Maria I New, Professor
Weill Medical College Of Cornell Univ 1300 York Avenue New York, Ny 10021
Grant 5M01RR006020-130516 from National Center For Research Resources
Abstract: The continuation of a long-standing protocol conducting diagnostic studies on diverse endocrine disorders involving the adrenal cortex. The hypothesis underlying these studies is that precise correlation may be established between the clinical phenotype and the genotype in those conditions (a) for which the determinant gene has been established, and (b) for which a locus of mutation may be identified in the next period of investigation. We will continue to study prenatal diagnosis and treatment in families at risk for 21-hydroxylase deficiency and improve our capacity to make prenatal diagnoses by detection of unknown mutations in affected alleles. We will seek additional mutations by DNA sequencing when genotype does not correlate with phenotype.
Keywords: endocrine disorder diagnosis, enzyme activity, enzyme deficiency, hydroxysteroid dehydrogenase, hyperadrenalism, hypoadrenalism, prenatal diagnosis, family genetics, gene mutation, steroid metabolism, clinical research, human subject
Sponsored Links Excellgen http://Excellgen.com
EVALUATION OF HORMONAL CHANGES OF ABNORMAL PUBERTY
Maria I New, Professor
Institution:
Grant 5M01RR006020-070386 from National Center For Research Resources
Abstract: This study is designed to evaluate the mechanisms involved in delayed and precocious puberty. Dynamic evaluation of the different components of the hypothalamic, pituitary, gonadal, and adrenal systems will provide a rational approach for the treatment of abnormal puberty.
Keywords: hormone regulation /control mechanism, human puberty, precocious puberty, adolescence (12-20), child (0-11), hypogonadism, hypothalamic pituitary axis, pituitary adrenal axis, pituitary gonadal axis, clinical research, human subject
PSYCHOBIOLOGY OF CONGENITAL ADRENAL HYPERPLASIA
Maria I New, Professor
Institution:
Grant 5M01RR006020-070475 from National Center For Research Resources
Abstract: This project is designed to test the feasibility of a collaboration between NYH-Cumc and NYSPI/CU in pilot testing the hypothesis that C-CAH affected women show more masculinized psychosexual differentiation than do NC-CAH women, with both CAH groups more masculinized than non-CAH controls. Postnatal masculinization and other factors which could influence psychosexual differentiation are also investigated.
Keywords: adrenal hyperplasia, adrenogenital syndrome, psychobiology, psychosexual development, postnatal growth disorder, sex differentiation, clinical research, female, human subject
HYPOADRENAL AND HYPERADRENAL STATES
Maria I New, Professor
Institution:
Grant 5M01RR006020-070126 from National Center For Research Resources
Abstract: The regulation and secretion of adrenal steroids in children with disorders of adrenal steroid secretion, metabolism, or action are being studied to define the pathophysiology of hypoadrenal and hyperadrenal states in childhood.
Keywords: child (0-11), corticosteroid, hormone regulation /control mechanism, hyperadrenalism, hypoadrenalism, adrenal gland, pathologic process, secretion, steroid hormone metabolism, clinical research, human subject
PSYCHOLOGIC DEVELOPMENT AFTER EARLY PRENATAL DEXAMETHASONE EXPOSURE
Maria I New, Professor
Weill Medical College Of Cornell Univ 1300 York Avenue New York, Ny 10021
Grant 5M01RR006020-130549 from National Center For Research Resources IRG: RIRG
Abstract: The purpose of this study is to examine the longterm effects of prenatal treatment of CAH with dexamethasone on cognition and behavior.
Keywords: congenital adrenal hyperplasia, developmental psychology, dexamethasone, embryo /fetus chemotherapy, endocrine disorder chemotherapy, hormone therapy, behavior disorder, cognition disorder, longitudinal human study, behavior test, behavioral /social science research tag, clinical research, human subject
STEROID 21-HYDROXYLASE DEFICIENCY--PHENOTYPE AND GENOTYPE
Maria I New, Professor
Institution:
Grant 5M01RR006020-070507 from National Center For Research Resources
Abstract: The overall aim of this proposal is to correlate clinical phenotype with molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. A large group of patients and their immediate family members will be studied for CYP21 mutations, and both prospective and retrospective analysis will be undertaken to determine how closely in vitro measures of 21-hydroxylase activity are related to the degree of enzyme dysfunction as predicted from in vitro expression studies of certain known mutations.
