This is the first year of my resarch in NEI. 1. Analyze PAX2 gene for genomic abnormalities This is a continuation of my clinical ophthalmic research from Minnesota. I developed a clinical DNA testing of PAX2 gene for Renal-coloboma Syndrome and have been collecting tested samples for genetic heterogeneity analysis. After I joined NEI, I have successfully recruited a contractor in April to continue the project. Right now, we are working on several techniques to conduct genomic analysis at PAX2 locus and other candidate gene loci. 2. Analyze TRY gene expression This is also a continuation of my clinical research from Minnesota. I have been collecting tested samples for genetic heterogeneity analysis of TRY in Ocular-Cutaneous Albinism. After I joined NEI, I have actively searched for research fellow to work on this project. Unfortunately, hiring procedure has not been through the system, the candidate may not even be able to join us any time soon. I appreciated Dr. Miller and Dr. Sohrabys help that I could have a collaborator temporarily worked for me on this project in the summer. He helped to establish several molecular procedures to analyze the promoter region of TRY gene. Hopefully, I get someone to work on this project quickly. 3. Retinal CHIP -resequencing array This project started several years ago in OGFVB. Since there were many personnel turnover in past year, I inherited the project. I have confidence on the potential of this project. The best way to appreciate the efforts of all authors is to make it work. With Dr. Miller and Dr. Sohrabys help, I was able to secure the support for the operation. First I recruited a very experienced microarray biologist, Dr. Jin Song, in February, 2009. Second, he mastered himself on two major sophisticated equipments very successfully and very quickly. This is a high throughput procedure. Those equipments are essential for the proper operation. We also very went through the project designing and we final established the testing condition. With the helps from Dr. Swaroop and Matthew Brooks from his core facility, we were able to overcome the problem that SAIC-Frederick, NCI could not support for array hybridization and data reading. We can complete the entire procedure within NEI now. We have started the testing of clinical samples. According to the suggestion from the Affymetrix technical support, we will test 20 samples to establish the analysis. Then, we will start to test pending samples in eyeGENE program and also could serve our NEI intramural community for research.
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