Alexandra Dumistrescu,MD,PhD and Milda Saunders,MD,MPH have been named as the recipients of the 2021 Leif B. Sorensen,MD,PhD Faculty Research Award.
Dr. Dumitrescu is a talented physician-scientist who studies patients with inherited thyroid disorders, and her work identifies the underlying mechanisms involved with such disorders. She obtained her PhD at the University of Chicago, working in the laboratory of Dr. Samuel Refetoff. There she led research efforts to identify mutations in MCT8, a thyroid hormone transporter. This was the first time a patient had been identified with a transmembrane thyroid hormone transporter defect. Dr. Dumitrescu next generated mice with Mct8 deficiency to understand the mechanistic effects of such mutations. She also studied the use of the thyroid hormone analog DITPA in Mct8KO mice, which led to improvement of metabolic parameters; this work has potential translational impact as DITPA could potentially be used in patients with MCT8 mutations. The main focus of Dr. Dumitrescu’s independent research program relates to a different syndrome she also identified, one caused by mutations in selenocysteine incorporation sequence binding protein 2 (SBP2). During her graduate studies, she was the first to identify this syndrome, which is a multi-organ disorder characterized by abnormal thyroid function tests and growth retardation. SBP2 is protein involved in the incorporation of selenocysteine into growing polypeptide chains, and mutations of SBP2 lead to derangements in proteins that contain this unusual amino acid. To assess the underlying pathophysiology of this disorder (and as part of her own independent research program), Dr. Dumitrescu developed novel mouse models of SBP2 deficiency. These mice replicate the human syndrome and are ideal models to gain mechanistic insights into SBP2 biology. This work led to a NIH R01 award and several high-profile publications. More importantly, it is changing the way we think about thyroid hormone metabolism in particular, and selenocysteine biology more generally. At the same time, Dr. Dumitrescu has developed an international reputation, and continues to identify novel SBP2 mutations in patients with this complex disorder. She has become a leader in the field of genetic thyroid disorders, particularly in relation to the syndrome of SBP2 mutations.
Dr. Saunders is a nationally recognized, clinician-investigator with a specific focus on reducing health disparities and improving outcomes of patients with chronic kidney diseases (CKD) through patient self-management, linkage to care and quality improvement across multiple levels of care. Her clinical innovations have consistently demonstrated a positive impact on the care of underserved patients with CKD. While working as a hospitalist, Dr. Saunders noticed that a large proportion of hospitalized patients with CKD are not aware of their diagnosis or care options. She explored this problem and discovered two significant barriers to appropriate high quality kidney care are 1) patients’ denial/desire not to think about the possibility of kidney failure, and 2) patients’ lack of knowledge and awareness about renal replacement options. Through her K23, Dr. Saunders developed the Patient Referral and Education Program for Renal Replacement Therapy (PREP-RRT) for hospitalized AA patients with advanced CKD who are not yet on dialysis. Next, Dr. Saunders sought to extend this hospital-based work to benefit patients who were already on dialysis. She demonstrated that this intervention successfully increased patients’ knowledge of their CKD and garnered R21 support to develop and test a novel computerized-adaptive version of PREP-RRT. Subsequently, Dr. Saunders received a R01 to develop and test a larger scale Intensive Patient Referral and Education Program for Renal Replacement Therapy (iPREP-RRT), a 12-week intervention that identifies hospitalized AA with advanced CKD and provides them with both hospital- and community based education, patient navigation and self-management support. Through her research on CKD health disparities, Dr. Saunders has developed a regional and national reputation as an expert in this area. She will be promoted to associate professor of medicine effective October 1, 2021.
The Sorensen Award, established in 2007, is given annually to recognize outstanding basic and translation research by an advanced junior or mid-career faculty member. Dr. Sorensen served in the DOM for over 40 years, most recently as vice chair from 1976-1999, and interim chair in 1997-1998.