November Updates From The Chromosome 18 Clinical Research Center

Pictured above left to right: Aamuktha Pentala, Brittany Antopia, Dr. Jannine Cody, and David Garza

Updates from the Chromosome 18 Clinical Research Center:


  • In October, The Registry gave the Clinical Research Center a donation of $44,500 to support essential chromosome 18 research.
  • Dr. Karkar will present poster at Am. Epilepsy Soc. conference in December in Atlanta, Georgia. The AES conference typically features over 1,500 poster presentations and we are honored that Dr. Karkar will be part of this amazing event.
  • UT San Antonio Brian Health Consortium is a merged campus effort with an emphasis on neurodevelopmental disorders. The Clinical Research Center have been asked to participate with a plan to write collaborative grants with the Consortium to fund new research efforts.



This month, Dr. Cody shares her article about the unique station that Clinical Research Center holds in the world of genetic research and discusses the projects currently underway and on the horizon. Please enjoy the article below.

We are Number 1!

The Chromosome 18 Clinical Research Center is the only center in the world dedicated to improving the lives of people with chromosome 18 conditions. Why is it so unique? It is not just because the chromosome 18 conditions are ultra-rare. Many rare conditions have several research groups around the world with expertise on their chosen rare condition. The reason we are distinct as a center is primarily because the chromosome 18 conditions are uniquely complex. Unlike most rare conditions that are caused by single genes, the chromosome 18 conditions are caused by many genes all at once. For example, the short arm of chromosome 18 includes 67 genes which means that someone with a deletion of the whole short arm (18p-) or a duplication of the whole short arm, (18p+ or Tetrasomy 18p) potentially have 67 genetic causes all at once. That’s complicated... 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

Chromosome 18 Registry & Research Society | 210.657.4968
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