Genetics of Female Infertility in Humans

TY - CHAP

T1 - Genetics of Female Infertility in Humans

AU - Bhagavath, Bala

AU - Layman, Lawrence C.

N1 - Funding Information: Disruption of the reproductive axis may result in human disease at the level of the hypothalamus, pituitary, gonad, or outflow tracts. Many of the mutations in genes affect fertility in females. Additional genes will continue to be identified, and this will no doubt be enhanced by next generation DNA sequencing and probably by genome wide association studies. The identification of new genes in humans continues to improve our understanding of the pathophysiology of reproductive dysfunction, which will assist in genetic counseling and ultimately in treatment. Biographies Dr Lawrence C Layman is the Robert B. Greenblatt, M.D., Chair in Endocrinology and a professor and Chief of the Section of Reproductive Endocrinology, Infertility, & Genetics in the Department of Obstetrics & Gynecology at Georgia Health Sciences University, a position he has held since 1999. He is also a faculty member of the School of Graduate Studies, the Institute of Molecular Medicine & Genetics, The Medical College of Georgia, and the Neuroscience Program. He is board certified in four specialties—Obstetrics & Gynecology; Reproductive Endocrinology & Infertility; Clinical Genetics; and Clinical Molecular Genetics. Dr Layman went to medical school at the University of Cincinnati and completed a residency in Obstetrics & Gynecology at the University of Louisville followed by a fellowship in Reproductive Endocrinology and Genetics at the Medical College of Georgia. He is a physician–scientist who has been a principle investigator on four NIH grants, including continuous funding from1997–2015 for the “Genetics of Delayed Puberty.” He was among the first to identify and characterize mutations in the FSHB , GNRHR , CHD7 , NELF , and WDR11 genes in human hypogonadotropic hypogonadism. He has nearly 100 publications and 16 book chapters. Dr Layman is currently serving as a member of the Editorial Board for the Journal of Clinical Endocrinology & Metabolism , and is an ad-hoc reviewer for more than 20 genetics and reproductive medicine journals. He has participated as a member of multiple NIH study sections, including chairing the Reproductive Medicine Network Study Section in 1999 and 2007. He has served on national committees of the American Society of Reproductive Medicine, American College of Obstetrics & Gynecology, and the American College of Human Genetics. He has won awards in the areas of clinical medicine, research, and education including Best Doctors in America, as well as GHSU awards including: the Distinguished Faculty Award for Clinical Science Research (2002 and 2007), the APGO Award for Excellence in Undergraduate Teaching in Obstetrics & Gynecology (2010), and the 2009–2010 Exemplary Teaching Award for Medical Student Education. He was recently named the Robert B Greenblatt, MD Endowed Chair in Endocrinology. He is a member of the MD/PhD Admissions Committee and Co-Chairs the GHSU Institutional Grants Program. He mentors graduate students, medical students, residents, and faculty and has served as the PhD advisor for three graduate or MD/PhD students. Bala Bhagavath completed his medical education at Madras Medical College in India. He then completed his training in Obstetrics and Gynecology in the United Kingdom and is a fellow of the Royal College of Obstetricians and Gynaecologists. He spent four years as a registrar in obstetrics and gynecology at the National University Hospital in Singapore before moving to the United States to complete a residency in Obstetrics and Gynecology at the Medical College of Georgia and a fellowship in Reproductive Endocrinology and Infertility at the UT Southwestern Medical Center. He is board certified in the USA in Obstetrics and Gynecology and subspecialty certified in Reproductive Endocrinology and Infertility. He developed an interest in the genetics of female infertility early in his career and has published many peer reviewed articles. He is currently a Clinical Assistant Professor in Obstetrics and Gynecology at Warren Alpert School of Medicine at Brown University, Providence, RI. He has just relocated to his new position as Associate Professor of Obstetrics and Gynecology, Director, Fellowship in Minimally Invasive Gynecologic Surgery, University of Rochester.

PY - 2013/1/1

Y1 - 2013/1/1

UR - http://www.scopus.com/inward/record.url?scp=84882759733&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84882759733&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-383834-6.00040-9

DO - 10.1016/B978-0-12-383834-6.00040-9

M3 - Chapter

AN - SCOPUS:84882759733

SN - 9780123838353

SP - 1

EP - 24

BT - Emery and Rimoin's Principles and Practice of Medical Genetics

PB - Elsevier

ER -