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

---