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Crystal Kamilaris in a white lab coat

Crystal Kamilaris, MD

Crystal Kamilaris, MD, is a clinical fellow in adult endocrinology, diabetes, and metabolism in NIH’s Inter-Institute Endocrinology Training Program (IETP). Her research interests include endocrine hypertension, adrenocortical tumors, pituitary disease, and multiple endocrine neoplasia. As a senior clinical fellow, she supervises and teaches other fellows, medical students, and staff. She also has served as fellows’ representative and as the representative for adult endocrinology on NIH’s Clinical Fellows Committee.

We asked Dr. Kamilaris a few questions about herself to get to know the person behind the degree. Introducing Dr. Kamilaris:

What influenced you to go into medicine/research?

Having grown up in Long Island, New York, and as the daughter of two physicians, I was able to observe first-hand the gratification of contributing to science and one’s community through medicine and research. This propelled me to pursue a career in this field.

After receiving my high school degree, I completed my medical school training at the University of Patras School of Health Sciences in Patras, Greece and then my internal medicine residency training at the University of Connecticut in Farmington, Connecticut. Throughout my medical training, I developed a passion for scientific inquiry that was further strengthened after completing a rotation as an internal medicine resident at the NIH IETP. While in this program, I was able to observe how the study of rare diseases has helped elucidate the pathophysiology of many endocrine conditions, allowing for advances in diagnostics and therapeutics that can have a broad effect. This fueled my interest for clinical and translational research.

Why did you choose this line of research?

Since I was a medical student, I have been fascinated with the intricacy of human physiology. Small changes at the molecular level can lead to a significant pathology in the human body. Endocrinology, in my opinion, best embodies this wide spectrum of pathophysiology. Endocrinology involves multiple organ systems and processes. Understanding this pathophysiology from the molecular to the clinical level allows for specific disease detection through history, physical examination, and precise diagnostics, as well as the development of therapeutics that target specific disease processes—with ample opportunities for research to further the field.

I became enamored with the field of adrenocortical disease, endocrine hypertension, and multiple endocrine neoplasia syndromes after observing the significant effects that excess cortisol and/or aldosterone can have on metabolic, cardiovascular, and bone health—amongst other systems. I’ve observed how specific genetic defects and alterations in certain key intracellular pathways can lead to disease and/or tumorigenesis in the adrenal gland and in other endocrine organs. I became interested in diseases of the pituitary gland and neuroendocrine disorders, as the pituitary is intricately involved in multiple endocrine/hormonal axes.

What brought you to NIH?

NIH fosters a culture of excellence and offers unparalleled opportunities to build a strong foundation for a career as a physician-scientist. I chose to pursue my fellowship in endocrinology, diabetes, and metabolism at NIH as this fellowship program provides unique opportunities to develop clinical and research expertise as well as teaching experience. The IETP, through collaborations with other local institutions, allows for fellows to have a broad clinical experience while developing clinical and research expertise while seeing patients at the NIH. Importantly, NIH is a referral center for many rare endocrine disorders, supporting clinical trials involving most of the major areas of endocrinology. NIH also promotes the development of basic, translational, and clinical research skills, with advantages provided by the Clinical Research Center, NIH facilities, and mentorship from leaders in the field.

What is your most memorable experience so far while at NICHD?

I have been lucky to have many memorable experiences while at NICHD. Most recently, we had a patient that was diagnosed with primary aldosteronism at a young age due to bilateral adrenal hyperplasia.* He required surgical treatment with bilateral adrenalectomy in the third decade of his life due to progressive disease. His phenotype was more severe than that of a patient with sporadic primary aldosteronism due to somatic mutations, but less severe than that of patients with familial hyperaldosteronism due to germline mutations.

Focused exome sequencing in multiple nodules from both of his adrenal glands revealed a hot-spot pathogenic mutation as the cause of his primary aldosteronism, but Sanger sequencing did not detect DNA defects in peripheral blood and other tissues. Whole exome “deep” sequencing revealed that 0.23% of the copies of his germline DNA carried the hotspot mutation present in the adrenocortical nodules, suggesting low level germline mosaicism as the cause of his primary aldosteronism—which had not been previously reported.

This is a great example of how a specific molecular process resulted in a unique clinical phenotype, with implications for the patient’s prognosis and genetic counseling.

*Editor’s Note: Bilateral adrenal hyperplasia is the enlargement of hormone-producing glands (called adrenal glands) on both kidneys. Primary aldosteronism is a disorder that occurs when the adrenal glands produce too much of the hormone aldosterone, which leads to high blood pressure.