Reflection on the Leadership Seminar with Aishwarya Arjunan

Each year, the Pitt genetic counseling students invite a leader in the genetics field to speak with current students and give a seminar that addresses leadership for the department. This year, the class of 2021 invited Aishwarya Arjunan, MS, MPH, CGC, CPH. Aishwarya graduated from the University of Pittsburgh’s Graduate School of Public Health with a dual degree in Public Health and Genetic Counseling, as well as a certificate of Global Health. After graduating, she practiced as a clinical genetic counselor in Chicago for 2 years at the Ann and Robert H. Lurie Children’s Hospital and the Center for Jewish Genetics. Aishwarya has since then transitioned into industry, now serving as a Senior Clinical Product Manager for carrier screening with Myriad Genetics. She is a tireless advocate for medical and patient communities, constantly voicing the inequities of race-based medicine and the importance of expanded carrier screening in reducing healthcare disparities. In her talk, Aishwarya shared her experiences as a minority genetic counselor and her thoughts regarding where the field of genetic counseling stands today. In this blog, some of our student’s share their thoughts after Aishwarya’s presentation.

 

To view Aishwarya’s presentation, please visit: https://pitt.hosted.panopto.com/Panopto/Pages/Viewer.aspx?id=0671db55-98c4-4a2f-ba43-acbf0139df07

 

I really enjoyed Aishwarya’s presentation! It was clear from her talk that we have come a long way as a field in terms of providing opportunities for inclusion for individuals with a minority background, however we still have a long way to go. It was really interesting hearing Aishwarya’s own story of how she became so involved in the field and now acts as an advocate for change and inclusion. I truly appreciate that Aishwarya took the time to give a presentation to the Human Genetics department and then meet with the GC students afterward.

Michael Gosky, Class of 2021

 

I met Aishwarya during our virtual rotation with Myriad Women’s Health over the summer, and her knowledge and passion for her work was inspiring. I was so happy that she was able to speak at our Leadership Seminar and talk about her experiences. The utility of expanded carrier screening was a hot topic at NSGC this past year, so I was grateful to hear her perspective on it, both as a minority genetic counselor and as a product manager at Myriad. She is an excellent role model and mentor!

Megan Czekalski, Class of 2021

 

I appreciated Aishwarya taking the time to meet with us! It was a timely reminder of how many opportunities we have as genetics professionals to make healthcare more equitable. I also was grateful that she discussed provider burnout and how to make sure we don’t overextend ourselves.

Chelsey Walsh, Class of 2021

Podcasts and Movies and Books, Oh My!

Our students are always looking for creative ways to stay engaged with the field of genetics, especially now, when in-person learning opportunities are difficult to find. Luckily, there are many wonderful podcasts, movies, books, and webinars to keep us entertained and help us learn. Below is a list of genetics-related resources recommended by our second-year students. These resources are great for prospective students and anyone interested in genetics and genetic counseling.

 

Genetics-Related Podcasts 

Patient Stories with Grey Genetics – “a genetic counselor who works in telegenetics interviews patients about their experiences. This is a great podcast for gaining prospective on the patient experience.” -2^nd year student

 

DNA Today: A Genetics Podcast – “a genetic counseling graduate student interviews GCs, researchers, patient advocates, and genetics professors. Our very own Pitt GC alumna, Lauren Winter, was featured on episode #113!” -2^nd year student

 

Base Pairs – “a genetics podcast run by science journalists out of Cold Spring Harbor Laboratory. Their audience base is broader than just GCs, so they do not only talk about clinical issues. They have some really great (and approachable) episodes, including a two-part series on “The Dark Matter of the Genome.” This is possibly my favorite genetics podcast. Tragically, they have not posted an episode since December 2018.” -2^nd year student

 

Science Friday – “I have not personally listened to this one (yet), but a friend who works in a research lab highly recommended it. They do not specifically focus on genetics, but do have episodes about genetics topics.” -2^nd year student

 

Movie Recommendations

The Fundamentals of Caring (available on Netflix) - A writer (Paul Rudd) retires after a personal tragedy and becomes a disabled teen's caregiver. When the two embark on an impromptu road trip, their ability to cope is tested as they start to understand the importance of hope and friendship.

 

GATTACA (available on Hulu) - Vincent Freeman (Ethan Hawke) has always fantasized about traveling into outer space, but is grounded by his status as a genetically inferior "in-valid." He decides to fight his fate by purchasing the genes of Jerome Morrow (Jude Law), a laboratory-engineered "valid." He assumes Jerome's DNA identity and joins the Gattaca space program, where he falls in love with Irene (Uma Thurman). An investigation into the death of a Gattaca officer (Gore Vidal) complicates Vincent's plans.

 

 

Crip Camp: A Disability Revolution (available on Netflix) - Down the road from Woodstock, a revolution blossomed at a ramshackle summer camp for teenagers with disabilities, transforming their lives and igniting a landmark movement.

 

Lorenzo’s Oil (available on Youtube) - About a little boy with a genetic condition, and his parents’ quest to find an answer and a treatment for him.

 

Simon Birch (available on Prime Video) - Simon Birch (Ian Michael Smith) and Joe Wenteworth (Joseph Mazzello) are boys who have a reputation for being oddballs. Joe never knew his father, and his mother, Rebecca (Ashley Judd), is keeping her lips sealed, no matter how much he protests. Simon, meanwhile, is an 11-year-old with short stature  whose outsized personality belies his small stature. Indeed, he often assails the local reverend (David Strathairn) with thorny theological questions and joins Joe on his quest to find his biological father.

 

Far From the Tree (also a book by Andrew Solomon) (available on Hulu) - Parents of children who have Down syndrome, dwarfism or autism share intimate stories of the challenges they face.

 

Three Identical Strangers (available on Hulu) - Identical triplets become separated at birth and adopted by three different families. Years later, their amazing reunion becomes a global sensation, but it also unearths an unimaginable secret that has radical repercussions.

Book Recommendations

Abraham Lincoln’s DNA, by Philip Reilly (nonfiction) – “slightly out of date, but a collection of very interesting essays on genetics and historical figures.” -2^nd year student

 

The Philadelphia Chromosome, by Jessica Wapner (nonfiction) – “about the discovery of the Philadelphia chromosome and development of targeted therapy for CML” -2^nd year student

 

Idaho, by Emily Ruskovitch (fiction) – “possibly the most beautiful book I have ever read. Without spoiling anything, it is about a man with early onset dementia and has a lot to do with memory, grief, guilt, etc.” -2^nd year student

 

Dark Blonde, by Belle Waring (poetry) – “a collection of poems written by a NICU nurse about her work experience” -2^nd year student

 

Inside the O’Briens by Lisa Genova (fiction)- “a really good book about a family with Huntington’s disease” -2^nd year student

 

ATLAS, by Katrina Vandenberg (poetry) – “a collection written by my friend and former professor whose first partner had hemophilia. He passed away in the 90’s due to AIDS. She talks about their relationship, in this book, and about her grief after his passing. Similar themes in her second book, THE ALPHABET NOT UNLIKE THE WORLD.” -2^nd year student

 

Stone Mattress, by Margaret Atwood (short stories) – “I love Atwood, but the real reason this book is on this list is because it includes a compelling short story about a woman with porphyria.” -2^nd year student

 

Future Home of the Living God, by Louise Erdrich (fiction) – “Dystopian read about a world in which evolution begins moving backward. It is written in letter-form, from the perspective of a Native American woman who is unexpectedly pregnant, to her child. Relevant for prenatal considerations, the role of religion, and women’s rights. (Margaret Atwood’s The Handmaid’s Tale similarly relevant!)” -2^nd year student

 

The People in the Trees, by Hanya Yanagihara (fiction) – “very creepy book, but relevant for research ethics, cultural differences, criticism of academic culture” -2^nd year student

 

Breathing for a Living – “written by a patient with Cystic Fibrosis as she waits for a lung transplant. It’s amazing and quick but sad.” -2^nd year student

 

The Spirit Catches You and You Fall Down - Anne Fadiman – “A true story about a Hmong girl with epilepsy and her family. Not genetics related but dives really deep into multicultural issues. This happened in the 90s and there was a huge disconnect with the doctors and the family, both who were trying to do what they believed was best, and how treatment was impacted. The story is interspersed with historical background on the Hmong and those parts are fascinating as well.” -2^nd year student

 

It’s Always Something- Gilda Radner – “Gilda’s story about her experience with ovarian cancer. It’s really funny (especially considering the heavy topic). One interesting aspect is that when her doctors stopped listening to her psychosocial concerns, she stopped treatment and turned to macrobiotics/crystals. She goes in depth on why she felt ignored, why the non-conventional treatment helped, and what it took for her to start conventional treatment again.” -2^nd year student

