Tess Research Foundation
Matched Genetic Counseling Student:
Caroline Mayk is a first-year student at the University of Pennsylvania’s Genetic Counseling program. She graduated from Bucknell University in May of 2022 with a B.S. in neuroscience and a children’s studies minor. Since arriving at Penn, Caroline rotated with Penn’s Center for Inherited Cardiovascular Disease and interned with the TESS Research Foundation. In her free time, Caroline enjoys spending time with her family, listening to podcasts, and cheering on Philadelphia sports teams.
Student Initiatives:
While interning with the TESS Research Foundation for SLC13A5 Epilepsy, Caroline developed an updated figure reflecting the most recent information about the SLC13A5 Epilepsy cases in their database. This figure will be informative for family members to understand the genetic underpinnings of the disease, as well as helpful for the broader epilepsy research community.
Project:
Caroline created a figure illustrating the protein product for the SLC13A5 gene, which is the NaCT protein. This figure is an updated version of the previously published graphic and will reflect the increased number of variants known to be associated with SLC13A5 Epilepsy. This new graphic is important because it illustrates the broad spectrum of variants that affect the NaCT protein.
Matched Genetic Counseling Student:
Sam Levy is originally from Mechanicsburg, Pennsylvania, and graduated from the University of Pittsburgh in 2021, where he majored in molecular biology and minored in chemistry and Mediterranean art and archaeology. At Pitt, Sam enjoyed his experiences as an undergraduate teaching assistant and research intern. After graduating, Sam began working as a genetic counseling assistant at the Children’s Hospital of Philadelphia. For his thesis, Sam is studying patients' decision making regarding the inclusion of the gene CDH1 on cancer panel genetic testing.
Student Initiatives:
Through Jumpstart, Sam completed an internship with the TESS Research Foundation. The TESS Research Foundation serves to raise awareness, funding, and promote research for SLC13A5 Epilepsy. While at TESS, Sam wrote 2 blog posts that will be published as part of TESS' 'Science Simplified' series, which aims to explain scientific concepts related to SLC13A5 Epilepsy in a way that is accessible to people with limited scientific background.
Proposed TESS projects:
Developing materials about how to read a genetic report; Develop information to explain genetic resources such as ClinVar and GnomAD; Walking through an example of a genetic report with the most common SLC13A5 variant; Use research tools to share where SLC13A5 variants are found in the SLC13A5 gene and NaCT protein; Updating list of all SLC13A5 variants using registry information
Matched Genetic Counseling Student:
Baergen Schultz is a first-year student at the University of Pennsylvania’s Genetic Counseling program.
Student Initiatives:
While interning with the TESS Research Foundation for SLC13A5 Epilepsy, Baergen wrote two articles, under the “Science Simplified” category. She wrote about “What is Genetic Counseling” and “All About Genetic Sequencing”. You can find these articles below:
TESS projects: