TREATCilia SIGNED
Novel Therapeutic Avenues for dynein-related Ciliopathies
Total Cost €
0EC-Contrib. €
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Project "TREATCilia" data sheet
The following table provides information about the project.
| Coordinator |
UNIVERSITAETSKLINIKUM FREIBURG
Organization address contact info |
| Coordinator Country | Germany [DE] |
| Total cost | 1˙499˙545 € |
| EC max contribution | 1˙499˙545 € (100%) |
| Programme |
1. H2020-EU.1.1. (EXCELLENT SCIENCE - European Research Council (ERC)) |
| Code Call | ERC-2016-STG |
| Funding Scheme | ERC-STG |
| Starting year | 2017 |
| Duration (year-month-day) | from 2017-02-01 to 2022-01-31 |
Partnership
Take a look of project's partnership.
| # | ||||
|---|---|---|---|---|
| 1 | UNIVERSITAETSKLINIKUM FREIBURG | DE (FREIBURG) | coordinator | 909˙667.00 |
| 2 | STICHTING KATHOLIEKE UNIVERSITEIT | NL (NIJMEGEN) | participant | 589˙877.00 |
Map
Project objective
Background: Cilia are hair-like, microtubule-based organelles protruding from most quiescent mammalian cells. They play essential roles in cell signalling (primary cilia) as well as movement of fluid (motile cilia). Although individually rare, cilia dysfunction affects up to 1 in 500 people in Europe, significantly reducing quality of life and lifespan due to dysfunction of multiple organs, including the kidneys, liver, heart, brain, retina, airways and the skeleton. To date, treatment is purely symptomatic.
Aim and Approach: TREATCilia aims to decipher novel treatment avenues and improve clinical management for dynein-related ciliopathies. Next-generation sequencing based gene identification for dynein-related ciliopathies (ciliary chondrodysplasias and Primary Ciliary Dyskinesia, PCD) is employed to dissect the molecular basis and identify new therapeutic targets. Revealing genotype-phenotype mechanisms and their underlying cell signalling defects provides further insight into potential treatment options. Novel innovative curative approaches include high-throughput substance screening in model organisms such as the green algae Chlamydomonas and mammalian cells specially adapted for this purpose.
Impact: Identification of novel ciliopathy genes will not only improve the biological understanding, but also reveal new treatment candidates. Furthermore, scrutinizing the molecular mechanisms of disease yields pharmacological entry points. TREATCilia develops a pre-clinical pipeline towards gene and mutation-specific treatments for hereditary conditions resulting from dynein-related ciliary dysfunction.
Publications
| year | authors and title | journal | last update |
|---|---|---|---|
| 2019 |
Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis published pages: , ISSN: 1750-1172, DOI: 10.1186/s13023-018-0981-5 |
Orphanet Journal of Rare Diseases 14/1 | 2020-02-17 |
| 2019 |
Anika Wehrle, Tomasz M. Witkos, Sheila Unger, Judith Schneider, John A. Follit, Johannes Hermann, Tim Welting, Virginia Fano, Marja Hietala, Nithiwat Vatanavicharn, Katharina Schoner, Jürgen Spranger, Miriam Schmidts, Bernhard Zabel, Gregory J. Pazour, Agnes Bloch-Zupan, Gen Nishimura, Andrea Superti-Furga, Martin Lowe, Ekkehart Lausch Hypomorphic mutations of TRIP11 cause odontochondrodysplasia published pages: , ISSN: 2379-3708, DOI: 10.1172/jci.insight.124701 |
JCI Insight 4/3 | 2020-02-17 |
| 2019 |
Maryam Najafi, Dor Mohammad Kordi Tamandani, Anoush Azarfar, Zeineb Bakey, Farkhondeh Behjati, Dinu Antony, Isabel Schüle, Simin Sadeghi-Bojd, Ehsan Ghayoor Karimiani, Miriam Schmidts A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East published pages: , ISSN: 2296-2360, DOI: 10.3389/fped.2019.00089 |
Frontiers in Pediatrics 7 | 2020-02-17 |
| 2018 |
Niki T. Loges, Dinu Antony, Ales Maver, Matthew A. Deardorff, Elif Yýlmaz Güleç, Alper Gezdirici, Tabea Nöthe-Menchen, Inga M. Höben, Lena Jelten, Diana Frank, Claudius Werner, Johannes Tebbe, Kaman Wu, Elizabeth Goldmuntz, Goran Čuturilo, Bryan Krock, Alyssa Ritter, Rim Hjeij, Zeineb Bakey, Petra Pennekamp, Bernd Dworniczak, Han Brunner, Borut Peterlin, Cansaran Tanidir, Heike Olbrich, Heym Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects published pages: 995-1008, ISSN: 0002-9297, DOI: 10.1016/j.ajhg.2018.10.020 |
