Research Extra New Frontiers symposium New Frontiers symposium 2015 report

Summary symposium

Cilia Medicine­>                               

Primary cilia are highly conserved sensory organelles that extend from the surface of almost all vertebrate cells. Primary cilia have critical roles in sensing the extracellular environment, and in numerous developmental signalling pathways. Disruption of these functions underlies a diverse spectrum of (genetic) disorders, known as primary ciliopathies. Known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, and some forms of retinal degeneration. True to our Frontiers symposia, a top line-up of speakers provided high-quality presentations on current achievements and challenges ahead.

undefinedIn front of an audience of more than 230 scientists, Prof. Paul Smits, Dean / vice-Chairman Radboud University Medical Center, opened the  symposium. The first speaker of the first session, Cilia disorders & therapeutics, was Heymut Omran (Münster, Germany). He discussed his impressive research about the role of motile cilia in disease. The Hans Bloemendal Medal for 2015 was awarded to Professor Heymut Omran, in recognition of his groundbreaking studies on ciliopathies (link).

Lotte Pedersen (Copenhagen, Denmark) discussed how the KIF13B and NPHP4 interact to establish a caveolin-enriched membrane domain at the ciliary transition zone. Esben Lorenzen (Martinsreid, Germany) discussed the structural studies of the IFT-B complex: implications for the IFT of tubulin-cargo. George Witman (Massachusetts, USA) talked about In vivo functions of specific intraflagellar transport (IFT) proteins and protein domains. Dennis Brown (Boston, USA) presented truly amazing super high resolution helium ion scanning microscopy images of the kidney. 

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The second session focused on Cilia & development. Martin Blum (Honenheim, Germany) discussed the evolution and conservation of left-right patterning followed by Jeremy Reiter (San Francisco, USA) who talked about ciliary lipids that modulate Hedgehog signaling. In the third session  the speakers talked about the  complixity of ciliopathies. The focus of session three was the complexity of ciliopathies. Dorien Peters (Leiden, The Netherlands) discussed about polycystic kidney disease followed by Rachel Giles (Utrecht, The Netherlands) about replication stress causes DNA damage and subsequent cilia loss in Joubert syndrome.

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During the second day of the symposium, the fourth session focused  on cilia disorders & therapeutics. Jing Zhou (Boston, USA) presented work on polycystin protein family and the primary cilia. Stefan Somlo (New Haven, USA) discussed his work on the increasingly complex relationship of polycystin and cilia function with autosomal dominant polycystic kidney and liver disease followed by Joost Drenth (Nijmegen, The Netherlands) who talked about cholangiocyte organoids as a model of polycystic liver disease. After the coffee break Uwe Wolfrum (Mainz, Germany) discussed about photoreceptor cilia function in health and disease. Rob Collin (Nijmegen, The Netherlands) presented his work on insight into disease mechanisms and new treatments for inherited blindness.

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After the lunch and postersession Phil Beales (Londen, UK) talked about the question What good are cilia in the brain? Ronald Roepman (Nijmegen, The Netherlands) discussed systems biology of the cilium in health and disease followed by Oliver Blacque (Dublin, Ireland) who gave a lecture about TMEM107 recruits ciliopathy proteins to anchored subdomains of the ciliary transition zone membrane and causes Joubert syndrome. The symposium was drawn to a close with the  keynote lecture by Cayetano Gonzelez (Barcelona, Spain) on centrobin function in terminal differentiation.

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Also this year we had a poster session during the 2 days of the Symposium. An excellent jury awarded three best poster prizes. They received a certificate and an amount of money. The prize winners of 2015:


Ruxandra Bachmann-Gagescu

Jeroen van Reeuwijk

Albane Bizet (absent from picture)



Day 1 photos (link)

Day 2 photos (link)

Wijnfort party (link)

Summary Public Evening

''Therapie in Zicht''

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Summary Public Evening

On Wednesday 2nd December, Cathy van Beek presented a RIMLS public evening asking the question: how far are we from treating the cause of inherited blindness?

Genetic factors play a role in many kinds of eye disease, including those diseases that are the leading cause of blindness among infants, children and adults. More than 60 percent of cases of blindness among infants are caused by inherited eye diseases such as congenital cataracts, congenital glaucoma, retinal degeneration, optic atrophy and eye malformations. In adults, glaucoma and age-related macular degeneration are two of the leading causes of blindness, and both appear to be inherited in a large portion of cases. Researchers have mapped several genes for glaucoma and are starting to identify genes involved in macular degeneration. They also are making very significant progress in identifying the genes that cause retinitis pigmentosa, a degenerative disease of the retina that causes night blindness and gradual vision loss. Currently, we can't fully repair damaged retinal damage, but what about the future? What about the promise of stem cell therapy or the promise of gene therapy? What are the ethical implications of these types of treatments?

