2012 Awardee

 

Ayelet Erez, M.D., Ph.D., is an Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine, and a medical geneticist at Texas children’s hospital, Houston, Texas.
 
Dr. Erez did her MD and pediatric residency in Israel followed by a PhD in cancer genetics at Tel Aviv University under the mentorship of Dr. Shai Izraeli.  In 2005, she joined the laboratory of Dr. Brendan Lee, a Howard Hughes Investigator at Baylor College of Medicine and subsequently started the American Board of Medical Genetics (ABMG) Clinical Genetics residency program from which she graduated in 2008.   Dr. Erez is interested in translational research that uses mouse genetics to gain insights into human genetic disorders. During her training, Dr. Erez embarked on a project aimed at understanding the pathogenesis of argininosuccinic aciduria (ASA), an inborn error of ureagenesis caused by the deficiency of argininosuccinate lyase (ASL). Dr. Erez generated a novel hypomorphic mouse model of ASA and showed that ASL has a function that was hitherto unknown, as an important regulator of metabolite channeling of arginine for nitric oxide (NO) production. In addition, she showed that tissue specific deficiency of ASL results in decreased NO production that contributes to the long-term complications like the hypertension seen in ASA. The clinical translatability of Dr.Erez’s work was evident when she and her colleagues successfully used NO supplementation to treat an ASA patient with intractable hypertension that was uncontrolled with multiple medications. The beneficial effect of NO therapy was immediate and sustained. Undoubtedly, her findings open new treatment avenues for multiple disorders involving NO dysregulation.
 
In addition, Dr. Erez has been very actively involved in research aimed at understanding the mechanisms and the clinical significance of genomic rearrangements. She has been involved in the description of novel microdeletion and microduplication syndromes and has contributed to understanding the molecular mechanisms that cause genomic rearrangements. Many of her papers are cited in cytogenetic reports from labs across the US further attesting the translatability of her work to the care of patients with genetic disorders.
 
Dr. Erez’s work has resulted in multiple awards and several publications in high impact journals.