March Updates From The Chromosome 18 Clinical Research Center

Pictured above left to right: Aamuktha Pentala, Dr. Jannine Cody, Lori Stinson (Kronkosky), Allan Paterson (Kronkosky), Anna-Melissa Cavazos (Kronkosky), Dr. Jon Gelfond, and Brittany Antopia of the Chromosome 18 Clinical Research Center

Updates from the Chromosome 18 Clinical Research Center

• This month, the Chromosome 18 Registry and the Clinical Research Center were honored to host the Kronkosky Foundation for tour (pictured above). The Kronkosky Foundation is a key community partner in San Antonio who supported the Trisomy 18 study at the Research Center in early 2025.
• UT San Antonio Neurodevelopmental Disorders Consortium is being organized with the Clinical Research Center as a central player. Next month opportunities for collaboration will be presented to the neuroscience basic scientists regarding all the interesting genes and phenotypes, particularly those on 18p
• Is your family planning to come to the Annual Family Conference in San Antonio this summer? We will be doing blood draws at Conference for those who want to enroll in the Clinical Research Center study. If you are interested in enrolling and completing your blood draws at this year's Conference, please reach out to chromosome18@uthscsa.edu as there are steps you will need to complete prior to coming to Conference.

This month, Dr. Cody shares the second part of her article discussing gene therapy in the context of treating chromosome 18 conditions. Please enjoy the article below:

Is Gene Therapy the Answer? Part 2

Last month we discussed the challenges with gene therapy. If gene replacement or gene removal therapy is not a viable approach for new treatments for the chromosome 18 conditions, then what is a viable approach?

In the case of chromosome abnormalities, the most important fact is that it is not necessary to delete a whole extra chromosome or insert a missing chromosome arm. This is because only a few of the many genes in these large multi-gene pieces of chromosome are in actual need of correction. In fact only a very small proportion of the genes cause problems when there are too few or too many copies... Click HERE to read the full article.

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To view Dr. Cody's chromosome 18 basics and FAQ videos, please click the link below:

Do you have questions about anything in this email? Contact the Clinical Research Center for more information at chromosome18@uthscsa.edu