 

Spelling Love with an X - Clare Dunsford- “Written by the mom of a child with Fragile X. Really interesting perspective of how hard it can be without a diagnosis. She was the first identified carrier and other family members ended up testing positive as well, so she also talks about how that changed her relationship with her sibs/nieces/nephews.” -2^nd year student

 

Riding the Bus with my Sister - Rachel Simon – “Rachel Simon's sister Beth is a spirited woman who lives intensely and often joyfully. Beth, who has intellectual disability, spends her days riding the buses in her unnamed Pennsylvania city. The drivers, a lively group, are her mentors; her fellow passengers are her community. One day, Beth asks Rachel to accompany her on the buses for an entire year. This wise, funny, deeply affecting true story is the chronicle of that remarkable time. Rachel, a writer and college teacher whose hyperbusy life camouflaged her emotional isolation, had much to learn in her sister's extraordinary world.” -2^nd year student

 

Webinars/modules/remote learning resources

Oneinforty webinars http://oneinforty.org/upcoming-events/

WSRGN telegenetics resources: https://www.westernstatesgenetics.org/telehealth-resources/

ASHG Online Journal Club https://www.pathlms.com/ashg/courses/18113

MSRGN webinars: https://www.mountainstatesgenetics.org/projects/webinar/

Jackson Laboratory - free genetics educational modules https://learn.education.jax.org/

MSRGN genetics summit presentations (some video archived and some in PDF/PPT format): https://www.mountainstatesgenetics.org/events/msrgn-2019-gentics-summit/2019-genetics-summit-presentations-and-slides/

MSRGN - Indian Health Services (IHS) clinical rounds https://www.mountainstatesgenetics.org/projects/webinar/indiana-health-services-ihs-clinical-rounds-in-genetic-topics/

HRGN webinars https://www.heartlandcollaborative.org/about/projects/webinars/

HRGN video about individualized healthcare plans, and video comparing school plans for kids with special healthcare needs:  https://www.heartlandcollaborative.org/about/projects/current-projects/ihp/

HRGN - Care Coordination: Empowering Families: https://www.heartlandcollaborative.org/files/2014/12/Facilitator-Notes-R4-12-10-14.pdf

HRGN - telegenetics manual: https://www.heartlandcollaborative.org/files/2014/07/HEARTLAND-TELEMEDICINE-MANUAL.pdf

MGN telegenetics intro videos: https://midwestgenetics.org/resources/telemedicine-resources/

Healthcare interpreter webinars/training https://hcinlearn.org/

MGN presentation about healthcare considerations for the Amish population: https://midwestgenetics.org/wp-content/uploads/The-Amish-Culture-Medical-Care-and-Genetic-Disorders.pdf

MGN webinars about NBS (free but must register): https://mediasite.mihealth.org/Mediasite/Channel/virtual_learning_collaborative

SERN video presentations https://southeastgenetics.org/education.php

SERN - webinar series on newborn screening considerations like emergency preparedness: https://www.newsteps.org/webinars-events/short-term-follow-webinar-emergency-preparedness-october-2018

Webinar series from PreventionGenetics: https://www.preventiongenetics.com/About/Resources/Webinars

Genetics in Special Education series (need account but I believe it is free): https://www.naset.org/index.php?id=3109

Webinars for clinicians (in genetics) in response to COVID19 (involves telegenetics): https://www.negenetics.org/content/covid-19-response

 

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A Reflection on NSGC 2020

In mid-November, our students virtually attended the 39^th Annual National Society of Genetic Counselors Conference. The NSGC conference “showcases advancements across the breadth of the genetic counseling profession to provide education and build community.” In this blog, our students reflect on their experience as first-time attendees and the switch from an in-person to virtual conference.

 

 

“One of the silver-linings of a virtual conference is the fact that all sessions were recorded! There were so many interesting talks, and I was able to attend all of the ones on my list by watching them live and recorded. I learned a lot of information about hot topics in genetic counseling and heard from a variety of speakers from different backgrounds. Although we couldn’t be in Nashville, it was still a conference to remember!”

-Megan Czekalski, Class of 2021

 

“I enjoyed that there was so much information concerning whole genome sequencing, which is a main focus of my thesis. The topic was mainly introduced by laboratories but was then discussed openly by genetic counselors, so it was interesting to hear both viewpoints. It also helps that everything was virtual, so I was able to download all of the associated materials and make notes on the chats.”