Keywords: adrenogenital syndrome, enzyme deficiency, family genetics, genotype, oxygenase, phenotype, cytochrome P450, gene mutation, clinical research, human subject
Maria I New, Professor
Weill Medical College Of Cornell Univ 1300 York Avenue New York, Ny 10021
Grant 5M01RR006020-120516 from National Center For Research Resources
Abstract: The continuation of a long-standing protocol conducting diagnostic studies on diverse endocrine disorders involving the adrenal cortex. The hypothesis underlying these studies is that precise correlation may be established between the clinical phenotype and the genotype in those conditions (a) for which the determinant gene has been established, and (b) for which a locus of mutation may be identified in the next period of investigation. We will continue to study prenatal diagnosis and treatment in families at risk for 21-hydroxylase deficiency and improve our capacity to make prenatal diagnoses by detection of unknown mutations in affected alleles. We will seek additional mutations by DNA sequencing when genotype does not correlate with phenotype.
Keywords: endocrine disorder diagnosis, enzyme activity, enzyme deficiency, hydroxysteroid dehydrogenase, hyperadrenalism, hypoadrenalism, prenatal diagnosis, family genetics, gene mutation, steroid metabolism, clinical research, human subject
Project start date: 2001-12-01
Project end date: 2002-11-30
Sponsored Links Excellgen http://Excellgen.com
APPARENT MINERALOCORTICOID EXCESS
Maria I New, Professor
Weill Medical College Of Cornell Univ 1300 York Avenue New York, Ny 10021
Grant 5M01RR006020-130527 from National Center For Research Resources
Abstract: Since the discovery of the disease, Apparent Mineralocorticoid Excess (AME), in 1977 by Dr. New, the enzymatic defect (11beta-hydroxysteroid dehydrogenase type II) causing the disease has been described. Recently, mutations in the gene encoding the enzyme have been described. The phenotype of the disease includes failure to thrive in early childhood, hypertension, hypokalemia, suppressed renin, and low secretion of all adrenal steroids. Recently, an exception to this phenotype has been found, in an inbred population. We plan to investigate the prevalence of the disease and the mutations in this population. As the disease has a high fatality rate, we plan to carry out long-term follow-up and treatment of patints investigated earlier in our Children s Clinical Research Center. Pre-emptive renal transplantation for patients with AME will be investigated as a new form of treatment.
Keywords: enzyme deficiency, hormone regulation /control mechanism, human therapy evaluation, hydroxysteroid dehydrogenase, kidney transplantation, mineralocorticoid, epidemiology, gene mutation, longitudinal human study, phenotype, postnatal growth disorder, child (0-11), clinical research, human subject
LOW-RENIN HYPERTENSION OF CHILDHOOD
Maria I New, Professor
Institution:
Grant 5M01RR006020-070458 from National Center For Research Resources
Abstract: Adrenal steroid secretion and metabolism are being studied to define the role of adrenal steroids in various hypertensive disorders of childhood. Understanding the pathophysiology of childhood hypertension will permit specific modes of therapy to be devised and may prevent irreversible hypertension.
Keywords: adrenal hypertension, angiotensin /renin /aldosterone hypertension, child (0-11), hormone regulation /control mechanism, pathologic process, steroid hormone metabolism, clinical research, human subject
Maria I New, Professor
Weill Medical College Of Cornell Univ 1300 York Avenue New York, Ny 10021
Grant 5M01RR006020-130458 from National Center For Research Resources
Abstract: Adrenal steroid secretion and metabolism are being studied to define the role of adrenal steroids in various hypertensive disorders of childhood. Under-standing the pathophysiology of childhood hypertension will permit specific modes of therapy to be devised and may prevent irreversible hypertension. Adrenal steroid secretion and metabolism are being studied to define the role of adrenal steroids in various hypertensive disorders of childhood. Under-standing the pathophysiology of childhood hypertension will permit specific modes of therapy to be devised and may prevent irreversible hypertension.
