Abstract

This proposal seeks support to allow the applicant protected time for patient oriented research in metabolic bone disease and to mentor beginning clinicians in early phases of their career in clinical research. The research and mentoring programs are centered around three projects. Project 1 employs family studies to apply the positional cloning approach to identify the gene responsible for autosomal dominant hypophosphatemic rickets. Project 2 also entails studying large kindreds to identify the gene responsible for type 2 autosomal dominant osteopetrosis. This project also studies whether obligate carriers have mild, clinically detectable alterations in osteoclast function. Project 3 is a sibling pair study which uses nonparametric linkage analysis to identify regions of the genome that predispose to low peak bone mass, a necessary prerequisite to identifying these genes. All of the proposed investigations involve human subjects and the projects provide an excellent opportunity to mentor beginning clinicians. Additionally, the PI has extensive experience and success in the study of kindreds with various forms of metabolic bone disease.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Midcareer Investigator Award in Patient-Oriented Research (K24)
Project #
5K24AR002095-03
Application #
6374766
Study Section
Special Emphasis Panel (ZAR1-BHD-A (J1))
Program Officer
Mcgowan, Joan A
Project Start
1999-06-01
Project End
2004-05-31
Budget Start
2001-06-01
Budget End
2002-05-31
Support Year
3
Fiscal Year
2001
Total Cost
$108,205
Indirect Cost

  Institution

Name
Indiana University-Purdue University at Indianapolis
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
005436803
City
Indianapolis
State
IN
Country
United States
Zip Code
46202

  Publications

Waguespack, Steven G; Hui, Siu L; Dimeglio, Linda A et al. (2007) Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. J Clin Endocrinol Metab 92:771-8
Ichikawa, S; Johnson, M L; Koller, D L et al. (2006) Polymorphisms in the bone morphogenetic protein 2 (BMP2) gene do not affect bone mineral density in white men or women. Osteoporos Int 17:587-92
Chu, Kang; Snyder, Richard; Econs, Michael J (2006) Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties. J Bone Miner Res 21:1089-97
Peacock, Munro; Koller, Daniel L; Lai, Dongbing et al. (2005) Sex-specific quantitative trait loci contribute to normal variation in bone structure at the proximal femur in men. Bone 37:467-73
Ichikawa, Shoji; Koller, Daniel L; Peacock, Munro et al. (2005) Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and women. J Clin Endocrinol Metab 90:5921-7
White, Kenneth E; Cabral, Jose M; Davis, Siobhan I et al. (2005) Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet 76:361-7
Chu, Kang; Koller, Daniel L; Snyder, Richard et al. (2005) Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes. Bone 37:655-61
Koller, Daniel L; Ichikawa, Shoji; Johnson, Michelle L et al. (2005) Contribution of the LRP5 gene to normal variation in peak BMD in women. J Bone Miner Res 20:75-80
Peacock, Munro; Koller, Daniel L; Fishburn, Tonya et al. (2005) Sex-specific and non-sex-specific quantitative trait loci contribute to normal variation in bone mineral density in men. J Clin Endocrinol Metab 90:3060-6
Ichikawa, Shoji; Lyles, Kenneth W; Econs, Michael J (2005) A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. J Clin Endocrinol Metab 90:2420-3

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