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PCDfert SIGNED

Identification of novel genes and mechanisms for PCD and male infertility

Total Cost €

EC-Contrib. €

Partnership

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PCDfert project word cloud

Explore the words cloud of the PCDfert project. It provides you a very rough idea of what is the project "PCDfert" about.

effect tail mechanisms human society function severe poorly transition induce train time intervention familiarize tails data imaging status birth gene genetics uses shown health causative integration infertility uk defects infections fellowship recurrent consultation tz axoneme core plan inherited patient zone motility structure respiratory first fertility starting prospect protein extensive investigates transport patients disease experiments roles tracts serious group cilia male cohort genetic gain sperm prominent causes panel senior expertise foundations indispensable utilize ucl dyskinesia molecular examined identification primary researcher career insights mutations functionally resolution microtubular pcd ciliary compromised spermatogenesis soon training

Project "PCDfert" data sheet

The following table provides information about the project.

Coordinator	UNIVERSITY COLLEGE LONDON Organization address address: GOWER STREET city: LONDON postcode: WC1E 6BT website: n.a. contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.
Coordinator Country	United Kingdom [UK]
Total cost	183˙454 €
EC max contribution	183˙454 € (100%)
Programme	1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
Code Call	H2020-MSCA-IF-2017
Funding Scheme	MSCA-IF-EF-ST
Starting year	2018
Duration (year-month-day)	from 2018-09-01 to 2020-08-31

Partnership

Take a look of project's partnership.

#	participants	country	role	EC contrib. [€]
1	UNIVERSITY COLLEGE LONDON UNIVERSITY COLLEGE LONDON Organization address address: GOWER STREET city: LONDON postcode: WC1E 6BT website: n.a. contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	UK (LONDON)	coordinator	183˙454.00

Map

Project objective

Human health issues due to genetic causes induce prominent costs for the society and cause serious health problems. Therefore, this project aims to train the Experienced Researcher in human molecular genetic studies to identify genetic causes for inherited defects and utilize the previous knowledge of the Researcher in molecular genetics of spermatogenesis to establish causes of human male infertility. Specifically this study uses a unique Primary Ciliary Dyskinesia (PCD) patient cohort for identification of novel causative mutations and their roles in cilia. PCD is characterized by recurrent infections of the respiratory tracts starting soon after birth, which without early intervention will develop into severe respiratory disease. The functionally similar microtubular core structure (‘axoneme’) of cilia and sperm tails required for their motility means that compromised ciliary function may also be a cause of male infertility. For the first time the effect of PCD mutations on sperm development will be examined, which is crucial for consultation of PCD patients for their fertility status. These experiments will also provide data for genetic causes of male infertility and allow development of a gene panel for specific sperm defects. To further gain expertise in state-of-the-art methods and research objectives, the Researcher will familiarize in high resolution imaging and investigates the transition zone (TZ) structure in developing sperm. TZ has been recently shown to be indispensable structure controlling the protein transport to cilia, but its role is poorly understood and not known in sperm. Thus, this project will produce novel insights into the mechanisms of cilia and sperm tail formation and enhance the career prospect of the Researcher through extensive training and state-of-the-art research plan. The fellowship enables integration of the Researcher within the Cilia research group in UCL and future senior fellowship application to UK based foundations.

Publications

List of publications.
year	authors and title	journal	last update
2019	Anu Sironen, Amelia Shoemark, Mitali Patel, Michael R. Loebinger, Hannah M. Mitchison Sperm defects in primary ciliary dyskinesia and related causes of male infertility published pages: , ISSN: 1420-682X, DOI: 10.1007/s00018-019-03389-7	Cellular and Molecular Life Sciences Nov 28	2019-12-17

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The information about "PCDFERT" are provided by the European Opendata Portal: CORDIS opendata.