2006 Off Campus Research Internship Awardee

Milena Redzic (Biology and Mathematics)

Proposal

Activities Associated with Award

Mentor: Sonja Pavlovic, Ph.D., Institute for Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro

Proposal

Correlation between NOD2/CARD15 and TNF- gene mutations
and the clinical manifestations of Crohnís disease

Inflammatory Bowel Diseases (such as Crohnís disease, ulcerative
colitis, etc.) cause chronic inflammation of the digestive tract. Abdominal pain, persistent diarrhea, rectal bleeding, fever, etc. are the most common symptoms. It is not completely clear what causes Crohnís disease, but the most accepted theory is that the bodyís immune system reacts to a virus or a bacterium by causing an ongoing inflammation in the intestine. It is also believed that the disease has multifactorial genetic background. NOD2/CARD15 gene was identified within chromosome 16, and its three alleles have shown a statistical association with Chronís disease in different European Caucasian populations. Recent studies show that TNF- (Tumor Necrosis Factor ñalpha) gene polymorphisms have an important role in phenotype modulation in patients with Crohnís disease. It has also been established that the -308 polymorphism in the TNF- promoter is responsible for certain extra-intestinal manifestations of the IBD, which is very important in the prognosis and further treatment of such patients.The manifestations of mutations in NOD2/CARD15 gene and the -308 polymorphism in the TNF- promoter have not been sufficiently studied in Serbian patients with Crohnís disease. Thus, it is of scientific and clinical importance to establish the genotype of the patients at these loci and stratify the patients by the disease progress and treatment response.

Research Phases:

Week 1:
1. DNA isolation from the blood samples of patients with Crohnís disease
and healthy control subjects (phenol/chlorophorm)

Weeks 2-3:
2. Optimization of the PCR-RFLP (Polymerase Chain Reaction- Restriction
Fragment Length Polymorphism) method for detecting the R702W mutation in
exon 4 of the NOD2/CARD15 gene

3. Optimization of the PCR-RFLP method for detecting G908R mutation in
exon 8 of the NOD2/CARD15 gene

4. Optimization of the PCR-RFLP method for detecting L1007fs mutation in
exon 11 of the NOD2/CARD15 gene

5. Optimization of the PCR-RFLP method for detecting -308 mutation in
TNF- gene promoter

Weeks 4-9:
6. DNA analysis of patients with Crohnís disease for the presence of three mutations in NOD2/CARD15 gene

7. DNA analysis of healthy controls for the presence of three mutations in NOD2/CARD15 gene

8. DNA analysis of patients with Crohnís disease for the presence of the -308 mutation

9. DNA analysis of healthy controls for the presence of the -308 mutation

Week 10:
10. Statistical analysis of results

Number of blood samples that will be analyzed: 70 (out of which, 50 with Crohnís disease, 20 healthy controls)
Estimated duration of project: ten weeks

This internship proposal was developed in conjunction with Sonja
Pavlovi, Ph.D., Institute for Molecular Genetics and Genetic
Engineering, Belgrade, Serbia and Montenegro, who has agreed to be my
internship supervisor and mentor.

 

Activities Associated with Award

Poster Presentation:

Presented at the Monthly Seminar of the Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia on August 8th, 2006.

Presented at Bryn Mawr College Summer Science Internship and Fellowship Poster Session Sept. 7th, 2006.

  • Poster Title: CORRELATION BETWEEN NOD2/CARD15 GENE MUTATIONS AND THE CLINICAL MANIFESTATION OF THE CROHN’S DISEASE. Milena Redzic and Sonja Pavlovic.

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