Step 6: Gene Function Studies

Happy Thanksgiving, everyone! In celebration, I'm finally getting around to posting the next step in our "Path to Treatment" for chromosome 18 conditions.

So far, we've talked about:

Step 1: Literature Review
Step 2: Clinical and Molecular Assessments
Step 3: Syndrome Description
Step 4: Gene Identification
Step 5: Syndrome Management Plan

Even after we have linked specific genes with specific features of the conditions involving chromosome 18, we still don’t necessarily have a good idea of HOW those genes cause medical and developmental problems. For example, we might wonder why it is that missing a specific gene causes severe language delays. Is it because the gene plays a role in how the way the brain develops? Or is it because it causes some problems with the way that the brain communicates with the muscles that control the muscles necessary for speech?

It is at this point that we really start relying on the experiences and knowledge of scientists in other disciplines. Many genes on chromosome 18 already have already had extensive information published in the scientific literature. Scientific papers might give us information about what happens when a single base pair in a gene is changed. Or it might tell us a little bit about the protein product that the gene is responsible for creating. Or perhaps where in the body those proteins are localized.

Unfortunately, there are also many genes on chromosome 18 that have very little information available. In this case, we can turn to an increasingly large variety of technologies that have been developed to understand gene function.

Once we understand how gene deletions and duplications lead to the various health and developmental concerns, we can start working to fix those problems at the molecular level. Basically, we want to find a treatment that can address the underlying changes in the genes and therefore the proteins that they code for.