In our series of 'Meet the AMS scientist', we shine the light on outstanding AMS researchers and dive into their background, what drives them, what their work brings them and what they bring to their work. These interviews are also shared on the AMS LinkedIn account, feel free to share within your network!
For Mackenna, some of the most profound medical questions start at the smallest possible scale: DNA. Tiny changes in genes can have far-reaching consequences in the human body. Understanding how such small alterations can lead to complex diseases is what drives her research.
Mackenna researches Osteogenesis Imperfecta, a rare genetic disorder. The condition is caused by mutations in genes involved in the production of collagen type I, an essential structural protein that plays a key role in the strength of bones and other connective tissues. While bone fragility and deformities are the most visible characteristic of the disease, collagen type I is present throughout the body. It can also be found in tissues such as the eyes, blood vessels, lungs, skin, and tendons.
For this reason, Mackenna’s research looks beyond the skeleton to better understand how the disease affects organs like the eyes and the brain as well. Patients with osteogenesis imperfecta often show distinctive features such as a blue tint in the white of the eye, but the broader impact on eye health is still not fully understood. Similarly, Mackenna investigates whether structural changes in the skull and spine, brain, or blood vessels might influence neurological health.
Another important question in her research is why the disease can vary so much between patients. Even individuals who carry the same genetic mutation, even within the same family, can experience very different symptoms. Some may have a relatively mild form of the disease, while others develop severe complications.
Understanding this variability requires looking deeper into the genome. Mackenna is currently involved in projects that apply advanced sequencing technologies to analyze regions of DNA that are normally difficult to study. By comparing patients with similar mutations but different disease severity, researchers hope to identify additional genetic or epigenetic factors that influence how the disease develops.
If successful, this research could open the door to more personalized care. Identifying biological pathways involved in disease severity may eventually lead to new treatment strategies or help physicians better predict how severely a child might be affected. For families living with a rare genetic condition, such knowledge can provide valuable guidance and clarity.
Mackenna’s interest in genetics developed gradually during her studies. She pursued both Biomedical Sciences and Medicine, driven by a curiosity about how tiny molecular changes can lead to complex disease processes. Laboratory research allowed her to explore the biological mechanisms behind disease, while medical training brought her closer to the patients themselves.
This combination of perspectives continues to shape her work. She works closely with clinicians, preclinical scientists, and other departments, ensuring that discoveries in genetics remain connected to the experiences of patients.
Looking ahead, Mackenna hopes to continue working at the intersection of research and clinical genetics. Her long-term goal is not only to better understand rare genetic disorders like osteogenesis imperfecta, but also to help patients navigate the uncertainty that often accompanies genetic diagnose.
Because while a mutation in DNA may be small, its impact on a person's life can be enormours. And with carefyl, detailed research, even the smallest discoveries can grant meaningful improvements in care.
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