The Missing Piece

October 26, 2021

I sit down and begin a 1,000 piece puzzle. There is that one piece that I simply can’t find. I try finding it by color, shape, and looking at the picture on the box, but I still cannot find it. To me this is research. We are all hunting for that puzzle piece or pieces that will create a clear picture.
I just started my second rotation where I will be studying an uncommon eye disorder called Fuchs endothelial dystrophy. In Fuchs dystrophy, the cornea of the eye will thicken causing blurry vision and potential blindness. In fact, it is the leading cause of corneal transplants. But what causes Fuchs dystrophy is something we are still trying to determine. What we do know is that it is a protein misfolding disorder meaning that it impairs the function of a specific protein caused by a trinucleotide repeat expansion, or a specific part of the gene repeats more than it is supposed to. Fuchs dystrophy has genetic and non-heritable factors and affects mainly women over the age of 40. I will be focusing on the genetic factors for my rotation.

An important phenomenon to be aware of with repeat expansion disorders is anticipation. As genetic diseases are passed down, the signs and symptoms can become more severe and appear earlier in future generations. Other diseases affected by trinucleotide repeat expansions typically affect the nervous system. An example is Huntington disease, a devastating neurodegenerative disease affecting movement. See below a diagram showing anticipation in Huntington Disease.
Anticipation: the tendency for future generations to experience a more severe form of the disease and/or have an earlier age of onset.
As I start to learn about Fuchs dystrophy, I feel the presence of that missing puzzle piece. This constant missing gap energizes and excites me. It’s the reason I am here.  Even if I am not the one who discovers the piece to the puzzle, that doesn’t matter. What matters is that the scientific community works together as a whole to better understand disease and improve care. We do this through publishing. 
“Research is not about the single publication but about a discussion between papers.” (European Society of Endocrinology) 
We are not going to discover THE answer in one paper, but by publishing, we either start or contribute to the conversation. 
In all honesty, I actually hate regular puzzles. They are visually overwhelming to me. But filling the holes in a mental puzzle is my motivation.

Paulson H. (2018). Repeat expansion diseases. Handbook of clinical neurology, 147, 105–123.
Eye image:
Anticipation Image:


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