PEI-LUNG CHEN (陳沛隆)ORCID Follow
|Profile 2016-07-27 08:37:52|
|Career and Experience||
Research Outline 2016-07-20 13:57:27As 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.
Publications 26 2015-07-24 14:58:16
Ordered by publish date
- Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome Human Reproduction 2015 | journal-article vol.30,no.7,page.1732-1742 Scopus: 6 Web of Science: 5 Impact Factor: 4.99
- Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling G3: Genes, Genomes, Genetics 2015 | journal-article vol.5,no.1,page.61-72 Scopus: 10 Web of Science: 13 Impact Factor: 2.742
- Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study Nature Communications 2015 | journal-article vol.6 Scopus: 23 Web of Science: 22 Impact Factor: 12.353
- Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2015 | journal-article vol.771,page.1-5 Scopus: 7 Web of Science: 7 Impact Factor: 2.398
- A fault-tolerant method for HLA typing with PacBio data. 2014 -09 | journal-article
- Genetic Analysis of CARD14 in Non-familial Pityriasis Rubra Pilaris: A Case Series. 2014 -02 | journal-article Scopus: 4 Web of Science: 4 Impact Factor: 3.127
- Predicting HLA genotypes using unphased and flanking single-nucleotide polymorphisms in Han Chinese population BMC Genomics 2014 | journal-article vol.15,no.1 Scopus: 8 Web of Science: 8 Impact Factor: 3.73
- A genome-wide association analysis identifies novel susceptibility loci for coronary arterial lesions in patients with Kawasaki disease Translational Research 2013 | journal-article vol.161,no.6,page.513-515 Scopus: 7 Web of Science: 7 Impact Factor: 4.88
- Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment PLoS ONE 2013 | journal-article vol.8,no.2 Scopus: 12 Web of Science: 12 Impact Factor: 2.766
- Gene-wide tagging study of the effects of common genetic polymorphisms in the α subunits of the GABAA receptor on epilepsy treatment response Pharmacogenomics 2013 | journal-article vol.14,no.15,page.1849-1856 Scopus: 5 Web of Science: 6 Impact Factor: 2.302
- Identification of a novel HLA-B allele, B*07:162, in a Taiwanese individual Tissue Antigens 2013 | journal-article vol.82,no.1,page.60-62 Scopus: 2 Web of Science: 2 Impact Factor: 1.348
- Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. 2013 -10 | journal-article Scopus: 403 Web of Science: 337 Impact Factor: 2.398
- Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. 2013 -10 | journal-article Scopus: 269 Web of Science: 231 Impact Factor: 2.398
- An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report Journal of the Formosan Medical Association 2012 | journal-article Scopus: 0 Web of Science: 0 Impact Factor: 2.452
- Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas Oral Oncology 2012 | journal-article vol.48,no.2,page.125-129 Scopus: 8 Web of Science: 7 Impact Factor: 4.636
- Clinical implication of the C allele of the ITPKC gene SNP rs28493229 in kawasaki disease: Association with disease susceptibility and BCG scar reactivation Pediatric Infectious Disease Journal 2011 | journal-article vol.30,no.2,page.148-152 Scopus: 35 Web of Science: 36 Impact Factor: 2.305
- Comprehensive genotyping in two homogeneous Graves' disease samples reveals major and novel HLA association alleles PLoS ONE 2011 | journal-article vol.6,no.1 Scopus: 32 Web of Science: 31 Impact Factor: 2.766
- Linkage and association on 8p21.2-p21.1 in schizophrenia American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 2011 | journal-article vol.156,no.2,page.188-197 Scopus: 17 Web of Science: 14 Impact Factor: 3.016
- Replication of an association of a common variant in the Reelin gene (RELN) with schizophrenia in Ashkenazi Jewish women Psychiatric Genetics 2010 | journal-article vol.20,no.4,page.184-186 Scopus: 26 Web of Science: 24 Impact Factor: 1.586
- Familiality of novel factorial dimensions of schizophrenia Archives of General Psychiatry 2009 | journal-article vol.66,no.6,page.591-600 Scopus: 48 Web of Science: 41 Impact Factor: 2017 N/A
- Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 in Schizophrenia American Journal of Human Genetics 2009 | journal-article vol.84,no.1,page.21-34 Scopus: 66 Web of Science: 63 Impact Factor: 8.855
- Human genetics of diabetes mellitus in Taiwan Frontiers in Bioscience 2009 | journal-article vol.14,no.12,page.4535-4545 Scopus: 2 Web of Science: 2 Impact Factor: 2.349
- Family-based association study of cytotoxic T-lymphocyte antigen-4 with susceptibility to Graves' disease in Han population of Taiwan Genes and Immunity 2008 | journal-article vol.9,no.2,page.87-92 Scopus: 9 Web of Science: 8 Impact Factor: 2.339
- Linkage of Graves' disease to the human leucocyte antigen region in the Chinese-Han population in Taiwan Clinical Endocrinology 2007 | journal-article vol.66,no.5,page.646-651 Scopus: 7 Web of Science: 8 Impact Factor: 3.077
- Translational repression restricts expression of the C. elegans Nanos homolog NOS-2 to the embryonic germline Developmental Biology 2006 | journal-article vol.292,no.1,page.244-252 Scopus: 47 Web of Science: 49 Impact Factor: 3.262
- Progress in genetic study on graves' disease Journal of Internal Medicine of Taiwan 2001 | journal-article vol.12,no.3,page.111-120 Scopus: 0
Projects 3 2016-07-20 14:00:24
Ordered by project period
Genetic Study and Immunological Analysis of Graves$ Disease and Antithyroid Drug-Induced Adverse Effects (葛瑞夫茲氏病及抗甲狀腺藥物引起副作用之遺傳學研究與免疫學分析)Project Number : MOST105-2314-B002-097-MY3 PI : PEI-LUNG CHEN (陳沛隆) Co-PI : Funding IC : 科技部 Project Period : 10508~10607
Genetic Study of Graves Disease – an Integrated Family-Based and Case-Control Study (葛瑞夫茲氏病之遺傳研究 - 家族及病例對照組之整合性研究)Project Number : NSC100-2314-B002-118-MY3 PI : PEI-LUNG CHEN (陳沛隆) Co-PI : Funding IC : 行政院國家科學委員會 Project Period : 10108~10207
Genetic Study of Graves Disease – an Integrated Family-Based and Case-Control Study (葛瑞夫茲氏病之遺傳研究 - 家族及病例對照組之整合性研究)Project Number : NSC100-2314-B002-118-MY3 PI : PEI-LUNG CHEN (陳沛隆) Co-PI : Funding IC : 行政院國家科學委員會 Project Period : 10008~10107