfilling life outside of work.
What thoughts do you have about Young Investigators’ Day itself, as a celebration of the roles students and fellows play in research at Johns Hopkins?
Young Investigators’ Day represents a celebration of the contributions that students and fellows make to the research community at Johns Hopkins. It highlights the essential role that trainees play in advancing scientific discovery and reinforces the value of collaboration and innovation. Research is a collective effort, and this event not only recognizes individual achievements, but also fosters a sense of community among early-career scientists. It’s inspiring to see the breadth of groundbreaking work being done across Johns Hopkins, and I’m grateful to be part of an institution that prioritizes, promotes and celebrates early-career scientists.
What has been your best/most memorable experience while at Johns Hopkins?
Undoubtedly, the highlight of my time at Johns Hopkins was hosting Dr. Francis Collins at the 19th annual Barton Childs Lecture this past year. Dr. Collins is an icon in the field of genetics, and someone I profoundly respect.
Having the opportunity to introduce him, engage in discussions about his career and scientific contributions, and learn from his insights was an incredible honor. His ability to connect groundbreaking discoveries with
public engagement and policy has inspired my own career trajectory, and this experience reinforced my passion for scientific communication and leadership. The event was a full-circle moment — connecting my research journey with the broader legacy of genetics and its impact on human health. Hosting
Dr. Collins felt like a storybook ending to my time in the Human Genetics graduate program and will likely remain one of the highlights of my career.
What are your plans for the next year or so? Graduating, looking for faculty positions, etc.?
Now that I have completed my Ph.D., I am exploring opportunities that align with my expertise in genetics and neurodegeneration, whether through faculty or research associate positions, or by applying my passion for science strategy and policy within government or nonprofit organizations. My goal is
to contribute meaningfully to the global research landscape and promote the
health and well-being of people around the world, whether through advancing scientific discovery or shaping policies that support innovation and health research.
Tell me something interesting about yourself that makes you unique. Do you have any special hobbies, interests or life experiences?
I think one unique thing about me is that I’m ambidextrous; another is that I used to be a competitive figure skater. I was born and raised in Vancouver, British Columbia, which fostered my love for adventures and the outdoors.
Whether it’s hiking, camping or traveling, I’m always looking for new experiences and places to explore. One of my favorite adventures was a 10- day hiking trip through Mont Blanc in the Swiss/French/Italian Alps. My love for travel also inspires my cooking — I enjoy recreating dishes from around the world and discovering new recipes along the way. During a typical week, you’ll find me playing beach volleyball at Baltimore Beach, doing Pilates or passionately cheering on the Vancouver Canucks.