Time for an Update

“What is going on in your field of genetics research?”

“Are you making any progress?”

“Can you give me some specific examples and talking points when I am asked these questions by others?”

These were questions I received from an individual involved with the Disabilities and Special Needs Board from outside our area and served to remind me that periodically we need to provide updates to let you know of our work and results at the GGC. As one of our clinicians stated, we say and believe that progress is being made, not as quickly as we would like, but it is happening. Let me give you a few examples as an update:

1) Technology has allowed genetic testing to improve and expand. Today the lab is able to examine chromosomes in much greater detail than 8-10 years ago. A test which analyzes the ends of chromosomes, called subtelomere testing, can reveal deletions and duplications that were undetectable before this technology. These deletions and duplications are believed to be the cause or explanation for many previously undiagnosed cases of developmental delay, providing answers to parents who were told previously that the cause was unknown.

2) A very new genetic test called microarray analysis allows our laboratory staff to visualize the level of gene expression or function. Microarray analysis will serve to increase our understanding of molecular mechanisms, hopefully leading to more effective disease treatment.

3) At the GGC, researchers are continuing to identify new genes involved in mental retardation. GGC research has also identified transporter defects; one that inhibits creatine uptake and another which prevents thyroid hormone from reaching the brain cells. These anomalies are known to be the cause for certain cases of mental retardation,

4) In May 2006, The Greenville News announced that the GGC is 1 of 50 sites in the United States and abroad selected to participate in The Rare Diseases Clinical Research Network. Within this Network, the GGC is studying Angelman, Rett, and Prader-Willi syndromes, a group of neurological disorders characterized by developmental delay and other symptoms. As part of this study, the GGC will participate in the Angelman Therapeutic Treatment Trial to determine if the symptoms of Angelman improve with the use of certain vitamins and supplements.

5) Within a few years it is anticipated that a new focus will emerge on the GGC campus. The South Carolina Center for the Treatment of Genetic Disorders will be our newest addition designed to provide both established and emerging therapies for previously untreatable conditions.

So, you see we are indeed making progress. The Center’s research is on-going and we are gaining significant insights into genetic disorders with the goal of providing diagnoses and treatments for individuals and families.