Internship History

2009 JJ Vance Interns

For the summer, Elizabeth Elmalch participated in two projects designed to determine genetic risks for Autism. The first project was to sequence all exons of a previously associated autism risk gene, GABRB1, in an attempt to find functional variants. To this end, she assisted in the design of sequencing primers, performed PCR amplification and sequencing reactions for the exons in 100 autism affected individuals, and worked on the sequence data analysis. The second study was part of a larger project to sequence in its entirety a second autism risk gene, GABRA4, using long-range PCR and next generation sequencing technology. Her contribution to this project included optimization of long-range PCR primers as well as amplification and clean-up of several of these regions in 100 affected individuals. Elizabeth will be a rising senior at Miami Palmetto Senior High.

During her internship, Arielle Kushman learnt the techniques of PCR and capillary sequencing. She quickly grasped the concepts of PCR and sequencing and mastered the skills including setting up the reactions, running agarose gels for quality checking, as well as analyzing the chromatography sequencing data with the ‘‘Sequencher’‘ software. Arielle screened 46 HSP patients for mutations in gene SPG3A and discovered 2 mutations that would affect the function of this gene and cause the disease in these patients. Arielle will be a rising senior at Ransom Everglades School in Miami.

India Mcmillan optimized PCR conditions for 14 exons of the Tyrosine Hydroxylase gene. The TH gene plays an important role in the dopamine pathway. Before she left India PCR amplified and sequenced exon 3. She also familiarized herself with the software program – Primer3 used to design PCR primers and learnt how to design primers specific to exons. India attends North Miami Beach High and will be a rising senior this Fall.

Ashli Wright assisted on the autism project, specifically two different studies. The first is investigating the relationship of the methyl-CpG-binding domain (MBD) family to disease, which she participated in by optimizing conditions for PCR, amplifying exonic regions, and sequencing to evaluate the occurrence of genetic mutations. The second project that Ashli participated in was looking to identify a novel genetic cause of autism on human chromosome 12 using deep sequencing technology.

For his summer project, Justin Paluch began by learning how to measure quantity and quality of DNA with the Nanodrop >instrument. He optimized PCR conditions of third exon of the Tyrosine Hydroxylase gene. He also learned agarose gel electrophoresis conditions. He ran his PCR products on agarose gel electrophoresis and analyzed the PCR product bands. At this time he learned how to store tissues for molecular genetic studies. Justin learned how to search a gene and how to design primers for exons on internet based genome browser USCS. Justin starts his senior year in the Fall at Miami Country Day School.