June Updates From The Chromosome 18 Clinical Research Center

Pictured above: The Clinical Research Center team plus Dr. Cody's grandson, Clark.

Updates from the Chromosome 18 Clinical Research Center:

This month, the Chromosome 18 Registry provided an $89,000 donation to the Clinical Research Center!

Some of the sessions from the experts at the Clinical Research Center that you can look forward to at Conference this summer:

• Dr. Karkar: How common are seizures for each of the chromosome 18 conditions with regard to types, age of onset, medication success and failure?
• Highlights from the last year of learning more about the chromosome 18 conditions.
• Q&A with Dr. Hale
• Q&A with Dr. Karkar

If you would like to take part in the testing taking place at the 2025 Conference in Niagara Falls, or have any questions, please reach out to Catherine McCarthy, the Participant Coordinator for the Clinical Research Center at mccarthyc@uthscsa.edu

This month, Dr. Cody shares an article discussing a new tool developed by the Clinical Research Center called the Clinical Gene Dosage Map:

A New Tool for Investigating Chromosome 18

One aspect of what we do at the Chromosome 18 Clinical Research Center is to investigate and determine which genes cause consequences when all or part of the chromosome is deleted or duplicated.

Remember, a deletion changes the number of copies of the genes in the deleted region from 2 to 1. While a duplication changes the number of copies of each gene in the duplicated region from 2 to 3 for Trisomy 18, and from 2 to 4 for Tetrasomy. We call these changes in gene copy number “gene dosage” changes.

To learn about the effects of abnormal gene dosage.... Click HERE to read the full article.

If you would like to support the Clinical Gene Dosage Map and the other groundbreak research projects underway at the Chromosome 18 Clinical Research Center, just click the button below to show your support

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