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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.
This contrasts with the conditions that have garnered significant scientific attention and funding support. Those conditions have either been single gene disorders, many of which are rare, or they have been polygenic (caused by more than 1 gene) and are common disorders such as diabetes or Down syndrome. Most other chromosomal conditions do not fit into either category because they are rare, but they are not single gene disorders. And they are polygenic, but they are not common. That puts the chromosome 18 conditions between a rock and a hard place being both rare and polygenic.
Conditions that are both rare and polygenic are therefore difficult to entice scientists to dedicate time to and funders to support. Actually, that sentence was in reverse order of importance. If there is potential funding, scientists will step up with ideas and proposals. If there is not a dedicated funding opportunity, scientists would still need a very specific narrow mechanistic question that they can pursue to conclusion in 2 to 5 years if they hope to have a chance of funding, principally the National Institutes of Health. A single narrow mechanistic question is difficult to identify among the multitude of genes and the numerous resulting characteristics. Contrary to popular belief, universities themselves don’t fund most research. Rather, universities host the infrastructure for research teams so that those teams can obtain outside funding. Without funding from outside a university the research can’t happen. All this is to provide context for why there is only one Chromosome 18 Clinical Research Center.
Given these challenges, the members of the Chromosome 18 Registry have stepped up to provide funding that allows the Chromosome 18 Clinical Research Center to exist and has been doing so since 1997. Information from over 750 families from around the globe are collected at the single center to maximize the ability to draw conclusions about people with these ultra-rare conditions. These families are committed to helping their loved one and also share a vision of community knowing that their participation will benefit the babies yet to be born. They are partnering with the research center staff to be part of the solution.
Numerous projects are always underway, and, in the planning, all aimed at improving life for people with the chromosome 18 conditions. These projects are directed by three doctoral level faculty members and numerous collaborators at UT San Antonio and at other institutions in the US and Europe. Projects such as investigating the effectiveness of treatments for the tetrasomy 18p bone issues, early identification of adult-onset conditions in 18p-, potential treatments for improving myelin in 18q-, just to name a few. The end product of all projects is new information in the Physician Management Guides for each condition. This is information families can take to their doctors to help their own medical team provide the best and most informed care.
The Management Guides are available for 18p-, Tetrasomy 18p, 18p+, 18q- and Ring 18. The complete guides are available free of charge, no signing in or creating a password, at: https://wp.uthscsa.edu/chromosome-18/resources/clinical-management-guides/. Be sure to download the PDF to get the complete guide of your choice.
The ultimate goal is to help people with the chromosome 18 conditions lead healthy and independent lives.
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