The scientific goal of this NRSA fellowship proposal is to learn modern statistical genetic methods to elucidate the role of genetic factors influencing the expression of a common form of brachydactyly - BDA3. Preliminary investigation of hand-wrist radiographs indicates a high prevalence of this brachydactyly in the Jirel population, an endogamous population in eastern Nepal. There are two phenotypes of interest - BDA3 and BDA3 with cone-shaped epiphyses. When these forms of brachydactyly appear alone, they are asymptomatic of other major developmental disorders. For this reason they have received little attention over the decades, and certainly since the advent of modern statistical genetic tools. This presents an excellent training opportunity for the applicant. The training plan includes segregation analysis, quantitative genetic analysis, and linkage analysis. These training and scientific goals will be accomplished by analyzing the presence or absence of BDA3 or BDA3 with cone-shaped epiphyses. These data are available from existing hand-wrist radiographs from over 1,300 child participants of the NIH funded Jiri Growth Study, as well as from hand-wrist radiographs that will be collected from approximately 1,400 adult relatives participating in the Jiri Helminth Project. Additionally, extensive pedigree data is available, and over 90% of the study participants will have been genotyped by the time linkage analyses will be conducted. These data and other resources at Wright State University School of Medicine's Lifespan Health Research Center and the Southwest Center for Biomedical Research offer a thoroughly unique opportunity to explore the genetic architecture of this hand anomaly, and for the applicant to expand her skill set within the field of skeletal biology. ? ? ?

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Postdoctoral Individual National Research Service Award (F32)
Project #
5F32HD053206-03
Application #
7442276
Study Section
Special Emphasis Panel (ZRG1-F08-G (20))
Program Officer
Coulombe, James N
Project Start
2006-07-18
Project End
2009-07-17
Budget Start
2008-07-18
Budget End
2009-07-17
Support Year
3
Fiscal Year
2008
Total Cost
$51,278
Indirect Cost
Name
Wright State University
Department
Public Health & Prev Medicine
Type
Schools of Medicine
DUNS #
047814256
City
Dayton
State
OH
Country
United States
Zip Code
45435
Williams, Kimberly D; Subedi, Janardan; Jha, Bharat et al. (2016) Quantitative physical activity assessment of children and adolescents in a rural population from Eastern Nepal. Am J Hum Biol 28:129-37
Williams, K D; Blangero, J; Mahaney, M C et al. (2015) Axial quantitative ultrasound assessment of pediatric bone quality in eastern Nepal. Osteoporos Int 26:2319-28
Williams, Kimberly D; Blangero, John; Subedi, Janardan et al. (2013) Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal. Am J Hum Biol 25:743-50
Williams, Kimberly D; Nahhas, Ramzi W; Cottom, Carol R et al. (2012) Evaluation of qualitative methods for phenotyping brachymesophalangia-V from radiographs of children. Am J Hum Biol 24:68-73
Williams, Kimberly D; Blangero, John; Cottom, Carol R et al. (2007) Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal. Hum Biol 79:609-22