These and related questions were discussed during the interactive panel discussion with  Carel Hoyng (ophthalmologist), Ronald Pennings, (throat, nose and ear specialist), Rob Collin (researcher), Evert van Leeuwen (ethics),  René van der Veer (patient) and Stijn Belt, (father of a child with Usher 1B and chair of the MUS foundation) in front of 230 members of the public. Dr. Camiel Boon, LUMC, opened the evening with a general introduction to clinical aspects of hereditary retinal diseases, followed by a talk by Dr. Rob Collin, Radboudumc, regarding the development of gene therapy for treatment of hereditary retinal diseases.

Muzieum (, together with Stichting wetenschappelijk onderzoek Doofblindheid (, Retina Nederland (, Macula Vereniging (, Ushersyndroom - Stichting MUS ( en Bartiméus ( were present during the evening with various flyers, pamphlets and demonstrations regarding blindness.

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All photo's of this Public Evening [link].

Text from the writing interpreter [link


Bloemendal Medal

The Hans Bloemendal Medal for 2015 is awarded to Professor Heymut Omran, in recognition of his groundbreaking studies on ciliopathies.

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Bloemendal Medal

Hans Bloemendal Medal
Professor Heymut Omran­>

The Hans Bloemendal Medal for 2015 is awarded to Professor Heymut Omran, in recognition of his groundbreaking studies on ciliopathies.

Heymut Omran obtained his medical degree from the Albert-Ludwigs-University in 1994 and subsequently completed his habilitation in 1980 on kidney failure in children. Specifically, nephronophthisis, a rare genetic disorder affecting cilia function. This early work formed the basis of his interest in ciliopathies. Currently, Heymut’s clinical and research specialty focuses on primary ciliary dyskinesia, (PCD) another ciliopathy that causes defects in cilia function in the respiratory tract. The diagnosis of PCD is a speciality in itself. Only a few centers worldwide have the necessary expertise. Heymut Omran is the Chief Medical Director of one such center at the University Hospital Münster. In his scientific quest to understand rare hereditary diseases, his group was able to decipher many genetic defects of ciliopathies and characterize the importance and molecular mechanisms of action of motile cilia / flagella. His research has significantly contributed to clarifying the aetiology of cystic kidney disease, chronic respiratory disease, retinalundefined degeneration, infertility and hydrocephalus. Using molecular genetics and cell biological techniques he characterized evolutionarily conserved biological mechanisms involved in the setting of left & right body asymmetry and mucociliary cleansing of the airways. Heymut Omran has won numerous awards for his research activities, most recently in 2015 the Eva Luise Köhler Research Prize for Rare Diseases. He is also an elected fellow of the prestigious Leopoldina National Academy of Sciences, one of the oldest academies of science in the world. Heymut Omran is a passionate and devoted paediatrician with a clear ambition to make a significant impact on healthcare. An inspiration to all, he has trained and mentored many young scientists to follow in his footsteps.

About Hans Bloemendal

Emeritus Prof. Hans Bloemendal (1923-2015) made significant contributions to the fields of Biochemistry and Molecular Biology throughout his illustrious career and as a prominent scientist at the forefront of research on lens proteins. He was the first to provide a new insight into the complex behaviour of lens proteins, demonstrating that crystallin heterogeneity was due to a combination of multimeric associations of different crystallin polypeptides. From 1965 to 1988, he was full professor of Biochemistry at the Radboud University Nijmegen, at both the Faculty of Science and the Faculty of Medicine. His research group was the first to isolate translatable mRNAs coding for crystallin proteins, in a time when messenger RNA isolation was still in its infancy. Once again as a pioneer, he turned to the primary structure of crystallin polypeptides, cDNA and gene cloning. His cell biology studies not only included the spatial distribution of crystallins in the lens, lens cell culture, viral transformation of lens epithelial cells, lens aging and cataract, but also beautiful work on the cytoskeleton and plasma membrane in the lens. His love and devotion to molecular life sciences made him a role model for young students and scientists alike.

Next to his scientific career, Hans Bloemendal was active in many other areas. The most important of these is of course his singing. For more than half a century, he was the first cantor at the most important synagogue in Amsterdam. His ritual Jewish songs have been recorded many times.

The Hans Bloemendal lecture award has been bestowed on a number of very prominent scientists active in many different research fields.  A full list of previous winners can be found via this link.


Poster prizes


Poster sessions­>

Poster session:
We will also have a poster session during the 2 days of the Symposium with a maximum of 40 posters in total. Submission of a poster abstract is optional. Shortly after the poster deadline (27 October) you will be informed if your poster has been selected. A jury will award cash prizes to the best three posters. Each winner will receive a certificate and 100 Euros. The poster board dimensions for the posters are 1.20 m x 1.20 m.

If you have any questions, please send us an email.