Finding
Answers
Through
Research
Andrea Knob , MS, Genetic Counselor, Clinical Research Coordinator
Beth Israel Deaconess Medical Center
Why do I have kidney disease? Why does my kidney disease
not respond to the standard treatments? Will I get recurrence
of my kidney disease if I get a transplant? Does kidney disease
run in families?
There are many different kidney diagnoses and reasons that
individuals can end up on dialysis, and these answers are not
the same for everyone. Some forms of kidney disease may
result as part of an underlying condition such as diabetes or
hypertension, while others may be part of a known genetic
syndrome such as polycystic kidney disease. However, for
many individuals with kidney diseases such as FSGS, nephrotic
syndrome, unexplained proteinuria, and unexplained kidney
failure, the cause is unknown, and there may be many
unanswered questions. Most of these types of cases are likely
due to a combination of genetic, environmental, and lifestyle
factors, but how do we understand what these factors are and
how they add up to cause someone’s experience of kidney
disease?
At the Pollak lab in the Renal Division of Beth Israel Deaconess
Medical Center, we are trying to learn more about the cause
of kidney diseases such as FSGS, Nephrotic syndrome,
unexplained proteinuria, and unexplained kidney failure
by studying genetics. Genes (which we can think of as the
“words” within DNA) contain the instructions for the body
to carry out its functions and give rise to traits. We look at
genes related to the kidney in order to see if the instructions
are what we expect or if there is variation. From there we
want to know whether a genetic variant is a normal part of
the diversity from person to person or whether the genetic
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