Keywords: adrenal hypertension, angiotensin /renin /aldosterone hypertension, child (0-11), hormone regulation /control mechanism, pathologic process, steroid hormone metabolism, clinical research, human subject
Sponsored Links Excellgen http://Excellgen.com
Grants awarded to Maria I New
ANDROGEN METABOLISM IN CHILDHOOD
Maria I New, Professor
Cornell University Medical Center New York, Ny 10021
Grant 2R01HD000072-14 from National Institute Of Child Health And Human Development IRG: END
Abstract: We propose to continue to investigate steroidal hormone synthesis, secretion and metabolism in normal children and children with disorders of sexual differentiation, disorders of puberty and disorders of mineralocorticoid function. (A.) In order to achieve these objectives, we shall develop specific, sensitive and precise techniques to measure the following steroidal hormones in biological fluids including blood, urine, saliva and amniotic fluid 1) Radioimmunoassay for aldosterone, deoxycorticosterone, cortisol and corticosterone; 2) Radioimmunoassay for progesterone, 17-OH-progesterone, and 11-deoxycortisol; and 3) Radioimmunoassay for dihydrotestosterone, estrone and estradiol. (B.) These methods will be applied to the following clinical investigations 1. CHILDHOOD HYPERTENSION a. The interrelationship of mineralocorticoids and androgens in childhood hypertension; b. Salivary hormone concentration of aldosterone in normal and hypertensive children. 2. CONGENITAL ADRENAL HYPERPLASIA c. Serum androgens and estrogens as a continuing index of adequacy of treatment of congenital adrenal hyperplasia; d. Effects of sodium balance on glucocorticoid and androgen secretion in congenital adrenal hyperplasia. 3. ABNORMALITIES OF SEX DIFFERENTIATION e. Androgen and estrogen studies in the newborn and young infant with ambiguous genitalia; f. Inborn errors of testosterone synthesis or metabolism resulting in male pseudohermaphroditism.
Keywords: ADRENAL GLANDS DISORDERS, ADRENAL HYPERTENSION, ADRENAL GLANDS DISORDERS, ADRENOGENITAL SYNDROME, ANDROSTANE SERIES, ANDROGENS, ENDOCRINOLOGY STUDY SECTION, ENDOCRINOLOGY, HORMONES METABOLISM, STEROID HORMONES METABOLISM, REPRODUCTIVE AND SEX DEVELOPMENT DISORDERS, HERMAPHRODITISM, PSEUDOHERMAPHRODITISM, ADRENAL CORTEX HORMONES, ALDOSTERONE, ADRENAL CORTEX HORMONES, GLUCOCORTICOIDS, ADRENAL CORTEX HORMONES, MINERALOCORTICOIDS, ADRENAL GLANDS DISORDERS, ADRENAL HYPERPLASIA, CHILD DEVELOPMENT (NON-PSYCHOLOGICAL), CHILDREN, ADOLESCENCE (12 TO 21 YRS), CHILDREN, INFANT NEWBORN (BIRTH TO 4-6 WKS), ENDOCRINOLOGY, ENDOCRINE DISORDERS CHEMOTHERAPY, ENDOCRINOLOGY, HORMONES BIOSYNTHESIS, STEROID HORMONES BIOSYNTHESIS, ESTRATRIENE SERIES, ESTROGENS, CHEMISTRY, CLINICAL, HUMAN, TISSUES, FLUIDS ETC. FROM NON-RELATED SOURCES OUTSIDE IMMEDIATE PROJECT*, IMMUNOLOGICAL TESTS AND IMMUNOASSAY, RADIOIMMUNOASSAY*
Project start date: 1977-06-01
Project end date: 1982-05-31
ANDROGEN METABOLISM: IN CHILDHOOD
Maria I New, Professor
Weill Medical College Of Cornell Univ 1300 York Avenue New York, Ny 10021
Grant 2R01HD000072-24 from National Institute Of Child Health And Human Development IRG: END
Abstract: We plan to investigate congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency (21-OHD), a defect of cortisol biosynthesis inherited as an autosomal recessive trait linked to the HLA major histocompatibility complex. A mild variant of this disorder, "non-classical" (NC) 21-OHD, is among the most common human autosomal recessive diseases, with symptoms including hirsutism and infertility. We propose a screening program in a high risk ethnic population to confirm the present high estimates of the frequency of this disorder, and to provide a suitable patient population in which the natural history of this disorder may be prospectively studied. This is likely to have significant impact on therapeutic decisions regarding individuals with this disorder. Two thirds of patients with the more severe "classical" form of 21-OHD have an additional defect in aldosterone biosynthesis which can result in salt-wasting, shock and death, especially in thee neonatal period. We will investigate the role of allelism in determining the salt-wasting phenotype. We will also examine