December 2024

NEUROSCIENCES

ALUMNI SPOTLIGHT: IGNACIO J. KELLER SARMIENTO, MD, ’24 GMEF

What inspired you to specialize in movement disorders? 

My passion for neurology started during my high school years when studying Sigmund Freud in my philosophy class. I was fascinated by his attempt to find the point of contact between the brain and the mind. I completed my neurology residency in Milan, Italy, under the mentorship of Prof. Vincenzo Silani, where I explored various neurological subspecialties.  I found myself drawn to movement disorders because of how sophisticated and powerful the neurological examination is in this subspecialty. The identification of subtle signs on the exam is often what eventually leads to the diagnosis, much like traditional neurologists such as Charcot used to do, historically. I enjoy the challenge of discussing the differential diagnosis, i.e. distinguishing between different conditions based on clinical observation.

Can you elaborate on your clinical and research interests? 

My clinical and research interests primarily revolve around movement disorders, with a special focus on genetics. My passion for genetics began studying biology in high school when I came across a rare disease called Kartagener syndrome, which demonstrated how a single gene mutation can cause a wide range of apparently unrelated manifestations.

My research focuses on uncovering the genetic architecture of Parkinson’s disease and other movement disorders. Essentially, I employ computer analysis tools to identify genetic mutations in patients' DNA. The ultimate goal of my work is to lay the foundations to develop treatments that will specifically target and correct these genetic abnormalities. Recently, I had the opportunity to contribute to the knowledge of a rare syndrome, publishing a paper on a disease that had only been described in eight patients worldwide.

After completing your fellowship at Northwestern University, what factors contributed to your decision to join the faculty at Northwestern Medicine? How have your educational experiences shaped your career path?

My team at Northwestern Medicine, led by Tanya Simuni, MD, and Dimitri Krainc, MD, PhD, was always highly supportive and cooperative. I found this environment to be very productive, providing a solid intellectual foundation for the development of any idea or project. We have direct access to state-of-the-art technological resources.

Additionally, the opportunity to pursue my interest in genetics of movement disorders alongside Niccolo E. Mencacci, MD, PhD, played a major role in my decision to join the faculty at Northwestern Medicine.

Over time, I also built strong relationships with my patients, many of whom expressed a desire for me to continue treating and assisting them as faculty. Currently, I am currently the treating neurologist of several patients that I encountered as a fellow. The positive experiences I had with my patients played a significant role in my decision to stay.

As a new faculty member, what are your goals for the Movement Disorders Program at Northwestern Medicine? How do you envision contributing to advancements in the field?

In my clinical practice, I aspire to become a leading specialist in movement disorders. I want to increase my knowledge and expertise in treating these serious conditions. My goal is to provide the highest level of care and make a significant impact in the life of patients with movement disorders.
 
On the research side, my primary focus is on identifying new genes that contribute to movement disorders such Parkinson’s Disease, dystonia, and ataxia. By gaining a deeper understanding of the molecular mechanisms of these diseases, we can develop targeted treatments that address their root causes.

Could you share a memorable experience from your training at Northwestern University that continues to impact your work today?

As a foreign physician from Italy, one of my first hands-on experiences as a clinician in the United States, was Dr. Simuni’s clinic. Working alongside her taught me how to increase my efficiency without compromising quality of care. Dr. Simuni’s ability to handle many patients while maintaining a strong rapport and delivering accurate diagnoses and tailored treatment plans was truly impressive. On the research side, working together with Dr. Mencacci was an extremely formative experience due to his unparalleled talent as a researcher. He is a great mentor and friend.

Were there any mentors who shaped your career path?

As I mentioned, mentors like Dr. Mencacci, Dr. Simuni and Dr. Krainc have been instrumental. Their guidance in orchestrating the development of my skills have been invaluable. Moreover, I rotated in clinic with many attendings, who have all contributed to my growth as a clinician, including Paulina Gonzalez Latapi, MD; Danielle N. Larson, MD; Danny Bega, MD; Leonard Verhagen Metman, MD, PhD; Allan Wu, MD; Neil Shetty, MD; Rizwan Akhtar, MD, PhD.

What research projects are you currently working on?
​
I am a member of the data analysis team for the Monogenic Network of the Global Parkinson’s Genetics Program (GP2). This consortium aims to perform large scale recruitment of Parkinson’s disease patients worldwide for whole-genome sequencing. The goal is to identify new genes associated with Parkinson’s. This is a great initiative and program sponsored by Aligning Science Across Parkinson’s and managed in collaboration with the Michael J. Fox Foundation.

Additionally, at Northwestern Medicine, we maintain a large biorepository of DNA samples from patients with various movement disorders. This invaluable resource allows us to conduct computer-based genetic analyses aimed at identifying mutations associated with these conditions. Our ultimate goal is to leverage this genetic information to develop personalized medicine approaches, tailoring treatments to the unique genetic profiles of individual patients. By doing so, we hope to improve the precision and effectiveness of therapies, leading to better outcomes and enhanced quality of life for those affected by movement disorders.


Ignacio J. Keller Sarmiento, MD, ’24 GMEF, instructor of Neurology (Movement Disorders) at Northwestern Medicine

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