PARIS -- (BUSINESS WIRE) -- The international jury under the presidency of Professor Iain Robinson (National Institute for Medical Research, London, UK) awarded on June 23rd, 2014, the 13th Endocrine Regulations Prize of the Fondation Ipsen (20.000€) to Maria I. New (Mount Sinai School of Medicine, New York, USA) during the congress of the ICE/ENDO, the joint meeting of the International Society of Endocrinology and the Endocrine Society (Chicago, USA). She was awarded the Prize for her outstanding work on pediatric endocrinology and especially on congenital adrenal hyperplasia. Her awarding lecture was devoted to her current work on congenital adrenal hyperplasia (CAH).
This disease arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. Currently employed chorionic villus sampling and amniocentesis provide genetic results at ~14 weeks of gestation at the earliest. At this time, the genitalia of the affected female fetuses have already become virilized. To prevent genital ambiguity, prenatal treatment with dexamethasone must begin on or before gestational week 9. This means that all mothers, even those pregnant with male and unaffected female fetuses, must receive dexamethasone, highlighting the need for earlier genetic diagnosis in utero. Fourteen families, each with a proband affected by classical CAH, were recruited and cell free fetal DNA was obtained from maternal plasma. Targeted massively parallel sequencing (MPS) was performed to analyze genomic DNA samples from parents and proband to determine parental haplotypes. In all fourteen families, the fetal CAH status was correctly determined, as early as 5 weeks and 6 days of gestation. MPS on plasma from pregnant mothers could potentially provide the diagnosis of CAH, noninvasively, before the 9th week of gestation and allow only affected female fetuses to be treated. This strategy represents a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders.
Dr. Maria I. New received a distinguished MD degree from the University of Pennsylvania. While Chairman of Pediatrics (1980-2002) at Weill Cornell Medical College, she was Director of its Children’s Clinical Research Center and Chief of Pediatric Endocrinology. In 2004, Dr. New was recruited to The Mount Sinai School of Medicine as the Director of the Adrenal Steroid Disorders Division and was appointed Professor of Pediatrics and Professor of Genetic and Genomic Sciences. She continues her research at Mount Sinai. Dr. New has edited or co-edited 12 medical textbooks, published more than 600 peer-reviewed papers, and served as Editor-in-Chief of the Journal of Clinical Endocrinology and Metabolism. Dr. New conducted pioneering research in the area of congenital adrenal hyperplasia. In addition, Dr. New discovered a new form of hypertension, apparent mineralocorticoid excess, which opened a new field of receptor biology. She also described dexamethasone-suppressible hyperaldosteronism, another form of low-renin hypertension. Dr. New’s clinic sees the largest number of CAH patients in the world. Dr. New was elected President of the Endocrine Society (1992) and the Lawson Wilkins Pediatric Endocrine Society (1985). She was also elected to the Hall of Honor at the NIH (National Institutes of Health) and to the National Academy of Sciences (1996).
The Endocrine Regulations Prize
Created in 2002, this Prize of the Fondation Ipsen has been awarded to the renowned specialists Wylie VALE (2002), Robert LEFKOWITZ (2003), Pierre CHAMBON (2004), Thomas HÖKFELT (2005), Roger CONE (2006), William CROWLEY (2007), Ronald EVANS (2008), Gilbert VASSART (2009) and Shlomo MELMED (2010), Paolo SASSONE-CORSI (2011), Jeffrey M. FRIEDMAN (2012) and Bert O’MALLEY (2013). The members of the jury are: Iain ROBINSON (National Institute for Medical Research, London, UK), President, Xavier BERTAGNA (Hôpital Cochin, Paris, France), Felipe CASANUEVA (University of Santiago de Compostela, Santiago de Compostela, Spain), Michael CONN (ORPC, Beaverton, USA), Ezio GHIGO (Ospedale Molinette, Turin, Italy), Ilpo HUHTANIEMI (Imperial College Faculty of Medicine, London, UK), Gérard KARSENTY (Columbia University Medical Center, New York, USA), Paul KELLY (Faculté de Médecine Necker Enfants Malades, Paris, France), Steven LAMBERTS (Erasmus University, Rotterdam, the Netherlands), Stafford LIGHTMAN (University of Bristol, Bristol, UK), Günter STALLA (Max Planck Institute of Psychiatry, München, Germany) and Phyllis WISE (University of Illinois, Urbana, USA).
The Fondation Ipsen
Founded in 1983 under the aegis of the Fondation de France, the Fondation Ipsen is dedicated to contributing to the development and dissemination of scientific knowledge. During this time, the Fondation Ipsen aims to promote the interaction between researchers and clinicians, essential exchanges because of the extreme specialization of these professions. The Fondation Ipsen’s goal is to incite contemplation of the great scientific challenges for years to come. The Fondation has developed a significant international network of scientific experts, who meet regularly at Medicine and Research Conferences, dedicated to five main themes: Alzheimer's disease, neuroscience, longevity, endocrinology and cancer. Furthermore, since 2007 the Fondation Ipsen has introduced several series of meetings in partnership with the Salk Institute, the Karolinska Institutet, Massachusetts General Hospital, the DMMGF Foundation, as well as with the journals Nature, Cell and Science. The Fondation Ipsen has published over one hundred books and has awarded more than 250 prizes and grants.