epigenetic factors which might influence salt-wasting in individuals who have recovered the capacity to synthesize aldosterone, and in HLA-identical sibs with 21-OHD who are nevertheless discordant for salt-wasting. The normal "21-OHase B" gene, which encodes a specific cytochrome P450, has previously been isolated and characterized. One-fourth of classical 21-OHD alleles are deletions of this gene. Non-deleted mutant genes responsible for different forms of 21-OHD will be isolated from individuals who carry a heterozygous deletion of the 21-OHase B gene. Each mutation will be identified by DNA sequencing, and, when the effect of a mutation is not apparent from inspection of the sequence, the mutant gene will be expressed by transfection into an adrenocortical cell line. Thus, the functioning of each mutant gene can be correlated with clinical presentation. This will provide a new modality for the evaluation of this common disease, particularly applicable to prenatal diagnosis.
Keywords: ADRENAL CORTEX HORMONES, ALDOSTERONE, ADRENAL GLANDS DISORDERS, ADRENAL HYPERPLASIA, ANDROSTANE SERIES, ANDROGENS, ENDOCRINOLOGY STUDY SECTION, ENDOCRINOLOGY, HORMONAL REGULATION AND CONTROL (MECHANISMS), ENDOCRINOLOGY, HORMONES METABOLISM, STEROID HORMONES METABOLISM, METABOLIC DISORDERS INBORN, OXYGENASES, STEROID MONOOXYGENASES (GENERAL), CHILD DEVELOPMENT (NON-PSYCHOLOGICAL), CHILDREN, ADOLESCENCE (12 TO 21 YRS), DISEASES, MOLECULAR LEVEL STUDIES (GENERAL), ENDOCRINOLOGY, HORMONES BIOSYNTHESIS, STEROID HORMONES BIOSYNTHESIS, GENETIC DISORDERS, AUTOSOMAL RECESSIVE CONDITIONS, GENETICS, GENES, ALLELES, GENETICS, GENES, GENE EXPRESSION, GENETICS, MUTATION, CHROMOSOME MUTATION, DELETION, GENETICS, POPULATION GENETICS, GENE FREQUENCIES, HEMOPROTEINS, CYTOCHROME P450, METABOLIC DISORDERS INBORN DIAGNOSIS, NUCLEIC ACIDS STRUCTURE, NUCLEOSIDES (TIDES) SEQUENCE, PITUITARY-DIENCEPHALON HORMONES, ACTH, PITUITARY-GONADAL AXIS, POPULATION STUDIES HUMAN, PREGNANCY LOSS, ABORTION, PREGNANCY, ANTEPARTUM DIAGNOSIS, STEROIDS, 21-HYDROXYSTEROIDS, TISSUE COMPATIBILITY-TRANSPLANT, ISOALLOIMMUNITY, genetic manipulation, genetic mapping, CHEMISTRY, ANALYTICAL METHODS, SPECTROMETRY, MASS, CHEMISTRY, CLINICAL, GENETIC DISORDERS DIAGNOSIS, GENETICS, GENETIC LIBRARIES, HUMAN, CLINICAL, NUCLEIC ACIDS, COMPLEMENTARY DNA, PHYSICAL SEPARATION, ELECTROFOCUSING, PHYSICAL SEPARATION, ELECTROPHORESIS, GEL
Project start date: 1977-06-01
Project end date: 1992-05-31
ANDROGEN METABOLISM IN CHILDHOOD
Maria I New, Professor
Weill Medical College Of Cornell Univ 1300 York Avenue New York, Ny 10021
Grant 3R37HD000072-38S1 from National Institute Of Child Health And Human Development IRG: ZRG4
Abstract: This is a revised submission of a grant in its 32nd year of funding. The primary emphasis is on the correlation of genotype of phenotype combining molecular and clinical studies. Two monogenic defects will be studied 21-hydroxylase deficiency, which results in the disease Congenital Adrenal Hyperplasia (CAR), and 11beta-HSD2 deficiency, which is the cause of the disease Apparent Mineralocorticoid Excess (AME). We have recruited a medical informatics specialist who has established a database describing the longitudinal data of patients with CAH followed by Dr. New for over 30 years. The database includes extensive clinical and molecular genetics studies of 357 patients with CAR and will be analyzed to determine the final outcome of patients treated with glucocorticoid. The long term effects of prenatal treatment of CAH with dexamethasone on cognition and behavior will be studied. We have discovered a new mild form of AME in a consanguineous Mennonite family and have an opportunity to investigate whether others in their 2,000- member congregation have mutations in the 11HSDB2 gene similar to our patient. We will also study the effect of mineralocorticoids and glucocorti-coids on collagen synthesis in vivo and in vitro in 11beta- HSD2 deficiency. Overall, we propose to continue the investigation of steroid disorders with our newly constituted team consisting of Drs. New, Wilson, Obeid, Hanauske-Abel, Newfield, and Meyer-Bahlburg. Our recent progress attests that this team is capable of advancing the work started 33 years ago. The strengths of our group are 1) The rich source of patients referred to our division for diagnosis of steroid disorders and hypertension. 