Friday, December 16, 2016

Reflections on Our First Semester

As the class of 2018 approaches the end of their first semester, they offer the following reflections on their first semester in the Genetic Counseling Program.



"This whole semester has been a whirlwind of learning and engagement opportunities that will strengthen my future practice as a genetic counselor. I really enjoyed a bereavement training we attended in October, because it made me think about the impact genetic conditions have in a family’s life and how important it is to educate them on all of the medical decisions they can make in a given situation." - Meg H.

"I had the opportunity to help give a presentation to college students introducing them to the field of genetic counseling. I enjoyed the teaching experience and was glad I could help increase knowledge about genetics, as it is such an important public health goal." - Claire L.

"I really enjoyed the opportunity to speak to potential students at open house a few weeks ago. It was great to speak about the Genetic Counseling Program and the field with interested, engaged individuals. There was the added bonus of reminding me of how far I’ve come in just a year!" - Emily S.

"I have really appreciated the patient and family interactions I have had exposure to through both our genetic counseling class as well as my student job. Hearing from those with genetic conditions (and their family members) gives us a great perspective we would miss out on if we only studied the science behind the condition. I am continually amazed by the lengths to which parents go in order to help their children to thrive with genetic conditions. Keeping the patient perspective in mind has helped me stay focused on why we do what we do. " - Jenni P.



"Volunteering to care for some wonderful kids with muscular dystrophy while their parents attended a meeting about developments in research and advocacy was my favorite part of the semester. The three amazing, hilarious, and energetic boys kept us entertained for hours, and it gave me extra understanding that the diagnoses, research, and testing we and other healthcare professionals deal with are about so much more than words and statistics. All of my volunteering experiences through the years, particularly this one, have reminded me of the personal effects of work in science, and given behind-the-scenes look at families affected by healthcare and genetics work. That experience truly enriched my learning and will affect my relationships with families and clients forever." - Kaitlin S.

"I really enjoyed getting a chance to speak with potential applicants about the Genetic Counseling Program during the open house and to patients and their families during classes. These experiences reminded me how excited and appreciative I am to be here, as I tend to focus on the details of the process instead of the big picture of becoming a genetic counselor." - Julia V.

"Having the opportunity for physicians, genetic counselors, and families to come and speak during our classes and share their opinions and experiences related to genetic counseling was a fantastic experience. I feel as though I have gained a better understanding of their perspectives and concerns and have become more comfortable interacting with patients and other members of the healthcare staff." - Joya P.

"If I had to describe this semester in one word, I would call it surreal. Thinking back over the last few months, it is amazing to me how much we as a class have learned, experienced, and grown. I particularly appreciated how, throughout the semester, we got to interact with a variety of patient advocates and clients. Hearing their individual stories and their perspectives on the field was immensely inspiring, and it was a great reminder of why I wanted to be a genetic counselor in the first place. Through my new student work position, I have also met and collaborated with multiple individuals in the Duchenne Muscular Dystrophy (DMD) community, which I have found incredibly rewarding." - Julia S.



"Beginning this semester at PITT was a bit surreal, the materialization of years of education and planning finally come to fruition.  As the semester progressed I found myself immersed in the environment I had been so excited to become a part of.  Lectures from leaders in the field of genetics and families with personal stories of struggle and success littered the courses.  Cutting edge research techniques were discussed as elevator chatter.  Finally, I was home." - Seth L.

"I cannot describe how much I have learned this semester. Let me tell you that graduate school really is as hard as everyone tells you it is, but that the payoff is worth all of the effort. Here at Pitt we’re constantly being provided with opportunities to grow both as individuals and as future genetic counselors.

One of my favorite learning experiences this semester were our panel discussions. One of the panels was held as a part of our Friday Seminar Series and the other was held during one of our Principles of Genetic Counseling classes. The first panel was focused on Huntington’s disease (HD) and included both families and individuals affected by HD and two social workers who work at the Western PA Chapter of the Huntington’s Disease Society of America. The stories they told were truly gripping and I imagine they will stay with me throughout my career. The second panel discussed Down syndrome, and included families who had a child with Down syndrome. They described what it was like for them as a parent and the experiences of their families.

One thing we may temporarily forget during our studies, in the midst of learning the Krebbs cycle for the umpteenth time, is who we are doing this for. These panels were a reminder of why we are training to be a part of this field. Learning the clinical symptoms of various genetic conditions and hearing first-hand how individuals and their families live with these conditions are both extremely important things to keep in mind. We need to have a strong knowledge base but, more importantly, we need to empathize and try to learn as much as we can from people who have been touched by these conditions, so that we can advocate for them and provide the best counseling we are capable of." - Emily M.

"I feel as though the teaching style used in all of my classes this semester has helped me to further develop my critical thinking skills. They all provided cutting-edge information from the field of genetics and focused on how this information can be applied in a real world clinical or research setting and therefore made me feel as though I was taking the first foundational steps into transitioning from a student into a health care professional. I also enjoyed the opportunity that I had to speak with undergraduates at the university about the genetic counseling profession. This opportunity allowed me to voice my passions about why the field is important and to hopefully encourage more people to pursue a career in genetic counseling." - Jackie A.


Friday, December 2, 2016

Student Research: Center for Craniofacial and Dental Genetics


I am a graduate student researcher at the Center for Craniofacial and Dental Genetics, which is housed in the School of Dental Medicine at Pitt. The main goal at CCDG is to identify genetic modifiers for complex craniofacial and dental disorders in humans. I am fortunate enough to work with Dr. Seth Weinberg on trying to identify genetic factors that contribute to certain facial features. Changes in facial features related to the distance between the eyes, for example, are seen in a number of genetic disorders. We are attempting to identify common genetic variants that may contribute to eye-spacing in an unaffected control group called 3D Facial Norms. The 3D Facial Norms Database was created to provide a high-quality control group focusing on craniofacial anthropometry, or facial measurements.


Earlier in 2016, the team at CCDG published a paper about the results of their genome-wide association study on the 3D Facial Norms Repository. This study showed that multiple genome-wide significant loci found in genes related to craniofacial development contribute to normal human facial features. One of the facial features found to be involved is inter-canthal distance, or the distance between the eyes. This research led to my thesis project. I selected forty candidate genes that are thought to be involved in craniofacial development and conducting an analysis to determine if inter-canthal distance (distance between the inside of the eyes) or outer-canthal distance (distance between the outside of the eyes) is associated with the selected genes.

An example pedigree

Besides my thesis work, I am also involved in two major projects within CCDG. I, along with another second year genetic counseling student, am working to review pedigrees from research participants, which involves over 5,000 families, and identify potential Mendelian patterns of inheritance of cleft lip and palate. We are in charge of classifying each family as autosomal dominant, recessive, X-linked, reduced penetrance, etc. This has been helpful for our future roles as clinical genetic counselors because it has sharpened our pedigree analysis skills.

The other project is the Syndromes Project. When we have a participant in our orofacial clinic study, an extensive demographic, medical, developmental and dental history is taken. We are trying to identify individuals with medical conditions suggestive of a genetic syndrome based on the answers they provided in the above history forms. Since CCDG is ascertaining individuals who have isolated cleft lip and palate (not a part of a genetic syndrome) it is important that it also identify the families that may, in fact, have a genetic syndrome in these two projects.

I think that working at CCDG has helped me gain a new appreciation for the research process as a whole and I am very grateful for having the opportunity to work with a great team of scientists every day!

- Samantha Wesoly, Class of 2017