variant might be giving inadequate instructions for the kidney to function as it should . Here at the Pollak lab , we have identified genetic variants ( mutations ) that we know are associated with kidney diseases such as FSGS , nephrotic syndrome , and related conditions . Although FSGS and nephrotic syndrome don ’ t usually run in families , approximately 10 % of cases do appear to have a larger inherited genetic component . We have done a lot of work with genes such as ACTN4 , NPHS2 , TRPC6 , INF2 , and APOL1 for example . We want to know more about these genes and how they work , and we think that there are important genetic mutations that we still need to discover . We also want to learn more about why kidney disease , and particularly end stage kidney disease is more prevalent in certain populations . We hope that by learning more about the genetic factors that may be involved in these kidney conditions we can eventually find more answers for patients and families with kidney disease . By studying genetics we hope to identify clues as to why and how some people develop kidney disease . We can also better understand differences in the way that people may respond to treatments . We can learn why some people experience recurrence of kidney disease in their transplanted
kidneys , and why kidney disease can sometimes run in families . We also hope to identify information that can lead scientists to better treatments with less side effects in the future . We invite patients with FSGS , nephrotic syndrome , unexplained proteinuria , and / or kidney failure as well as their family members to participate in our ongoing research . We also hope to collaborate with providers who care for these individuals and / or families in communities nationwide . Participation in our study can be coordinated by phone / email / mail and can be completed from home . It typically involves a one-time saliva sample ( or blood sample if that is your preference ), and a questionnaire . There is no cost to participate . Testing is performed on a research basis , with the option of electing to learn any relevant results that might come out of the study . ( Some people prefer not to know but still want to contribute to the research effort .) To learn more about us and our study you can contact Dr . Martin Pollak and / or our research coordinator , Andrea Knob , by phone at 617-667-0467 or by email at aknob @ bidmc . harvard . edu . You can also visit our website at https :// sites . google . com / site / pollakfsgs for more information about our research .
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