|POSITION TITLE/AFFILIATIONS||Attending Physician/ Departement of Neurology, Taipei Veterans General Hospital
Associate Professor/ Departement of Neurology, NYMU
|EDUCATION/TRAINING||1989-1996 MD. National Yang-Ming University, Taipei, Taiwan
1999-2004 Resident in Neurology. Taipei Veterans General Hospital, Taipei, Taiwan
2003-2004 Research Volunteer in Molecular biology. Harvard Medical School affiliated Brigham and Women’s Hospital
2004-2008 PhD degree in Clinical Medicine. National Yang-Ming University
|研究專長||Studies of mutations in GNB4, TFG and KCND3 causing Hereditary Motor Sensory Neuropathy (HMSN or CMT) and Spinocerebellar ataxia 22|
All my interests of research come from my patients with an inherited neurological disease. Usually, they cannot be cured. Elucidating the genetic causes of their diseases is fundamental for further attempt to help them. So the primary aim of my research is to find out the genetic causes of as many patients with inherited neurological diseases possible. Recently, we utilized exome sequencing to identify mutations in GNB4, TFG and KCND3 causing Hereditary Motor Sensory Neuropathy (HMSN or CMT) and Spinocerebellar ataxia 22, respectively. In the meantime, we are also interested in making clear the population-specific features of these inherited neurological disease. In the past few years, we had reported the mutational spectrum and clinical characteristics of HMSN, familial amyotrophic lateral sclerosis (ALS), cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), and paroxysmal kinesigenic dyskinesia (PKD).