2) We are the only group in the U.S.A. routinely carrying out prenatal diagnosis and treatment of CAR and thus have accumulated a large population of prenatally-treated infants to- study. 3) As Dr. New has remained at NYH-CMC since 1955, patients with steroid disorders from birth to adulthood are followed. Rarely has a group of patients been so carefully documented continuously with clinical, hormonal, and molecular genetics data. 4) Dr. Wilson brings special expertise in molecular genetics and works compatibly with the clinical teams. 5) Dr. Ranauske-Abel adds a new dimension, with the investigation of pro-and antifibrotic effects of steroid hormones in patients and in cultured human cells. 6) The harmonious interaction of molecular geneticists, biochemists, psychoendocrinologists, and clinicians with great experience in dealing with patients.
Keywords: angiotensin /renin /aldosterone hypertension, cardiovascular disorder chemotherapy, congenital adrenal hyperplasia, dexamethasone, embryo /fetus chemotherapy, endocrine disorder chemotherapy, human therapy evaluation, metabolism disorder chemotherapy, reproductive system disorder chemotherapy, androgen, collagen, corticosteroid, gene induction /repression, outcomes research, protein biosynthesis, steroid hormone metabolism, adolescence (12-20), behavioral /social science research tag, child (0-11), clinical research, human subject, young adult human (21-34)
Project start date: 1977-06-01
Project end date: 2007-06-30
3R37HD000072-38S1 (2003): $247055
5R37HD000072-37 (2001): $352863
5R37HD000072-36 (2000): $342587
5R37HD000072-35 (1999): $332676
5R37HD000072-34 (1998): $505305
2R01HD000072-33A1 (1997): $582251
5R37HD000072-42 (2006): $705730
Sponsored Links Excellgen http://Excellgen.com
5R37HD000072-41 (2005): $710354
7R37HD000072-40 (2004): $698353
5R37HD000072-39 (2003): $772304
AMBIGUOUS GENITALIA CONFERENCE
Maria I New, Professor
Pediatricsweill Medical College Of Cornell Univ
1300 York Avenue
new York, Ny 10021
Grant 1R13HD040329-01 from Eunice Kennedy Shriver National Institute Of Child Health & Human Development IRG: ZHD1
Abstract: The scientific conference scheduled for the first week of September 2001 is titled, "Ambiguous Genitalia In The Newborn Genetics, Pathophysiology, Management, and Outcome," will be held in Gubbio, Italy. Gubbio is a medieval town in Tuscany with a hotel, Hotel Del Cappuccini, which contains outstanding facilities for a conference. These facilities can accommodate both speakers and attendees (see Appendix 1). The conference is being proposed in Italy to (a) minimize conflict resulting from controversies among advocacy groups, (b) the facilities are cheaper, (c) the Italian professional community is undertaking all expenses except air travel. Dr. Maria I. New and Dr. Jean Wilson who, will be in charge of planning and conducting the meeting, will chair the conference. An international scientific committee is in place as well as scheduled speakers who are world leaders in the specific subjects. The proposed program is included in this proposal as Appendix II. This will be the first international conference of its kind dealing with the long-term outcome of the management of intersex disorders. Included in the analysis of outcome will be the genetic diagnosis, the phenotype, management (both medical and surgical), and the family dynamics. Outcome will be evaluated in terms of professional success, fertility, gender, and social success. is requesting partial support of the estimated cost of travel expenses for speakers to attend the conference, announcements, and publication expenses. The remainder of the cost in Italy will be entirely borne by ´s Italian colleagues -- including hotel, lodging, technical, travel in Italy, and administrative costs
Keywords: meeting /conference /symposium, sex differentiation disorder
Project start date: 2001-04-01
Project end date: 2003-03-31
1R13HD040329-01 (2001): $10000
ANDROGEN METABOLISM IN CHILDHOOD
Maria I New, Professor
Pediatricsweill Medical College Of Cornell Univ
1300 York Avenue
new York, Ny 10021
