This project will conduct functional studies in collaboration with the NIH Intramural Undiagnosed Diseases Program (NIH-UDP) to investigate the underlying genetics, biochemistry, cell biology, and pathophysiology of a novel disease that has been linked to a variant of the YPEL3 gene identified through the NIH-UDP.
Patients from the NIH Intramural Undiagnosed Diseases Program (NIH-UDP) present with complex phenotypes of unknown etiology. Clarification of the underlying genetics, biochemistry, cell biology, and physiology of these disorders will lead to a better understanding of their disease processes and those of related disorders. A functional analysis of the suspected abnormal allele is a critical step in the process leading to diagnosis and potential treatment of patients with these rare diseases. This project will investigate the causal link between the YPEL3 genetic defect, identified in the NIH-UDP, and patient phenotypes.
| Wangler, Michael F; Yamamoto, Shinya; Chao, Hsiao-Tuan et al. (2017) Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics 207:9-27 |
