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Novel Therapeutic Avenues for dynein-related Ciliopathies

Total Cost €


EC-Contrib. €






 TREATCilia project word cloud

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

roles    chondrodysplasias    quality    dysfunction    identification    symptomatic    disease    liver    options    dynein    underlying    organelles    sequencing    ing    ciliopathies    pipeline    molecular    organs    pcd    hair    cells    reducing    yields    heart    purpose    life    employed    ciliary    mechanisms    mutation    significantly    points    treatments    provides    green    candidates    substance    signalling    basis    multiple    cell    people    algae    rare    scrutinizing    innovative    therapeutic    fluid    curative    skeleton    dissect    500    decipher    motile    revealing    protruding    hereditary    date    organisms    screening    individually    lifespan    pharmacological    chlamydomonas    treatcilia    biological    reveal    kidneys    model    defects    specially    play    microtubule    primary    throughput    brain    avenues    entry    quiescent    gene    airways    purely    cilia    develops    movement    dyskinesia    genotype    background    generation    phenotype    retina    ciliopathy    genes    clinical    mammalian    treatment   

Project "TREATCilia" data sheet

The following table provides information about the project.


Organization address
postcode: 79106
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 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


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 


 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.


year authors and title journal last update
List of publications.
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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