February Updates From The Chromosome 18 Clinical Research Center

Pictured above left to right: Aamuktha Pentala, Dr. Jonathan Gelfond, Dr. Jannine Cody, Brittany Antopia, and Dr. Kameel Karkar of the Chromosome 18 Clinical Research Center

Updates from the Chromosome 18 Clinical Research Center

• The Trisomy 18 & 13 Collaborative had its first roundtable discussion on 2/4/26. This is a philanthropically funded national collaborative. https://ihdd.org/2025/04/07/educational-research-grants-from-the-trisomy-13-and-18-collaborative/
• Demyelination clinical trial readiness. For preliminary data we are planning to evaluate 5 local participants: MRI, VEP, processing speed & serum MBP levels. The MRIs and blood draws are scheduled for 3/11/2026.
• Congratulations to Dr. John Carey who was awarded the David L. Rimoin Lifetime Achievement Award in Medical Genetics for his work with Trisomy 18 conditions. Dr. Carey is a research collaborator and member of the Scientific Medical Advisory Board.
• Attention San Antonio families - we will be hosting an in-person tour of the Chromosome 18 Clinical Research Center, led by Dr. Cody, on March 19th, 2026 at 11:30am CT. Please reach out to office@chromosome18.org if you would like to register or for more information.

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

Is Gene Therapy the Answer? Part 1

I am often asked why we just don’t try to put back that missing piece of chromosome or remove the extra chromosome. There are a whole host of reasons why this is not technically possible. Even if it were possible, it is not the optimal approach to treatment for the chromosome 18 conditions.

There are no strategies for removing chromosomes or even single genes as a clinical treatment for any condition. But there are strategies for adding genes. The problems regarding doing this, for even just a section of a chromosome, is that it would include many genes. This creates several issues... Click HERE to read the full article.

If you would like to support the groundbreaking research projects underway at the Chromosome 18 Clinical Research Center, just click the button below:

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