Grant 5R01HD000072-31 from National Institute Of Child Health And Human Development IRG: END
Abstract: The investigations described will elucidate the relationship between clinical phenotype and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) . Patients with each of the three phenotypic forms i.e., salt-wasting, simple virilizing, and nonclassic 21-OHD will be categorized by detailed endocrinologic studies, and DNA samples will be obtained from patients and family members. In Specific Aim 1, specific alleles land genotype combinations will be identified and correlated with each of the above-named groups. Presence or absence of 8 functionally important mutations in the CYP21 gene encoding the active 21-hydroxylase will be analyzed by allele-specific oligonucleotide hybridizations after amplification of genomic DNA in the polymerase chain reaction; gene copy number will be assessed by Southern blot. Segregation of mutations found in individual patients will be determined by studying parents. De novo mutations may be identified in this manner. Novel mutations in CYP21 may be sought by direct sequencing of amplified DNA in patients in whom of the typical gene conversion mutations are found. An attempt will be made to relate in vivo measures of 21-hydroxylase activity, such as 17-hydroxyprogesterone and aldosterone levels, to the degree of enzyme dysfunction as predicted from previously published in vitro expression studies. In Specific Aim 2, dietary sodium deprivation will be instituted to identify patients who recover from salt-wasting. The ratio of plasma renin activity to aldosterone will be used as an index of the adrenal´s efficiency in producing aldosterone in patients of pre- and post-pubertal ages. Parallel in vitro studies will focus on characterization of genes encoding other P450 enzymes capable of performing steroid 21-hydroxylation in the adrenal. Specific Aim 3 calls for molecular genetic screening of a newborn population for the mutation found in approximately 80% of nonclassic haplotypes bearing HLA-B14;DR1. This screening will both confirm the high frequency of this disorder, and allow for study of the evolution of clinical manifestations of nonclassic 21-OHD in the young child. Specific Aim 4 will test the usefulness of allele-- specific hybridization in prenatal diagnosis where the CYP21 mutation is known. Safety and efficacy of dexamethasone prenatal treatment of pregnancies at risk for classic 21-OHD will be assessed through careful evaluation of complications of pregnancy and early childhood growth and development of offspring
Keywords: adrenogenital syndrome, enzyme deficiency, family genetics, gene mutation, genotype, mixed function oxygenase, phenotype Native American, adrenocorticotropic hormone, aldosterone, child (0-11), cytochrome P450, dexamethasone, embryo /fetus chemotherapy, enzyme activity, gene conversion, gene frequency, genetic disorder diagnosis, hormone therapy, human therapy evaluation, hydroxylation, hydroxysteroid, prenatal diagnosis, steroid hormone biosynthesis histocompatibility typing, human genetic material tag, human pregnant subject, human subject, northern blotting, polymerase chain reaction, radioimmunoassay, southern blotting
Project start date: 1977-06-01
Project end date: 1996-05-31
5R01HD000072-31 (1994): $285414
5R01HD000072-30 (1993): $306204
Pediatric Endocrinology Research Training Program
Maria I New, Professor
Weill Medical College Of Cornell Univ 1300 York Avenue New York, Ny 10021
Grant 1T32HD041895-01 from National Institute Of Child Health And Human Development IRG: ZHD1