-Julia Gerow, Class of 2021

 

“I was very thankful to have a roommate who is also in the program because we tried to make the most of watching the conference sessions from our apartment by casting some of the sessions to our TV. Doing that, paired with breaking out our current knitting/crocheting projects, helped break up the monotony of looking at a computer all day. It was even better when we did a group zoom with other current students and program leadership for the main sessions - it made it feel a little more like we were watching the sessions in a group setting like we would have in Nashville, and we were able to have some great conversations!”

-Trinity Sprague, Class of 2021

 

“NSGC was super interesting, and the number of topics that I got to see in just a few short days was absolutely thrilling. I made sure to take down what notes I could in my handy dandy notebook for reference and review. However, I think what I enjoyed most about my first NSGC experience was the amount of networking that I got to do. It was so humbling to see the great work that GCs across the world are putting in to advance the field. I was inspired to reinvigorate my Twitter, got in touch with fellow GCs to gather research and resources to keep the learning going post-NSGC, and loved getting a chance to meet Pitt alumni for bingo and casual break-outs. In short, I didn’t think networking could be this fun. Thanks, NSGC!”

-Frank Swann, Class of 2022

 

“Although I was sad not to be in Nashville, I really enjoyed NSGC. The presentations were all super interesting and informative. I loved hearing Gunnar Esiason’s story because it was such a personal insight into the experiences and feelings shared by many of our patients. I also appreciated that I could watch some of the longer, pre-recorded sessions in shorter intervals, which wouldn’t have been possible in an in-person presentation.”

-Chelsey Walsh, Class of 2021

Welcome Jodie Vento, our new Program Director!

 

The University of Pittsburgh Genetic Counseling Program is very excited to announce Jodie Vento, MGC, LCGC, as our new Program Director! Jodie graduated from the University of Pittsburgh with Bachelor of Science degrees in Biological Sciences and Psychology. She then obtained a Masters in Genetic Counseling from the University of Maryland, School of Medicine. She began her career as a genetic counselor and neurogenetics program coordinator at Children’s National Medical Center in Washington, DC, before joining Children’s Hospital of Pittsburgh in 2012. At UPMC Children’s Hospital of Pittsburgh, Jodie managed the Center for Rare Disease Therapy, the Brain Care Institute and the Laboratory Utilization Management Program. In her role at Children’s Hospital, Jodie worked extensively with payers to develop shared processes and resources to increase the coverage and reimbursement of genetic testing.  Jodie is currently the Insurance Alignment Committee Chair for the Patient-Centered Laboratory Guidance Services (PLUGS) Group out of Seattle Children’s Hospital. Jodie is also an active member of NSGC and is currently on the Board of Directors. In her role at NSGC, she has served as the chair of the Access and Service Delivery committee and the co-chair of the Test Utilization Subcommittee within the Industry SIG. Jodie is also one the founders and Past President of the Pennsylvania Association of Genetic Counselors. Jodie is on the board of the Pennsylvania Rare Disease Advisory Council and she serves as the Genetics Faculty for the Leadership Education in Neurodevelopmental Disabilities and Related Disorders (LEND) Program at the University of Pittsburgh. We are all absolutely thrilled to learn from her!

 

Welcome and congrats Jodie! I’m excited that we have another great GC joining the leadership of our program. I’m looking forward to getting to know you and I’m sure the program is going to continue to thrive with you as program director!

Chelsey Walsh, Class of 2021

 

Welcome Jodie! I’ve really enjoyed getting to know you over the fall semester as a first-year student. I look forward to growing as a genetic counseling student under our program’s leadership and alongside my classmates. 

Lauren Garcia, Class of 2022

 

Welcome to the program, Jodie! I’m so excited to have another dedicated mentor in the field of genetic counseling. In just the few months that we’ve known you, I can already tell you’re going to be a gift to my own learning and that of my classmates. I’m looking forward to working with you more!

Bailey Sasseville, Class of 2022

 

I was thrilled to learn Jodie would be the new program director at Pitt! Robin will obviously be leaving behind a wonderful legacy and big shoes to fill, but I think Jodie is the perfect person to do just that. Having worked with Jodie before grad school, I was lucky enough to see her passion and dedication to the field, and I’m so excited for her to bring that to our program.

