Friday, June 15, 2018

Week 1: Working with Pediatric Geneticists and taking in the Concrete Jungle


Coming into Immersion Term is an exciting time for me, especially since this is my first time in New York City. It is a nice breakaway from research projects and a chance to broaden my perspective and I am particularly excited! I wanted to understand more about genetic diseases and their clinical symptoms as well as some procedures related to skeletal muscle as these topics are heavily related to my work back in Ithaca. Thus, I am working with Dr. Chris Cunniff in Pediatric Genetics to gain some clinical experience on genetics and how they propagate into disease and risk factors in children. My PhD research focuses on laminopathies that develop into muscular dystrophy and the symptoms associated with these diseases develop in childhood to early adolescence. My research also focuses on genetic responses to mechanical stress, so I think my mentor will be able to provide some perspective on the genome and how we can understand its behavior clinically. I also want to take some opportunity to explore other interests related to muscle tissue as that is a pinnacle part of the day-to-day activities of my research.

Day One was a morning of logistics followed by an interesting lecture on cell hematopoiesis. Then, I got to be a part of a conference meeting where a small group of pediatricians come together and talk about some of the interesting cases they were working with recently. Amid the slew of medical jargon that I caught half of, I thoroughly began to appreciate the fact that a good number of doctors talk with their hands. That helped me extensively in picking up the symptoms of some of their patients. Genetic disorders especially have a slew of signs, symptoms, and names that are very complicated… until you get the handle of it.

Day Two was my first exposure to clinical interactions. In the short amount of time I was in with patients and discussion with Dr. Cunniff, I learned about whole exome and genome sequencing to test for genetic variations that are known to cause disease phenotypes. It fascinated me how much technology has advanced medical practice and how basic logic and pattern recognition was the standard for determining if somebody had a genetic disorder for many years before genetic testing was developed. Nowadays, you can get a sample of blood and extract chromosomes from red blood cells, stain them, and map parts of the chromosome that are recognized by the medical community to cause deformities. I will be exploring a sequencing lab soon enough to see all of this in action.

Among all the clinical exposure, I learned and remembered diseases like Marfan syndrome, autism, Kleinfelter’s syndrome, and many more along with their associated signs and symptoms. There is also a fair amount of genetic disorders that give rise to a higher risk of cancer which mechanistically seems intuitive. As you disrupt the genome and create severe phenotypes, the higher rate of instability provides a good niche for mutations that cause cancers to form. On another note, genetic disorders are often very heartbreaking and inspiring. Seeing symptoms like skeletal dysplasia in a young child to listening to a book author talk about her challenges of overcoming Usher’s syndrome can be an emotional journey that reinforces the work that medical professionals and even biomedical engineers like myself do.

Beyond the lectures and medical presentations about a range of topics in pediatrics like tetanus and immunotherapy, I was lucky enough to shadow a cardiac catheter ablation procedure with the help of my cohort buddies, Melanie. Shout out to her for that off chance opportunity because it was so amazing! Seeing first hand how doctors fix an arrythmia by ablating improperly contracting tissue in the heart was so fascinating. The amount of both simple and complicated technologies that went into that procedure gave me an appreciation for the breadth of engineering that went into what these doctors were doing.

In the coming weeks, I will hopefully start some research on this new technology that geneticists are using called Face2Gene and looking at a registry of a genetic disease called Bloom’s Syndrome. On a final note, I went to the Statue of Liberty and have eaten way too much food during my short time here!

 

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