This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. DESCRIPTION (provided by applicant): 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 description 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

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
5U54RR019484-05
Application #
7380791
Study Section
Special Emphasis Panel (ZRG1-EDC-1 (50))
Project Start
2006-08-01
Project End
2007-07-31
Budget Start
2006-08-01
Budget End
2007-07-31
Support Year
5
Fiscal Year
2006
Total Cost
$1,021,241
Indirect Cost
Name
Mount Sinai School of Medicine
Department
Pediatrics
Type
Schools of Medicine
DUNS #
078861598
City
New York
State
NY
Country
United States
Zip Code
10029
New, Maria I; Abraham, Moolamannil; Gonzalez, Brian et al. (2013) Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci U S A 110:2611-6
Meyer-Bahlburg, Heino F L; Dolezal, Curtis; Haggerty, Rita et al. (2012) Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Eur J Endocrinol 167:103-10
Meyer-Bahlburg, Heino F L; Dolezal, Curtis; Johnson, Laurel L et al. (2010) Development and validation of the pregnancy and infant orientation questionnaire. J Sex Res 47:598-610
Ba?, Firdevs; Kayserili, Hülya; Darendeliler, Feyza et al. (2009) CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children. J Clin Res Pediatr Endocrinol 1:116-28
Griggs, Robert C; Batshaw, Mark; Dunkle, Mary et al. (2009) Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab 96:20-6
Meyer-Bahlburg, Heino F L; Dolezal, Curtis; Baker, Susan W et al. (2008) Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. Arch Sex Behav 37:85-99
Wilson, Robert C; Nimkarn, Saroj; Dumic, Miro et al. (2007) Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Mol Genet Metab 90:414-21
Meyer-Bahlburg, Heino F L; Dolezal, Curtis (2007) The female sexual function index: a methodological critique and suggestions for improvement. J Sex Marital Ther 33:217-24
Nimkarn, Saroj; Lin-Su, Karen; Berglind, Niklas et al. (2007) Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab 92:137-42
Meyer-Bahlburg, Heino F L; Dolezal, Curtis; Zucker, Kenneth J et al. (2006) The Recalled Childhood Gender Questionnaire-Revised: a psychometric analysis in a sample of women with congenital adrenal hyperplasia. J Sex Res 43:364-7

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