Abstract: The goal of this program is to train highly qualified young pediatricians in the genetics, pathogenesis, evaluation, and management of pediatric endocrine disorders including diabetes and obesity. Training in metabolic, immunological and genetic aspects of the diseases encompassed by the discipline will be emphasized. In addition to the traditional core of training in Pediatric Endocrinology, molecular biology, molecular genetics and gene therapy will be featured, since these new dimensions for diagnosis and treatment of endocrine diseases of childhood will have to be mastered by future leaders of the field. Future gains in the understanding of pediatric endocrine diseases will come about through an integration of basic and clinical sciences and the collaboration of individuals from many and diverse disciplines. The national pool of scientists capable of making the next advances in pediatric endocrinology-diabetology is severely limited. The program at Weill-Cornell has an excellent record of training such leaders; however, sufficient protected time for laboratory research for trainees has been chronically constrained. The Pediatric Endocrine-Diabetes Training Program (Pediatrap) described herein is based on the collaborative mentorship of basic and clinical scientists at the tri-institutional complex of Well-Cornell College of Medicine, Rockefeller University, Memorial Sloan-Kettering, and affiliated Columbia College of Physicians and Surgeons. Two MD trainees who have completed residency and the first year of subspecialty training in Pediatric Endocrinology will be taken into the program for two years of training each year. Qualified applicants from ethnic minorities will be sought through the Endocrine Society and other organizations with minority recruitment objectives. For each trainee, there will be a required core course curriculum and attendance at seminars and symposia, with mentored laboratory training by preceptors with active funded research programs who can support the trainee s investigational experience over a 2-year period. A consulting faculty of experts in a wide range of related disciplines will participate in the lecture series and supplementary laboratory training appropriate to the trainee s research interests. A distinguished executive committee will ensure cohesive and focused use of the tri-institutional complex as well as ongoing evaluation of the program. The strengths of this research training program are the depth and breadth of expertise and training experience of the preceptors, the availability of a pediatric GCRC, the commitment of a distinguished group of consulting faculty, the demonstrated success of the faculty as research mentors, the interactions among the various faculty members and trainees, and the prodigious research resources of four outstanding research institutions. The national need for laboratory training of clinically informed pediatric endocrinologists-diabetologists is acute. The growth in such endocrine disorders as obesity, insulin resistance syndromes, diabetes, hypertension, immune-mediated endocrine diseases, and adrenal and ovarian genetic disorders resents a challenge, which this application is designed to meet.
Project start date: 2002-09-20
Project end date: 2007-04-30
1T32HD041895-01 (2002): $113543
ANDROGEN METABOLISM IN CHILDHOOD--SUPPLEMENT
Maria I New, Professor
Pediatricsweill Medical College Of Cornell Univ
1300 York Avenue
new York, Ny 10021
Grant 5R03TW000978-03 from Fogarty International Center IRG: ICP
Abstract: The general aim of this grant is to compare the differences in biochemical, clinical and genotypic features of 21-hydroxylase deficiency (21-OHD) in patients with congenital adrenal hyperplasia (CAD) of Croatian, Bosnian and Herzegovinian, and Slovenian cultures to patients in the US. The 4 general areas of interest are (1) establishment of a 21-OHD database, (2) analyze mutation frequency, (3) behavioral aspects of hyperandrogenism, and (4) parental diagnostic techniques. The foreign PI, Dr. Miroslav Dumic was awarded a Fogarty Grant (FIC 0295F189) to establish a program for prenatal diagnosis and treatment of CAH due to 21-OHD in Croatia. The current grant will continue and amplify these studies. A data base that has been established will be used to identify specific mutations, analysis of final adult height, analysis of hormone levels, score of genital virilization in females, and compare mutation frequency to NY population. Gender roles, behavior, and identity will be analyzed in detail in XX adults with CAD due to 21-OHD using extensive questionnaires translated into Croatian. Finally, families at risk for 21-OHD will undergo prenatal diagnosis and treatment
