April Updates From The Chromosome 18 Clinical Research Center

Pictured above from left to right: Brittany Antopia (Program Data Manager), Dr. JOn Gelfond (Associate Director), Dr. Jannine Cody (Founding Director), Aamuktha Pentala (Research Associate), Dr. Kameel Karkar (Medical Director), and Catherine McCarthy (Participant Coordinator). You can view the team and their bios here.

Updates from the Chromosome 18 Clinical Research Center:

For families who are planning on attending Conference this summer in Niagara Falls, Ontario, the Clinical Research Center team will be conduting:

•  Smell tests - with a focus on people with 18p-
• 18p- video assessments

**Please note, as the Conference will be held outside the U.S. this year, there will be no blood draws conducted in person.**

If you would like to take part in the testing taking place at Conference 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 the term "chromosome abnormality" and why switching to "genomic disorder" might be a better fit:

What is a chromosome abnormality?

This sounds like a pretty straight forward question that should have a simple single sentence definition. This is the term we so often use when speaking about the chromosome 18 conditions, but it is not really the correct term to use.

Historically, from back when chromosome abnormalities were first discovered to twenty-five years ago, a chromosome abnormality was diagnosed using a light microscope. Even the best microscopic chromosome evaluation (called a karyotype) could only detect a missing piece or a duplicated piece of chromosome if it included at least 5,000,000 base pairs (units) of DNA...

Click HERE to read the full article.

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