Understanding kidney disease

– My name is Anna Greka, I am a Physician Scientist, I am a daughter of a kidney specialist and I grew up with my father coming home and telling stories about his patients. It really struck a chord with me, for the last 30 or 40 years we have made very little progress if any at all in developing targeted
treatments for kidney diseases. (intriguing music) So the hunt for the mutation that causes MUC1 kidney disease went
on for a decade or so, maybe even longer than that. There were groups around the world that had identified the general location of the
mutation in the human genome. And it ultimately became
apparent that the only place that was left to look
was this very dark corner of the human genome called the variable tandem repeat
region of the Mucin 1 gene. This is an area that has a
very repetitive genetic code. The Broad took on this challenge and little piece by piece they were able to eventually identify a single
letter of the genetic code that had been inserted
when the cells proofreading machinery tries to go
through that part of the genetic code then makes
sense of it in order to make a protein, it doesn’t really know what to do with it, it’s basically making trash protein that just accumulates and piles on and on, the cell basically dies, obviously we realized that we must reverse that process in some way. We think that we are on to something, we have developed a way to
get rid of this nonsense toxic protein from kidney cells, which could ultimately
become a therapy that can prevent patients with MUC1 kidney disease from developing kidney failure. For our group, success
is defined as developing an understanding of how these diseases emerge and how we can
develop a specific targeted treatment to deal with those defects. It’s an ambitious goal, but we’re continually
inspired by our patients to continue to move forward to be able to help our patients.

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