August Updates From The Chromosome 18 Clinical Research Center

Pictured above (left to right): Brittany Antopia, Catherine McCarthy, and Dr. Kameel Karkar with the Clinical Research Center at the 2025 Annual Family Conference in Niagara Falls, Ontario in July.

Updates from the Chromosome 18 Clinical Research Center:

It was wonderful to connect with so many families at the Chromosome 18 Annual Family Conference in July in Niagara Falls, ON! Dr. Cody and Dr. Gelfond provided the research update, while Dr, Karkar offered a lunchtime Q&A. Some of the key numbers from Conference include:

• Total Conference attendees: 410
• Number of new families that attended Conference: 27
• Number of new families enrolling in the Research Study: 5
• Facial Movement Videos Recorded: 4
• "Scratch-n-Sniff" Smell Tests Conducted: 8



We were honored to have Dr. Al-Rabi N. Tawil from the University of Rochester in attendance at the 2025 Chromosome 18 Conference in Niagara Falls, ON. Dr. Tawil is an FSHD2 expert and was able to diagnose one 18p- individual with FSHD2 at Conference. Partnership with other institutions is essential to improving our understanding and treatment of chromosome 18 conditions. We are grateful to Dr. Tawil for taking part in the 2025 Conference and providing his expertise to the families who attended.

If you have any questions about enrolling the research study, 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 chromosome abnormalities and their connections to birth defects. Please enjoy the article below:

Chromosome Abnormalities and Birth Defects

Over the years, I have often talked and written about the fact that chromosome abnormalities are a common occurrence among all conceptions, but most do not result in live births. The latest frequency estimates were shared during last December’s World Chromosome 18 Day presentation and can be viewed on the Chromosome 18 Registry website (https://www.youtube.com/watch?v=alMkEiIc9Oc&t=11s).

In the July 2021 issue of this newsletter, we shared data indicating that the children of people exposed to radiation after the 1986 Ukrainian Chernobyl Nuclear Power Plant meltdown did not have an excess number of DNA mutations compared to the general population. Additionally, there are no data indicating that any other type of environmental exposure can cause a chromosome abnormality. This supports the idea that chromosome abnormalities occur from random mutations during cell division in egg and sperm cells and are not the result of environmental exposures.

It is important to differentiate, however, that chromosome abnormalities can cause birth defects.... 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: