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Published in 2021


The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project

Genetic testing presents a unique opportunity for diagnosis and management of genetic kidney diseases
(GKD). Here, we describe the clinical utility and valuable impact of a specialized GKD clinic, which uses a variety of genomic sequencing strategies.

Authors: Elhussein A. E. Elhassan, Susan L. Murray,  Dervla M. Connaughton, Claire Kennedy, Sarah Cormican, Cliona Cowhig,  Caragh Stapleton, Mark A. Little, Kendrah Kidd, Anthony J. Bleyer, Martina Ĺ˝ivná, Stanislav Kmoch, Neil K. Fennelly, Brendan Doyle, Anthony Dorman, Matthew D. Griffin,
Liam Casserly, Peter C. Harris,  Friedhelm Hildebrandt, Gianpiero L. Cavalleri, Katherine A. Benson,
Peter J. Conlon.

Date: Journal of Nephrology, Accepted 16 December 2021( https://doi.org/10.1007/s40620-021-01236-2 )

 


 

The relationship between donor-recipient genetic distance and long-term kidney transplant outcome [version 1; peer review: 3 approved]

In a large unrelated, deceased-donor European ancestry renal transplant cohort, shared donor-recipient genetic ancestry, calculated using common genetic variation, has limited value in predicting transplant outcome both on a genomic scale and at a genic level (other than at the HLA loci).

Authors: Caragh P. Stapleton, Graham M. Lord , UK and Ireland Renal Transplant Consortium, Peter J. Conlon,Gianpiero L. Cavalleri.

Date: HRB Open Research 2020, 3:47 Last updated: 01 MAR 2021

 


 

Gender and Immunosuppression impact on Merkel cell carcinoma diagnosis and prognosis.A population based cohort study

Merkel cell carcinoma (MCC) , a rare cutaneous neuro-endocrine tumour is increasing in incidence, and continues to carry a poor prognosis.This population based study provides epidemiological, clinical and outcome data for MCC over a 20-year period.

Authors: E. Keeling, E.O'Leary, S.Deady, J.P.O Neill, P.J Conlon, F.J Moloney

Date: Skin Health and Disease 2021, 10.1002/ski2.80

 


 

A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 ( RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS

Podocyte dysfunction is the main pathologic mechanism driving the development of FSGS and other morphologic types of steroid-resistant nephrotic syndrome (SRNS). Despite significant progress, the genetic causes of most cases of SRNS have yet to be identified.

Authors: Brandon M Lane, Susan Murray, Katherine Benson, Agnieszka Bierzynska, Megan Chryst-Stangl, Liming Wang, Guanghong Wu, Gianpiero Cavalleri, Brendan Doyle, Neil Fennelly, Anthony Dorman, Shane Conlon , Virginia Vega-Warner, Damian Fermin, Poornima Vijayan, Mohammad Azfar Qureshi, Shirlee Shril, Moumita Barua, Friedhelm Hildebrandt, Martin Pollak, David Howell, Matthew G Sampson , Moin Saleem , Peter J Conlon, Robert Spurney, Rasheed Gbadegesin.

Date: J Am Soc Nephrol 2021 Apr 16;32(7):1682-1695. doi: 10.1681/ASN.2020081234.

 


 

Is Bigger Better? Living Donor Kidney Volume as Measured by the Donor CT Angiogram in Predicting Donor and Recipient eGFR after Living Donor Kidney Transplantation

The role of kidney volume measurement in predicting the donor and recipient kidney function is not clear.

Authors: Chaudhry Adeel Ebad , David Brennan, Julio Chevarria, Mohammad Bin Hussein, Donal Sexton, Douglas Mulholland, Ciaran Doyle, Patrick O’Kelly, Yvonne Williams,
Ruth Dunne, Conall O’Seaghdha, Dilly Little, Martina Morrin, and Peter J. Conlon

Date: Hindawi Journal of Transplantation Volume 2021, Article ID 8885354, 6 pages https://doi.org/10.1155/2021/8885354