Genetic Mapping, Mutational Analysis and Functional study of Human rare genetic diseases
Taiwan (FMS-Taiwan) - Tzu Chi University, Hualien
Department of Molecular Biology and Human Genetics
Peng Yeong Woon
Yung-Hao Ching
English, Mandarin
4 weeks
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Type of Research Project
- Basic science
What is the background of the project?
Our lab will prepare students with essential research skills in both human genetics and mouse genetics. Our lab studies the genetic basis of rare genetic diseases including Alzheimer’s diseases (AD), Usher syndrome (USH), and Retinitis Pigmentosa (RP). We actively collaborating with the Memory clinic and the ophthalmology department at Tzu Chi General Hospital, Hualien. Patients with family history of AD, USH or RP will be recruit to our laboratory. Genomic DNA will be extracted to perform mutational analysis. Patients will first be screen for known candidate genes. If no mutations were found in the known genes, linkage analysis followed by whole-exome sequencing will be performed to identify the disease- causing genes. Functional studies will be performed at cellular level, tissue level or at organism level to further understand the molecular mechanisms of the diseases.
What is the aim of the project?
Our final goal would be to understand the molecular mechanisms of the diseases. The short- term aims of the project are to develop genetic diagnostic tools and understanding mutation distribution, and the long-term goals are to understand the molecular mechanisms of the diseases potential treatments.
What techniques and methods are used?
The project student will have his or her own project. Depending on the situations, they will be performing the following techniques: PCR, Western blotting, molecular cloning, mutational analysis, Linkage analysis, Human Exome sequencing, sequencing analysis, Mutation detection, Primer design, molecular cloning, cell culture, cell proliferation assay, database search, functional study of the gene, mouse breeding and care, and genotyping.
What is the role of the student?
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
Students are expected to work on their own project during regular working hours, we also have weekly lab meeting and all lab members are expected to attend. Students need to meet with P.I. to discuss their progress once a week. At the end of the project, students are expected to write up their research in formal manner using template provided by the lab and also give an oral presentation to evaluate their performance.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- The student will prepare a presentation
- The student will prepare a scientific report
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Students will gain knowledge in human genetics and mouse genetics. We would expect a final presentation and a scientific report. institutional review board (IRB), or of any chance possess any other forms of certification recognized for handling human specimens. If incoming do not possess the certification from IRB, there will also be a 4-hours training prior to the start of the project to aid in the knowledge of handling the samples.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts:
- Medical students
- Graduated students (less than 6 months)
- Pre-Medical students from the American-British system
- details can be found on our lab homepage :