Julia Knapo, Class of 2022

 

Welcome to our program, Jodie! Even though I have only attended a few classes from you, I have always been very grateful and excited to hear about your experience and insights. Every time I or my classmates have questions, you empower us with such relatable, practical bits of knowledge. Not only that, you always strive to foster critical thinking pertaining to our inquiries, to think beyond what we learn in class to best serve our future patients. I cannot wait to see you implementing this critical thinking approach to different aspects of our program, as I look forward to getting to know you and learning from you much more in this journey!

Phuc Do, Class of 2022

 

So happy to welcome Jodie to the program! It's been a very interesting semester for all of us as a result of the pandemic, but your flexibility and optimism have helped keep our heads in the game in the midst of a whirlwind semester! Aside from your solid support, you bring a hefty share of expertise to the classroom and deliver your wisdom in digestible bites. You are a perfect fit alongside program leadership (as if you were right here all along) and we are so lucky to have you with us. Grateful you are joining and looking forward to learning more from and about you, Jodie!

Frank Swann, Class of 2022

 

Welcome Jodie! I am so excited you are joining our program. From our interactions in the fall semester, I feel confident that your positive energy and incredible insights will be beneficial to my class and all future classes under your leadership. I know you will continue to be a great mentor going forward; I am honored to be a part of your first class and can’t wait to get to know you more!

Maria Rhine, Class of 2022

Our 2020 Hallogene Celebration!

For the third year in a row, Hallogene is taking place! This genetics-themed costume contest takes place over Twitter, where genetic counseling programs in the U.S. and Canada compete for likes in order to win the coveted Traveling Trophy. As first-year students, we were excited to brainstorm our first picture! COVID-19 restrictions of course made things more complicated, but through the power of video-calling and photoshop, we made it work. We were inspired by something we’re looking forward to doing as a class once life goes back to normal: hanging out in a bar! It’s just not quite the same over Zoom. Hopefully next year we’ll be able to take our picture (and meet!) in person. 

Here is our submission for Hallogene 2020: Quarantini Bar(r) Bodies.

- The Pitt first-years

Reflection on Crip Camp: A Disability Revolution

On September 24th we had a discussion about a topic that can be difficult to unpack. We watched Crip Camp: A Disability Revolution, a documentary about the journey of how the Americans with Disabilities Act was established. It also gave insight into how society as a whole tends to react to those with disabilities. Being a part of the disability community myself, I was born with Muscular Dystrophy and I use a wheelchair, this topic is very important to me. I’m passionate about breaking down misconceptions, having an open dialogue about the struggles that those with disabilities face, and speaking out about the rights and accommodations we deserve.

 

Official Release Poster, By Source (WP:NFCC#4), Fair use, https://en.wikipedia.org/w/index.php?curid=63480733

The documentary does a brilliant job telling the story of how the Americans with Disabilities Act was passed. It was not so long ago that students with disabilities were not allowed to attend school with their peers. Those with disabilities were placed in classrooms separate from able-bodied peers because the school was not wheelchair accessible nor were there proper accommodations for other disabilities. Sometimes those with disabilities wound up in underfunded, underregulated institutions which led to inappropriate and unsanitary care. It was not shocking to me that this was the case. What shocked me was that this was happening not so long ago.

 

The documentary highlights this camp that was meant for individuals with varying kinds of disabilities. It was a place where you could go and be with peers who had some degree of disability just like yourself. Here the campers were able to connect and discuss how society treats those with disabilities. This sparked the realization that individuals with disabilities deserve better. It is our right to be able to attend school, have a job, and be a part of society. The activists fought tirelessly to get the 504 plan established. It was a win when it was finally passed, but of course, the government often failed to enforce it mainly because of the cost. So in 1977, the activists occupied a government building until the 504 plan was enforced and subsequently, after years of further activism, the ADA was passed on July 26, 1990. It was powerful to observe how the activists worked hard to get the ADA passed and it was not just those with disabilities who were in the fight. Individuals from the Black Panthers and LGBTQ+ organizations helped out. The intersectionality of civil rights was a remarkable sight and one that is still relevant in society today. Our fight is their fight and vice versa.

 

The aspect of the documentary that is important is how it shows the social model of disability and how even though the ADA was passed, we have only hit the tip of the iceberg. The social model of disability describes how an individual is not limited by their disability, but by their environment and society. I constantly try to explain this concept to able-bodied individuals. I know my body. I know what it can and cannot do. The issue is not my disability. The issue is that the world was simply not made for me and society continues to not enforce the ADA properly. How am I supposed to be a part of society if society does not want to spend the money to provide proper accommodations? There needs to be more preemptive designing with disabilities in mind. Why does there only have to be one wheelchair accessible bathroom? Why can't there be multiple bathrooms made for different disabilities? These are questions that architects and engineers need to ponder.

