Friday, September 16, 2016

Student Work Positions: Clinical Study Coordinator

My student employment position is clinical study coordinator in the laboratory of Dr. Zsolt Urban in the Department of Human Genetics.  Dr. Urban’s lab investigates the genetic basis of a rare connective tissue disorder called cutis laxa, and I am responsible for the clinical branch of the research program.  This work has given me incredible experience in conducting human subjects research, managing a clinical study, and providing support to families affected by genetic conditions.  This job has too many facets to fit in a single blog post, but I hope to touch on some of the most important.

Cutis laxa (CL) disrupts the normal formation of the extracellular matrix, which is the cellular scaffolding for connective tissue.  Connective tissue is a crucial component of every bodily system.  In CL, the skin is the most visible organ affected, and many people with the condition have a wrinkled or prematurely aged appearance.  This can have significant psychosocial consequences for patients.  But in addition, because connective tissue is a crucial component of every body system, cutis laxa can cause neurological, musculoskeletal, genitourinary pulmonary, and cardiovascular problems.  These problems can be present from birth or can develop over time, and some have the potential to be life-threatening.  Mutations in over ten genes have been found to cause CL, each associated with a different subtype of CL.  Each subtype is characterized by its own particular combination of symptoms and severity, although there can be significant overlap between subtypes.

Research in Dr. Urban’s lab is focused on identifying the mechanisms by which mutations in cutis laxa-causing genes produce specific symptoms.  As cutis laxa study coordinator, I collect and compile clinical data from individuals who have agreed to participate in our research studies.  This data guides future research projects and complements the molecular research taking place in the lab.  Thanks to the participation of our study families, we are constantly adding to a database of patient information that allows us to investigate the relationship between particular gene changes and features of the different subtypes of cutis laxa.  My thesis work will investigate one aspect of the features associated with ATP6V0A2, one of the known cutis laxa genes.  

Another important aspect of my work is communication and education.  I have had the opportunity to speak on cutis laxa at local and international patient events.  I monitor the patient support group Facebook page and search our data and the literature to answer questions ranging from whether particular symptoms are associated with CL, to how many patients are known to have a particular subtype.   I maintain the lab website, which is, for many patients, a first stop in their search for information on the condition.  I regularly speak withindividuals and parents of children who have been diagnosed with cutis laxa, and provide them with resources and information.

One of the most important aspects of my job is coordinating a semi-annual cutis laxa research clinic.  This clinic, which is attended by families from around the world, is an experience unlike any other.  It involves two days of intensive clinical and research testing, as well as an information day with talks given by clinical specialists, researchers, and study team members.  Attendees have told me that the clinic is a life-changing event.  For many, it represents the first time in their lives that they have met others who share similar experiences.   In addition, the clinic brings relief to many by connecting them with expertise and information about the condition.  Because cutis laxa is so rare, most health care providers will never have the opportunity to gain experience in diagnosing or caring for a person with the condition.  As a result, affected individuals and families can feel fear and helplessness in the face of the unknown, in addition to the isolation and stresses inherent in the search for a diagnosis.  Despite the lack of a cure for CL, a connection to knowledge has both practical and emotional value.

The cutis laxa research clinic, as well as my day to day work, has allowed me to interact and learn from inspiring families and individuals.  I have met parents of children with cutis laxa who set the example of unfailing positivity and love in the face of health challenges.  I have met adults who travel to Pittsburgh and participate in the clinic with no other motive than to promote progress in understanding and treating the condition, so that future patients might benefit.   It is truly a privilege for me to be able to play a role in bringing the amazing individuals and families in the cutis laxa community together with Dr. Urban, our research team, and each other.

- Michelle Morrow, Class of 2017

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