Keywords: Bosnia-Hercegovina, adrenogenital syndrome, enzyme deficiency, genetic registry /resource /referral center, human population genetics, information system, oxygenase, patient /disease registry, racial /ethnic difference Europe, computer system design /evaluation, endocrine disorder diagnosis, gene mutation, genotype, human population study, prenatal diagnosis clinical research, human data, human subject, neuropsychological test
Project start date: 1998-09-30
Project end date: 2002-09-29
5R03TW000978-03 (2000): $31500
5R03TW000978-02 (1999): $31500
1R03TW000978-01 (1998): $24641
Sponsored Links Excellgen http://Excellgen.com
Natural History Of Rare Genetic Steroid Disorders
Maria I New, Professor
Mount Sinai School Of Medicine Of Nyu Of New York University New York, Ny 100296574
Grant 5U54RR019484-06 from National Center For Research Resources IRG: ZRG1
Abstract: A consortium of investigators, institutions, and patient support groups will constitute a Rare Disease Clinical Research Network focused on a diverse group of disorders characterized by defects in steroidogenesis. We will study the longitudinal history of these rare disorders and determine the outcome of treatment on height, fertility and gender. Long-standing informal collaboration between investigators at Weill Medical College, Rockefeller University, Columbia University, the University of Texas Southwestern Medical Center, the University of Quebec, Hospital Debrosses (Lyons), and the Hospital das Clinicas da FMUSP (Sao Paulo) will facilitate the creation of a productive cooperative research network that draws on the extensive experience of each investigator. Clinical Research Centers at Weill, Rockefeller, and the University of Texas Southwestern Medical Center will participate. Each investigator in the consortium has followed a large group of patients with a specific genetic defect affecting steroid synthesis over many years, encompassing the natural history of these diseases from prenatal life to death. Creation of a storage and management database will constitute a scaffold for ongoing research, enabling the preservation and use of this large body of clinical data assembled by experts in each disorder. Moreover, design of templates for a standardized clinical of these disorders will permit prospective studies which can offer open enrollment to affected individuals or individuals at risk. Our research group includes the investigators who have identified the molecular genetic defect for each disorder, where known, and who maintain laboratories dedicated to the identification of new mutations. The combination of clinical and molecular genetic information will raise the standard of medical care and may permit development of novel treatments based on detailed knowledge of the natural history and molecular genetic basis of these disorders. Important elements of our plan are (1) to establish the clinical research network which pools data from our sites in cooperation with the DTCC and analyzes this data, (2) to educate young investigators in the management and clinical research of steroid disorders, and (3) to strengthen our connections with patient support groups to enable individuals affected or at risk to have new kinds of input and access to optimal medical care.
Keywords: cooperative study, inborn metabolism disorder, orphan disease /drug, pathologic process, steroid metabolism disorder, clinical research, human subject, patient oriented research
Project start date: 2003-09-30
Project end date: 2008-07-31
5U54RR019484-06 (2007): $490630
5U54RR019484-05 (2006): $1021241
5U54RR019484-04 (2005): $1156489
5U54RR019484-03 (2004): $1123337
1U54RR019484-01 (2003): $1184015
ANDROGEN METABOLISM IN CHILDHOOD
Maria I New, Professor
Pediatricsweill Medical College Of Cornell Univ
1300 York Avenue
new York, Ny 10021
Grant 3R01HD000072-31S1 from National Institute Of Child Health And Human Development IRG: END
Project start date: 1977-06-01
Project end date: 1996-05-31
3R01HD000072-31S1 (1994): $80442
3R01HD000072-30S1 (1993): $72132
ANDROGEN METABOLISM IN CHLDHOOD
Maria I New, Professor
Cornell University Medical Center New York, Ny 10021
Grant 2R01HD000072-09A1 from National Institute Of Child Health And Human Development IRG: END
Project start date: 1972-06-01
Project end date: 1977-05-31
Sponsored Links Excellgen http://Excellgen.com