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We take a variety of approaches to determine the optimal strategy for helping people with chromosome 18 abnormalities overcome their challenges. The most direct approach is to simply perform clinical evaluations and when that is not possible, collect medical records from participants or ask participants to answer surveys. These records teach us which conditions the study participants have in common as well as what treatments are being used to help them. For some conditions, the treatment is definitive and curative. For others, there are numerous treatment approaches. Determining which approach is helpful is often a trial-and-error process. The trial-and-error journey often means that months or years go by before finding the most effective treatment and getting relief.
This is where our second approach comes in for improving treatments for people with the chromosome 18 conditions. That approach is to learn as much as possible about the genes on chromosome 18. Then we can determine their impact when there are too few or too many copies of that gene. The initial goal of this approach is to learn which gene is the cause of which aspect of a chromosome 18 condition. Once we know that a certain gene is the underlying cause, then the goal becomes to identify a treatment that is specifically directed at that underlying genetic cause. The supposition is that understanding more about the specific gene will help to identify the most effective treatment because it targets the exact underlying cause.
There is new evidence for just such a case in which one specific treatment might work best for someone with a chromosome 18 condition. Most people with 18p- have a deletion that includes the PTPN2 gene. Having only one copy of the PTPN2 gene is a risk factor for developing inflammatory bowel disease (IBD) and several autoimmune conditions. This gene is only one of the risk factors for these conditions because a majority of people with a one copy of this gene do not have IBD. However, it is a condition that develops with age so a young study cohort might skew the prevalence to a lower number. There are multiple drugs on the market that help to treat IBD. A recent report found that one of these IBD drugs works by increasing the activity of the PTPN2 gene. This suggests that this drug might be the most effective way to treat IBD in someone with 18p- who have only one copy of the PTPN2 gene. The FDA-approved drug is tofacitinib (Xeljanz).
To our knowledge, no one with 18p- and IBD is using this therapy, so we have no data about its effectiveness in this population. This emphasizes the importance of the information we get from study participants. It is critically important that participants answer surveys and to generously share those medical records with us when requested. This is how we can work together as a team to help the entire chromosome 18 community. Obviously, trying any treatment needs to be discussed with and directed by each person’s personal healthcare team.
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