Natalie Shaw, MD, MMSc

EMAIL: natalie.shaw@nih.gov

PERSONAL WEBSITE: https://www.niehs.nih.gov/research/atniehs/labs/crb/pi/pn

PUBLICATIONS:

Dr. Natalie Shaw is a Lasker Clinical Research Scholar and Head of the Pediatric Neuroendocrinology Group in the Clinical Research Branch at the National Institute of Environmental Health Sciences (NIEHS/NIH) in Research Triangle Park, North Carolina. Dr. Shaw earned her medical degree from the University at Buffalo School of Medicine and a Masters in Medical Sciences from Harvard Medical School. She completed her Pediatrics residency at Children’s Hospital of Pittsburgh, a Pediatric Endocrinology fellowship at Boston Children’s Hospital, and a clinical research fellowship in the Reproductive Endocrine Unit at Massachusetts General Hospital. She was an attending physician at Boston Children’s Hospital until she was recruited to the NIH in 2015.

As a Pediatric Endocrinologist, she studies the environmental and genetic control of pubertal development. She conducts studies in healthy pediatric volunteers that are complemented by genotypic and deep phenotypic studies in patients with rare, syndromic forms of hypogonadism as well as studies in patient-derived neural stem cells. Her studies in healthy pubertal girls have revealed that menstrual irregularity in young adolescents is due to immaturity at all levels of the reproductive axis – the hypothalamus, pituitary, and ovary – and her ongoing studies in this population have demonstrated that there are several distinct developmental trajectories as girls mature from anovulatory to ovulatory menstrual cycles. In studies of patients with Bosma arhinia microphthalmia syndrome, a rare form of congenital GnRH deficiency, she discovered that missense mutations in the gene SMCHD1 are the primary genetic driver of this condition and that loss of SMCHD1 activity disrupts cranial placodogenesis via de-repression of the toxin DUX4.