The American Journal of Human Genetics 103/6 | 2020-02-17 |
| 2018 |
Atteeq U. Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V. Hunter, Zeineb Bakey, Mari J. Tokita, Weimin He, Francesco Vetrini, Andrea Petersen, Federico A. Santoni, Hanan Hamamy, Kaman Wu, Fatma Al Jasmi, Martin Helmstädter, Sebastian J. Arnold, Fan Xia, Christopher Richmond, Pengfei Liu, Ehsan Gha Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function published pages: , ISSN: 1059-7794, DOI: 10.1002/humu.23694 |
Human Mutation | 2020-02-17 |
| 2019 |
Abolfazl Rad, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose-Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Peter Bauer, Zeineb Bakey, Joseph G Gleeson, Natalie Hauser, Murat Gunel, Hulya Kayserili, Miriam Schmidts MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f acial and g enital features (COFG syndrome) published pages: 332-339, ISSN: 0022-2593, DOI: 10.1136/jmedgenet-2018-105623 |
Journal of Medical Genetics 56/5 | 2020-02-17 |
| 2018 |
Machteld M. Oud, Brooke L. Latour, Zeineb Bakey, Stef J. Letteboer, Dorien Lugtenberg, Ka Man Wu, Elisabeth A. M. Cornelissen, Helger G. Yntema, Miriam Schmidts, Ronald Roepman, Ernie M. H. F. Bongers Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis published pages: , ISSN: 2046-2530, DOI: 10.1186/s13630-018-0055-2 |
Cilia 7/1 | 2020-02-17 |
| 2018 |
Sami G. Mohammed, Francisco J. Arjona, Eric H. J. Verschuren, Zeineb Bakey, Wynand Alkema, Sacha van Hijum, Miriam Schmidts, René J. M. Bindels, Joost G. J. Hoenderop Primary cilia–regulated transcriptome in the renal collecting duct published pages: 3653-3668, ISSN: 0892-6638, DOI: 10.1096/fj.201701228R |
The FASEB Journal 32/7 | 2020-02-17 |
| 2017 |
Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects published pages: 160-168, ISSN: 0002-9297, DOI: 10.1016/j.ajhg.2016.11.019 |
The American Journal of Human Genetics 100/1 | 2020-02-17 |
| 2018 |
Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W. Dougherty, Ibrahim Abu Zahira, Stef J. F. Letteboer, Dinu Antony, Alaa Darwish, Dorus A. Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T. Loges, Oded Breuer, Avraham Shaag, Azaria J. J. T. Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility published pages: e1007602, ISSN: 1553-7404, DOI: 10.1371/journal.pgen.1007602 |
PLOS Genetics 14/8 | 2020-02-17 |
| 2018 |
Inga M. Höben, Rim Hjeij, Heike Olbrich, Gerard W. Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G. Nielsen, Maria C. Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T. Loges, Heymut Omran Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms published pages: 973-984, ISSN: 0002-9297, DOI: 10.1016/j.ajhg.2018.03.025 |
The American Journal of Human Genetics 102/5 | 2020-02-17 |
| 2019 |
Teunis J. P. van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A. Wunderlich, Suzanne Rix, Gerard W. Dougherty, Nils J. Lambacher, Chunmei Li, Victor L. Jensen, Michel R. Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F. Scheel, Brunella Franco, Dorus A. Mans, Erwin van Wijk, François Képès, Gisela G. Sla CiliaCarta: An integrated and validated compendium of ciliary genes published pages: e0216705, ISSN: 1932-6203, DOI: 10.1371/journal.pone.0216705 |
PLOS ONE 14/5 | 2020-02-17 |
| 2018 |
Miriam Schmidts, Max C. Liebau Editorial: Genetic Kidney Diseases of Childhood published pages: , ISSN: 2296-2360, DOI: 10.3389/fped.2018.00409 |
Frontiers in Pediatrics 6 | 2020-02-17 |
| 2017 |
Dinu Antony, Narayanan Nampoory, Chiara Bacchelli, Motasem Melhem, Kaman Wu, Chela T. James, Philip L. Beales, Mike Hubank, Daisy Thomas, Anant Mashankar, Kazem Behbehani, Miriam Schmidts, Osama Alsmadi Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature published pages: 658-666, ISSN: 1769-7212, DOI: 10.1016/j.ejmg.2017.08.019 |
European Journal of Medical Genetics 60/12 | 2020-02-17 |
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