(Cluj Napoca) Single nucleotide polymorphism associations in hyperuricemia and gout
Romania (FASMR) - University of Medicine and Pharmacy "Iuliu Hatieganu", Cluj-Napoca
Medical Genetics
Dr. Radu Anghel Popp
Dr Tania Crisan, Dr Orsi Gaal
4 weeks
Cities/Months Jan Feb Mar Apr May Jun Jul Augt Sep Oct Nov Dec
No No No No No Yes Yes No No No No No
Type of Research Project
- Basic science
What is the background of the project?
The natural history of gouty arthritis follows a series of “check-points” in progression which are well-known and straightforward: hyperuricemia results in uric acid crystal deposits, which in turn determine the appearance of gouty inflammation and symptoms. However, most hyperuricemic patients will not develop gout. More interestingly, an important proportion of patients display urate deposits without showing any signs of inflammation. These clinical observations indicate that other factors, next to urate, are needed to explain the inherited or environmental additional susceptibility determinants of the gout phenotype. Moreover, this means that genetic studies should focus on using hyperuricemic controls for disease risk assessment that is specific for gout.
What is the aim of the project?
The objective of this project is to assess whether candidate gene variants are associated to higher susceptibility for goutcompared to hyperuricemic controls
What techniques and methods are used?
Deoxyribonucleic Acids (DNA) will be isolated from patients and controls  Candidate variants will be selected based on hypothesis driven approaches  Genotyping will be performed via TaqMan assays or conventional polymerase chain reaction – based methods  Data analysis and risk parameters calculation will be performed
What is the role of the student?
- The tasks of the student will be performed on his/her own
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
The student is expected to shadow the supervisor, take notes of procedures, and learn protocols. Thereafter, the student will perform his/her own experiments under supervision or individually. They will need to know how to work in the molecular facility, how to calculate stock reagents and correct amounts of volumes to be used. Proper methodologies for working with DNA and avoiding contamination will be important. Use of labjournal and fore-planning will be required.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
No. We will provide guidance and protocols once the student is in the lab. The student is encouraged to read about gout and hyperuricemia to build his/her general background knowledge.
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 scientific report
- The student’s name will be mentioned in a future publication
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Basic science skills are appreciated but not obligatory. The student should know how to correctly use a micropipette!
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
- Students in biomedical fields
- Dental medicine students (IADS members)
- Gout. Dalbeth N; Merriman TR; Stamp LK. Lancet. 2016 Oct 22;388(10055):2039-2052. doi: 10.1016/S0140-6736(16)00346- 9.
- Genomic Influences on Hyperuricemia and Gout. Merriman T. Rheum Dis Clin North Am. 2017 Aug;43(3):389-399. doi: 10.1016/j.rdc.2017.04.004. Review