In genetics, we often say that we deal in rare. This is especially true in my work position in Dr. Zsolt Urban’s laboratory in the Department of Human Genetics. I have the unique opportunity to work alongside Dr. Urban and the other hardworking members of the lab as a clinical study coordinator. The Urban lab studies a rare connective tissue disorder called cutis laxa, a condition characterized by loose, lax skin that can also affect many different body systems. The effects of cutis laxa on the body are widespread because it causes changes in the extracellular matrix, a structural component of the connective tissue. Connective tissue is found throughout the entire body and can be thought of as the glue that holds our bodies together.
Over time, pathogenic variants in over ten genes have been found to disrupt the extracellular matrix and cause cutis laxa. While changes in these different genes can cause a similar condition, pathogenic variants in the different genes can present with unique clinical features, warranting the delineation of cutis laxa into gene-based subtypes. Our study participants are truly the driving force behind our growing knowledge of the similarities and differences among the different subtypes of cutis laxa . As the study coordinator, contacting our participants, consenting them to our study, and gathering their clinical information is an essential part of my job. This is an important step in establishing a natural history of the different types of cutis laxa. By providing clinical information, participants from all over the world are contributing to our insight on the clinical course of cutis laxa. This information is invaluable to individuals and families faced with a rare disease diagnosis who every day deal with the unknown. This information also helps direct future research and hopefully better diagnostic tools and treatments.
Taking family histories and coordinating sample collection for genetic studies from our participants are other important aspects of my position. While molecular analysis determines the subtype of cutis laxa within an individual or family, when it is combined with detailed family histories, it allows us to determine the inheritance pattern of cutis laxa in families. Autosomal dominant, autosomal recessive, and X-linked forms of inheritance have all been observed in families with cutis laxa. Knowing how cutis laxa is inherited within a specific family allows us to determine at-risk family members for testing as well as recurrence risk for couples.
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This position exemplifies the merits of rare disease research, an area that has fortunately been able to grow rapidly with advances in genetic knowledge and technology, as well as through the support of institutions like the National Organization for Rare Disorders (NORD)* and the National Institute of Health, which has programs like The Genetic and Rare Diseases Information Center (GARD). This position has also allowed me to glimpse into the lives of families facing the challenges of rare disease every day. The opportunity to witness their strength, resilience, hope, and grace has been the greatest privilege of this position. Our study participants have taken on tremendous advocacy roles throughout their lifetimes and are truly inspirational.
|-- Emily Spoth, Class of 2018|
*NORD was originally formed as a coalition of parents of children with rare conditions and has grown to include over 250 patient organization members. One of these members is Cutis Laxa Internationale, centered around cutis laxa! Every year, NORD sponsors Rare Disease Day. The next Rare Disease Day is February 28, 2018! You can learn more at their website: www.rarediseaseday.org