The Chromosome 18 Clinical Research Center just celebrated its 25th Anniversary.
The goal of the research center is to make the chromosome 18 conditions the first treatable chromosome abnormalities. The study cohort for these rare conditions includes over 600 participants from 30 different countries. Although housed in the Department of Pediatrics, this is a longitudinal study endeavoring to follow the life and health outcomes of these individuals across their entire lifespan. Studies include defining standards of care, characterizing the genetic underpinnings and devising interventions to improve health and life outcomes. This work includes over a dozen investigators from 5 different departments in the School of Medicine and has resulted in over 50 publications.
Originally considered to be primarily a congenital developmental disorder, we are now appreciating that these individuals are at increased risk for other rare adult onset conditions. Examples include Facioscapulohumeral dystrophy type 2 and Spinocerebellar Ataxia type 28. We are collaborating with the world's experts on these conditions as these teams develop treatment focused research protocols.
As we learn more about the function of the genes involved we are unmasking potential previously unappreciated clinical consequences. For example, data on abnormal blood clot retraction in mice with a deletion of a chromosome 18 gene led to collaboration with Dr. Meyer who studies the mechanisms of abnormal blood clotting. Preliminary data identified poor platelet function in people with deletions of this gene and we suspect intensified clot cohesion in people with duplications of this gene. Additional studies are now funded by a CTSA pilot project grant in preparation for an NIH application to learn if these changes actually lead to clinical complications.
Often unappreciated are the activities required to maintain a relationship with participants over their lifetime. The Chromosome 18 team fields an average of over 50 unsolicited emails and phone calls per month from participants, families and their healthcare providers in search of additional information. In addition, each month we contribute a brief medical/scientific informational article to the email newsletter from the Chromosome 18 Registry and Research Society. We create an annual research update talk which is presented at the annual family conference of the Registry and then record the presentation for posting on their website. The Chromosome 18 Clinical Research Center creates an annual Newsletter for participants and an Annual Report that is distributed to participants and to the membership of the Chromosome 18 Registry. In addition, at least 4 investigators and 4 staff members attend the Annual Family conference proving formal presentations and informal discussions.
As the only center of its kind in the world, we are actively working to establish centers of excellence for chromosome 18 care in other countries. This will ensure that families receive knowledgeable care in their native language and within their own healthcare system. We are working with groups in England, Italy, Poland, France, The Netherlands and Australia to establish these centers.
