Spring 2018 Modules

Theory and Practice of Clinical Genomics

Course Description: Theory and practice of diagnostic laboratory methodologies and genomic data analyses for the clinical scientist. Sections are taught in a series of modules and include clinical case scenarios and analyses. With a change of content, this course may be repeated for credit.


Section 3:

Genomics Data in the Clinical Lab: Dr. Cara Statz, Clinical Analyst, Jackson Laboratory for Genomic Medicine

An introduction to bioinformatics for the design and analysis of diagnostic genetic tests. Topics covered include primer design and specificity verification, sequence alignments, interpretation of e-values, and use of various tracks within alignment programs to identify relevant clinical information. Students will search appropriate databases for the identification of gene mutations and/or variations identified during testing and/or associated with a phenotype or disease. Databases examined will include Gene Tests, OMIM, Mitelman, CGAP, PubMed, NCBI, DAVID, UCSC genome browser, RepeatMasker, HapMap, and others as appropriate. Clinical cases will be provided for the application of bioinformatics-associated sciences and technologies to retrieve and analyze biological literature and data. Clinical reporting of case data will be used to develop written communication of scientific information to patients and physicians. Email judy.brown@uconn.edu for course permission #

Section 4:

Chromosome Analysis: Lauren Wilson, MA, CG, MB (ASCP)

The study of chromosomes including chromosome structure, chromosome identification, International System of Human Cytogenetic Nomenclature, and the relationship of chromosome abnormalities to human disease.  This section is self-guided in an online format within HuskyCT. Email lauren.wilson@uconn.edu for course permission #.

Alexion, UConn Announce First Rare Disease Innovation Fund Recipient

New Haven, Conn. – August 29, 2017 – Alexion Pharmaceuticals, Inc. and the University of Connecticut today announced the first award made through the recently launched Alexion-UConn Rare Disease Innovation Fund.

Assistant professor of genetics and genome sciences at UConn Health, Stormy Chamberlain, Ph.D., Key Faculty in the Health Care Genetics PSM Program, received the fund’s first award. Chamberlain will conduct sponsored research related to neuro-genetic disorders.

For more details see the announcement 

Impact of CRISPR on Imprinting Disorders Conference

Impact of CRISPR on Imprinting Disorders Conference:  Saturday, June 10, 2017 .  9:00AM-3:30PM in the Rome Commons Ballroom, University of Connecticut, 626 Gilbert Road Ext, Storrs, CT.  Sponsored by the Institute for Systems Genomics and The Health Care Genetics Professional Science Masters Degree Program. Free, but you must register at http://isg.uconn.edu/workshop-registration/ by May 31, 2017.  For a schedule, please email genetics@uconn.edu

Congratulations Lauren Wainman ’16

Congratulations to Lauren Wainman, August 2016 graduate of the Health Care Genetics Program. Lauren was voted runner up for the Graduate Student Intern of the Year by the University and will be recognized by the Center for Career Development alongside her internship mentor Dr. Gregory Tsongalis at a Breakfast on Wednesday February 1, 2017.  Furthermore, Lauren was nominated by The Center for Career Development (CCD) to represent her internship experience at the 2017 Internship Expo January 30, 2017. The CCD felt that Lauren held an exceptional internship this past year and made a positive impact on the researchers at Dartmouth Hitchcock Medical Center in Lebanon, NH and will be showcased at this event.

Lauren’s primary task at her internship was to conduct biostatistical analysis of diagnostic test and research data collected.  Her analyses indicated specific microRNA expression levels in Chronic Lymphocytic Leukemia (CLL) patients were significant prognostic indicators of when a patient would require medical treatment.

Join the Genomics Revolution

Accepting Applications for Fall 2016 – Exciting opportunities in the ever changing field of clinical genomics.  Visit the Institute for Systems Genomics http://isg.uconn.edu/ for some recent updates at the University.

Classes Start the Last Week of August 2016

Spring Accomplishments!

Sharing some of our students’ accomplishments that have happened this Spring 2016 semester …

  • Jake Z presented an aesthetically pleasing and scientifically interesting research poster at our March College Graduate Research Symposium representing his work in Dr. Elaine Lee’s lab. Thank you for a smart looking poster and being a smart-dressed student representing the PSM Program and the AHS Department.  Thank you Dan and Lauren for attending and giving up some Saturday time.
  • Jen T completed her 3-month internship at Transgenomics, New Haven. Jen’s advisory committee; Dr. Campellone, Denise Anamani and I are looking forward to learning about the exciting science at her exit presentation in April.
  • Jen and Jake finishing up final projects… Congratulations to our first Health Care Genetics PSM (almost) Graduates… one month to go!
  • Mahin and Dan… better late than never to say welcome to an exciting field of study, happy you found us
  • Lauren W – congratulations on your Fall 2016 acceptance to the PhD Program in MCB… best of luck during your research rotation in Dr. Rachel O’Neill’s lab … you have excellent mentorship at the Beach.  I’m certain you will hatch out of your “cocoon” and become a great butterfly centromere researcher in no time.
  • Audrey M – will be starting a genetics education and health promotion internship June 2016 at the prestigious Dartmouth Hitchock Hospital Cotton Cancer Center. Audrey taught clinical genomics data analysis to our undergraduate Diagnostic Genetic and Medical Lab Sciences students this semester – excellent work.
  • Jen K, Lauren, Dan B and Audrey completed our pilot offering of a Next Generation Sequencing Training Module over Spring Break in the Center for Genome Innovation .. exciting data for Dr. Sal Frasca. Thank you Dr. O’Neill, CGI Director, for helping coordinate this opportunity and especially to Dr. Bo Reese for her exceptional technical skills and superb teaching prowess.
  • Thank you Dr. Tsongalis for an exciting research project – Lauren and Dan are working tirelessly to statistically analyze this data set… crossing our fingers for biologically relevant (aka publishable) data
  • Looking forward to finding research rotations, internships and opportunities for Jen, Mahin, Mohammed, and Dan moving forward this summer and the upcoming coming fall-spring 2016-2017 academic year.