Natalie Shaw, M.D., an NIEHS clinical investigator and pediatric endocrinologist, has won two prestigious awards. Shaw will receive the American Society for Clinical Investigation (ASCI) 2017 Young Physician-Scientist Award, and the 2017 Endocrine Society Early Investigator Award. The groups will present the awards at their respective annual meetings in April.
Each year, ASCI recognizes young physician-scientists supported by the National Institutes of Health who are early in their first faculty appointment and have made significant achievements in their research. Nominations come from members of the group’s honor society, which includes physician-scientists from the upper ranks of academic medicine and industry. Shaw was nominated by NIEHS Scientific Director Darryl Zeldin, M.D.
“We knew that Dr. Shaw was going to be a star when we hired her as a Lasker Clinical Research Scholar and tenure-track researcher in 2015,” Zeldin commented. “She has a remarkable degree of scientific creativity and discipline as a physician-scientist and is highly deserving of this recognition by ASCI.”
Does body weight affect timing of puberty in girls?
Shaw’s group launched the NIEHS Body Weight and Puberty Study (see sidebar) to determine whether body weight affects when puberty begins and ends in girls.
Recent papers that reported earlier ages of breast development in overweight girls may be inaccurate, Shaw suggested. Her new research is designed to determine whether tissue identified as breast tissue on physical examinations in other studies might actually be fatty tissue that has been misidentified.
“There can be significant consequences when we redefine what’s normal for pubertal timing, so we need to be sure we are right about this,” she explained. “For example, a 7-year-old girl with real pathology, such as a brain tumor causing early puberty, might be missed if age seven were to become the new normal for breast development.”
To help figure out if physical examination can reliably distinguish breast tissue from fatty tissue, Shaw and her team perform breast ultrasounds on study participants and compare results with those obtained from physical examination alone. The study also includes other tests that measure body fat and hormone levels.
Patient interaction leads to breakthrough finding
“Dr. Shaw’s research is very closely linked to her medical practice,” explained Stavros Garantziotis, M.D., medical director of the NIEHS Clinical Research Unit (CRU). “In fact, her most recent breakthrough finding was prompted by her interaction with a patient with a rare disease that affects sexual maturation and fertility.”
Her paper in the January issue of Nature Genetics describes how Shaw and an international group of researchers traced the cause of human arhinia, or absent nose, to the gene SMCHD1, which suppresses the activity of certain genes.
Shaw finds NIEHS to be a rich, stimulating environment and a very collegial place to work. “There were a lot of endocrinologists in my unit at Mass General and that was critical for my training, but everyone had the same, narrow focus,” she said. “At NIEHS, I’ve discovered colleagues doing very different work who are eager to collaborate, and they have provided fresh ideas and perspectives.”
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, Garcia-Ortiz JE, Beitrago TP, Silva OP, Hoffman JD, Muhlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, Fitzpatrick DR, Talkowski ME. 2017. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 49(2):238–248.
Shaw ND, Butler J, Nemati S, Kangarloo T, Ghassemi M, Malhotra A, Hall JE. 2015. Accumulated deep sleep is a powerful predictor of LH pulse onset in pubertal children. J Clin Endocrinol Metab 100(3):1062–1070.
Abel BA, Shaw ND, Brown JM, Adams JM, Alati T, Martin KA, Pitteloud N, Seminara SB, Plummer L, Pignatelli D, Crowley WF Jr, Welt CK, Hall JE. 2013. Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism. J Clin Endocrinol Metab 98(2):E206–E216.
(Wendy Anson, Ph.D., is a contract writer for the NIEHS Office of Communications and Public Liaison.)