UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Genetic studies of focal segmental glomerulosclerosis: a waste of scientific time?

Howie, AJ; (2018) Genetic studies of focal segmental glomerulosclerosis: a waste of scientific time? Pediatric Nephrology 10.1007/s00467-018-4161-6. (In press). Green open access

[thumbnail of Genetic studies of focal segmental glomerulosclerosis published.pdf]
Preview
Text
Genetic studies of focal segmental glomerulosclerosis published.pdf - Published Version

Download (437kB) | Preview

Abstract

Many genetic causes of focal segmental glomerulosclerosis (FSGS) have been described. A paradox is that the science in the molecular biology, which generally appears of high quality, is not mirrored by a similarly critical analysis of the renal pathology. FSGS has been applied to such a wide range of conditions that it can reasonably be said to have no useful meaning. Attempts to refine the term have been largely ignored. Study of 252 papers on genetic causes of FSGS found various clinical features. Many papers took the reported diagnosis without question. Few papers reported a pathological review, almost half reported FSGS and up to six other conditions caused by any particular gene, some reported FSGS with recognisable glomerular disorders, over 80% did not apply the Columbia classification, and in nearly all with photomicrographs, the images were not useful for refinement of FSGS. Some workers commented on a lack of genotype-phenotype correlation. One reason is a disregard of the principle that scientific investigation requires an unambiguous definition of the condition studied, to allow others to replicate or refute the findings. Genetic studies of FSGS should use a similarly rigorous approach to renal pathology to that used in molecular biology.

Type: Article
Title: Genetic studies of focal segmental glomerulosclerosis: a waste of scientific time?
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/s00467-018-4161-6
Publisher version: http://doi.org/10.1007/s00467-018-4161-6
Language: English
Additional information: Copyright © The Author(s) 2018. Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Keywords: Focal segmental glomerulosclerosis, Genetics, Renal pathology
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Oncology
URI: https://discovery.ucl.ac.uk/id/eprint/10069524
Downloads since deposit
77Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item