Harvard Catalyst Profiles

I am a physician scientist seeking to better understand the mechanisms involved in the control of the reproductive axis and pubertal initiation with a particular focus on the genetics of pubertal disorders. I completed my medical school, residency and endocrinology fellowship training in Brazil and went on to receive my PhD from the University of São Paulo, Brazil, under the mentorship of Dr. Ana Claudia Latronico. During my Ph.D. training, I focused on the study of mutations of the G-protein coupled receptor PROKR2 and its ligand PROK2 in patients with hypogonadotropic hypogonadism and how mutations in PROKR2 affect receptor function, seeking to expand knowledge about the physiology of this receptor. I have also been involved in studies to investigate how mutations in KISS1 and TACR3 genes are involved in GnRH regulation. More recently, in a collaborative study we identified novel loss-of-function variants in a new gene associated with central precocious puberty, MKRN3. This gene is the first imprinted gene associated with central precocious puberty and the most common genetic cause of this disorder identified so far. The understanding of the etiology of neuroendocrine reproductive disorders is evolving, but there are still many unknown genes and/or networks that are required for normal neuroendocrine control of reproductive development and function. Therefore, this field presents many new and interesting opportunities for additional research.