Dealing in the Rare: Cutis Laxa

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.

 

A representation of the extracellular matrix.

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.

The Rare Disease Day logo.

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

Leadership Seminar: Laura Hercher Edition

The University of Pittsburgh Genetic Counseling Program annual Leadership Seminar invites a leader in the genetic counseling field to come speak to current students and local counselors each year. The speaker is chosen by the students, and the class of 2018 invited Laura Hercher - writer, ethicist, Tweeter - as the third speaker in the series. It was quite a memorable experience. See what current students had to say about the experience. If you are interested in viewing any of the talks from the seminar series, you can find them on the program’s homepage.

This year's speaker was Laura Hercher.

I was both very excited to listen to Laura speak and to have the opportunity to introduce her before the lecture began. She is not only entertaining, but very insightful. I think her underlying message of conscientious action within the ever-growing field of genetics and genomics speaks volumes to me and pushes me to become a professional that advocates for their clients and keeps public health in mind. She also inspired me to find more of my own voice when it relates to genetics issues. - Meg Hager

Visiting with Laura at breakfast before her talk was inspiring.  I found her perspective on genetics, and on life in general, refreshing.  She spoke openly about her opinions on controversial subjects like gene editing and DTC testing.  Her honesty was matched only by her wit, and somehow she managed to be entertaining at the same time.  It was a great experience, and I hope to have more interactions with her in the future, and use her inspiration to help me find my own path. - Seth Lascurain

As a genetic counseling student, I found the depth and expanse of her knowledge on emerging technology and innovations in genetics awe-inspiring. She truly is a lifelong learner! It was inspiring and reassuring to hear such an established genetic counselor explain that in spite of her years of counseling and research experience there is still so much for her to learn especially as new technologies emerge. Our education as genetic counselors does not stop at graduation. - Joya Petersen

It was such a privilege to meet with Laura before her talk and hear her thoughts on the role genetic counselors can play in shaping public policy. As a first year student just starting to find my professional voice, I was inspired by her ability to balance compassion with conviction when weighing in on such charged topics as gene editing. I especially enjoyed the talk she later gave on “Hot Topics” in genetics: I can’t wait for it to spark meaty discussions with my friends and family, who will definitely be getting the link to watch! - Caitlin Russell

This year’s leadership seminar was an outstanding event.  Speaking with Laura during the breakfast session allowed her to provide us with great insight into the issues that are important to us.  Then in the afternoon, her seminar presentation showed us which issues she felt were most important.  Personally, the seminar made me aware of issues I had not been aware of before.  Her engaging personality created a comfortable environment where discussion and questions were not only welcomed, but encouraged.  Laura is truly a leader in the field who plays many roles; writer, podcaster, ethicist, student research coordinator, and author.  Her passion and dedication to the field is inspiring. – Meghan Cunningham

Direct-to-consumer testing was one of the topics Laura covered
during her talk. [DepositPhotos/ Julia_Tim]

Laura was a striking presence. She gave me the impression that she is not afraid to take a stance; listening to her talk about some of the important controversies genetic counselors have had a hand in settling during her career, made me think about what my career as a genetic counselor may entail. I felt inspired to imagine how I could embody roles outside of strictly patient care, as a patient advocate, concerned public health professional, and even legislative advisor, in the future of this rapidly-expanding field. – Charlotte Skinner

As a first-year genetic counseling student, having the opportunity to meet with Laura and hear her speak was an invaluable experience. At breakfast, she was open and passionate about ethical issues and challenges she sees for genetic counselors. As she spoke, it became apparent to me how important it is to find your own voice and to not be afraid to use it. Laura had great advice about the different avenues she has utilized to share hers and how to get involved in these crucial conversations ourselves. I know the inspiration Laura left me with will follow me well into the future. - Alyssa Azevedo

Laura was incredibly generous with the stories and wisdom that she shared with students at her breakfast visit, and she provided us with valuable information on how the field is growing and evolving during her seminar. After she discussed eye-opening advancements in genetic technologies and genomic medicine, I realized that the sky's the limit for the genetic counseling field. In addition to her passion and enthusiasm, I will also take away all the resources she provided during her time with us, from websites to blogs to podcasts for genetic counselors. Laura inspired me to forge my own path as a genetic counselor, and I look forward to being a lifelong learner and leader just like her. - Rebecca Clark

Laura Hercher speaking at the seminar series.

Having the opportunity to meet with Laura before the lecture and listen to her talk about her experiences and achievements was such a great experience. She answered controversial questions with ease and was personable in telling us stories based on some of her experiences. Laura is a captivating public speaker, and it was so interesting to hear about her thoughts on headline genetic stories from this year, and the impact those stories will have on genetic counseling in the future. It was such a great experience and her passion for the field of genetics and genetic counseling was contagious. - Rachel Sutton

Laura is a forward thinker of the genetic counseling field, and being able to speak with her and hear her perspective was absolutely fantastic. Being a first year student, her insight will shape the way I think going forward in the field. She inspired everyone to think critically, to be a lifelong learner, to utilize nontraditional avenues, and to address challenges head on. – Megan Hoenig

It’s always inspiring to hear from leaders in our field, especially one as passionate and articulate as Laura Hercher. She is a fascinating speaker who commands attention with her strong stances on important issues. The opportunities to meet more informally as well as witness her lecture were extremely motivating experiences that will continue to influence me as I move forward in my training as a genetic counselor. - Emily Spoth

I really enjoyed learning about the variety of things that one can do with their genetic counseling degree, and how we can utilize different avenues to advocate for our patients.  I was, personally, really excited to see Laura speak as I've been an avid follower of the DNA exchange and listener of Mendel's pod.  For students who are coming back to school to pursue genetic counseling, especially those of us who didn't start off in the sciences, seeing how much Laura has been able to take from her previous work and make it applicable to genetic counseling was really great. - Natasha Robin Berman

I am thrilled and incredibly grateful that Laura Hercher accepted our invitation to speak to our program. Our discussion over breakfast was quite stimulating, and her presentation on the top 5 genetics stories of 2017 (so far) was both entertaining and thought-provoking. I am personally interested in the ethical issues surrounding prenatal and preconception genetic counseling, so I found her opinions and perspective surrounding ethics, access, and possibilities of prenatal genetic testing particularly intriguing. - Julia Stone