Project Mentor

Dr. Stefan Pinter 
Department of Genetics and Genomic Sciences

Undergraduate Research Opportunity Description

Project Description	Our lab studies genetic syndromes that change the expression levels of many genes residing on a single chromosome, for example Down syndrome (DS, trisomy 21) and Turner syndrome (TS, monosomy X). We have established human stem cell (iPSC) lines of these aneuploidies, along with isogenic euploid control lines, to model cellular phenotypes associated with these conditions. To correct the dosage of genes on chromosome X or 21, we use epigenetic (XIST RNA) and RNA-targeting CRISPR tools to study their developmental impact, and map cellular phenotypes back to specific mis-expressed genes. For example, we would like to learn how trisomic genes on chromosome 21 contribute to oxidative stress in DS neurons and astrocytes, and have built a reporter iPSC line to identify which genes would have to be targeted to restore a typical redox balance
Project Direction	In our TS work, we are particularly interested in genes that escape X chromosome inactivation (XCI) and their role in vascular smooth muscle and trophoblast development, because monosomy X is a leading cause of spontaneous termination (est.12-15% of all miscarriages). Our DS work aims at understanding how trisomy 21 impacts neurodevelopment and DS-associated Alzheimer’s disease, which will affect most individuals with DS due to early onset. We anticipate that learning how cellular phenotypes relate to each other and which genes could be targeted to prevent neurodegenerative changes in DS, will pave the way towards the development of novel therapeutic approaches.”
Mentorship and Supervision	We have weekly lab meetings where one of six lab members presents, and I also touch base with each lab member individually every week (twice at minimum). This gives me ample opportunity to monitor progress and connect the student with resources and match them with lab personnel, who can provide hands-on-demonstrations and will mentor the students on a daily basis.
Student Qualifications	The ideal student for this research opportunity will be interested in neurodevelopment, have completed mid-level biology and genetics courses, and acquired: – training in tissue/cell culture – and/or computational expertise (unix, perl, pyhon, C or R).
Summer Schedule Options	Research Dates: May 26 to July 31, 2020 Schedule: M-F, 9am-5pm
Project Continuation	Fall 2020, Spring 2021
Academic Year Time Commitment	9 hours/week
Possible Thesis Project	Yes

Application

Submit an online application for this research opportunity at https://quest.uconn.edu/prog/HRP20-21. The application deadline is Monday, February 3, 2020.

This application requires a cover letter, a resume or CV and a brief statement of research interests.