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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