Pei-lung Chen

Biography

As a geneticist and an endocrine doctor, I have been focusing on identification of the genes responsible for various human diseases, a process being described as “genetic mapping”. Next-generation sequencing (NGS), human leukocyte antigen (HLA) genotyping, other genotyping technologies, model organisms, and bioinformatics are the tools that I use extensively. Genetic mapping is a critical step for individualized medicine and translational medicine. Linkage analysis and association study are the two classical methods; NGS is a new powerful technology for it. Identification of disease-causing/susceptibility genes can facilitate genetic diagnosis, genetic counseling, treatment choice and pathophysiology understanding. Our laboratory can do both complex traits and mendelian disease. The diseases that I am currently working on (or used to study) include Graves’ disease, schizophrenia, hearing impairment, tuberous sclerosis complex, type 1 diabetes, multiple endocrine neoplasia type 1 and 2, familial medullary thyroid cancer, pheochromocytoma/paraganglioma, etc.  NGS is probably the most exciting technology breakthrough in the genetic/genomics field during the past 5-10 years. By massively paralleling the amplification and/or sequencing steps, NGS provides unimaginable high throughput and low cost. There are several NGS platforms available. Our laboratory can handle NGS experiment and data analysis, and has applied NGS to genetic mapping and several other genetic fields. HLA is the human version of the major histocompatibility complex (MHC). HLA is composed of many genes responsible for antigen presentation and a broad range of immune-related functions. Therefore HLA genes are related to numerous human health conditions, including transplantation rejection, infection defense, various autoimmune diseases, etc. HLA genotyping has long been expensive, time-consuming and technique-demanding. My works on HLA include genetic mapping and genotyping technology development.  Additionally, model organisms (e.g. making a mouse model of Graves disease), bioinformatics and other genotyping technologies are all fascinating fields that my laboratory is working on. 

Research Interest

Disease gene mapping, Next-generation sequencing, Human leukocyte antigen (HLA) Endocrinology