Browse Ideas with tag 'disease mechanisms':

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  CKD »

  More Skepticism

  As a community, we need to be more critical of the science being done in our field. There is much confusion, debate, and disagreement when it comes to disease mechanisms in the kidney. Issues like whether EMT occurs or whether stem cells exist are not at all clear. Much of the prevailing views are based on scant evidence. We are doing a disservice to young PIs who may base their fledgling research programs on poorly ...more »

  As a community, we need to be more critical of the science being done in our field. There is much confusion, debate, and disagreement when it comes to disease mechanisms in the kidney. Issues like whether EMT occurs or whether stem cells exist are not at all clear. Much of the prevailing views are based on scant evidence. We are doing a disservice to young PIs who may base their fledgling research programs on poorly substantiated dogma.

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  Submitted by Greg Dressler 2 years ago

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  All deleterious CKD mutations: Find, model, screen for new drugs

  Chronic kidney disease (CKD) is frequently caused by a mutation of a single gene. In children >25% of FSGS, cystic kidney diseases, and (likely) congenital abnormalities of the kidney and urinary tract (CAKUT) are due to a multitude of single-gene causes. Very likely, these RARE, HIGH-PENETRANCE VARIANTS will be the same that contribute as MODIFIER genes to loss of kidney function, premature ageing of the kidney, and ...more »

  Chronic kidney disease (CKD) is frequently caused by a mutation of a single gene. In children >25% of FSGS, cystic kidney diseases, and (likely) congenital abnormalities of the kidney and urinary tract (CAKUT) are due to a multitude of single-gene causes.

  Very likely, these RARE, HIGH-PENETRANCE VARIANTS will be the same that contribute as MODIFIER genes to loss of kidney function, premature ageing of the kidney, and lack of renal repair in adults.

  Every individual carries >20 deleterious (recessive or dominant) mutations, which as of this year, can be identified for $1,000-$3,000 per individual by whole exome capture (WEC) and NextGen sequencing.

  I think we owe to the community of nephrology patients that these full-penetrance mutations/CNVs are now identified (starting with severe early-onset phenotypes), then rapidly transferred into animal models (mice, zebrafish, c. elegans), in which the disease mechanisms will be studied, and in which small molecule (drug) libraries will rapidly be screened (high-throughput screening performed in lower organisms).

  This will reap by far the most important genetic DIAGNOSTIC, MECHANISTIC, and THERAPEUTIC information the genome projects can offer TODAY.

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  Submitted by Friedhelm Hildebrandt 2 years ago

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