 

It is also not just the lack of enforcement of the ADA, but how society views those with disabilities. These preconceived notions about how frustrating our lives are, which just isn't true. Again, the only frustrations are the systematic obstacles that society puts in place. The fact that transportation is so difficult because wheelchair accessible taxis only run certain hours or the elevator to the subway is broken, the difficulty of finding a job because you have to list your disability, no braille marks, no sign language interpreter, reliable aids are hard to find because they are underpaid, and finding affordable housing. I could continue listing examples, but the main point is that those with disabilities do not/should not change; society needs to change.

 

Haley Kulas, Class of 2021

Observing Clinical Research at the CHP Lysosomal Storage Disorder Clinic

As a second-year genetic counseling student completing a pediatric rotation at UPMC Children’s Hospital of Pittsburgh, you get to have many unique experiences. You see kids (and their families) with a variety of genetic conditions and attend different clinics within the hospital, such as the Phenylketonuria (PKU) clinic and Lysosomal Storage Disorder (LSD) clinic. Typically, genetic counseling students see 1 or 2 patients in the LSD clinic, however, I was able to see 3 and was fortunate to interact with a research participant as a part of my LSD clinic experience.

https://doi.org/10.3390/ijms21082704

The Children’s Hospital of Pittsburgh, like a number of hospitals across the nation, participates in clinical trials for conditions known as lysosomal storage disorders. This category of conditions is made up of disorders such as Gaucher disease, Fabry disease, and all forms of Mucopolysaccharidosis (MPS), among many more. What these conditions share in common is the fact that a specific cellular organelle, the lysosome, isn’t able to break down a certain substance because an enzyme is missing or doesn’t work, and thus the lysosome becomes full of these substances. The specific condition someone with a lysosomal storage disorder has is related to what enzyme is missing or not working, and what specific genetic change is causing that enzyme to not work. This is how the conditions are differentiated. The wide range of symptoms people with lysosomal storage disorders have are due to the accumulation of these substances that can not be broken down.

 

A handful of lysosomal storage disorders are treated with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). One of the current issues with LSDs that are neurodegenerative (these are conditions that affect the central nervous system), is the difficulty of an intravenous therapy not being able to cross the blood-brain barrier. This means that any accumulation in the central nervous system will continue over time and not respond to treatment. However, there is on-going research into different medications and therapies (such as gene-replacement therapy) that can help treat these patients, and hopefully cross the blood-brain barrier. Some of this research has made its way into clinical trials. I was fortunate enough to be able to participate in a case where the patient was also a participant in one of these clinical trials.

 

Prior to meeting with this patient and their family, I reviewed the patient’s medical record to get a deeper understanding as to why they are seen by Medical Genetics. I also reviewed the details of the clinical trial to get an understanding of the research, and what the researchers hope to accomplish. It was absolutely fascinating learning about how this treatment might help people in the future.

 

I met with the patient and the family with Nadene Henderson, a genetic counselor, and the research coordinator for the study at Children’s. I was able to get an understanding of how often this particular family comes to the hospital for the study, and the family informed us that they feel like this clinical trial is significantly helping their child. I was able to observe the medical team take blood and urine samples for the lab prior to the patient being sent to an operating room for a lumbar puncture and infusion of the investigational drug. The purpose of infusing the drug intrathecally (IT), or through the spinal canal, is to allow the medication to bypass the blood-brain barrier and hopefully help treat the substrate accumulation in the central nervous system. It was fascinating watching the surgeon inject this medication and complete the procedure.

 

Seeing a clinical trial patient is not an experience students typically have while rotating at Children’s LSD clinic. That said, if you’re interested in clinical research, I highly recommend speaking with a researcher. It was interesting learning about how Nadene’s work as a clinical genetic counselor transitioned into a research genetic counselor position, and how her clinical experiences impact her research practices and vice versa. I think all genetic counseling students should have the opportunity to interact with research genetic counselors.

 

I really appreciated getting to participate in this experience. It was a pleasure to meet this family, and it was a fantastic opportunity to see research applied first-hand. I  have a deeper appreciation for the hard work that researchers are doing to identify treatments for complex conditions! 

 

Michael Gosky, Class of 2021

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