Our research focuses on primary cilia, eyelash-like protrusions on the cell membrane. Like 'biological antennae', they receive information that is crucial to how cells develop. When cilia don't function it can lead to serious illnesses, called ciliopathies. Specifically we are looking into how cilia function in eye cells and how ciliopathy patients can be treated.

In recent years, primary cilia have emerged as unique and multifunctional organelles as well as having been implicated in a variety of cellular and developmental processes. Primary cilia are components of virtually all vertebrate cell types, which explains why primary cilia defects cause a spectrum of clinical phenotypes. Many human diseases have been associated with primary cilia dysfunction, collectively termed 'ciliopathies'. Bardet-Biedl syndrome (BBS) is one of the first human syndromes to be identified as being caused by primary cilia dysfunction. One of the hallmark symptoms of BBS and other ciliopathies is retinal degeneration. Till now, elucidation of disease mechanisms have focused on trafficking across the photoreceptor connecting cilium, which corresponds to the transition zone of a modified primary cilium; however, defects in other ciliated cell types in the eye may also be contributing to disease manifestation.

One of the first signaling pathways shown to be associated with the primary cilium is the wingless (Wnt) signaling pathway, which is known to regulate diverse processes during development, including cell fate, structural remodeling and cell polarity. Wnt signaling has been shown to be crucial for the development and function of the retinal pigment epithelium (RPE), a monolayer epithelium tightly associated with photoreceptors and critical for photoreceptor function and survival. Despite the well known close association of these two cell types, the potential contribution of RPE disruption to retinal degeneration has not, to date, been extensively considered. Concomitantly, studies into the ciliary regulation of Wnt signaling are predominantly restricted to in vitro based model systems with limited understanding in mammalian systems.

Our Team

Helen May-Simera, PhDPrincipal Investigator

Dr Helen May-Simera was born in Great Britain in 1981 and studied biochemistry at the University of Bath. After completing her Master's degree in 2003 she was a doctoral student at University College London, where she obtained her doctorate in 2008. She then moved to the USA to conduct research as a postdoc at the National Institute of Health in Bethesda, initially at the National Institute on Deafness and Communication Disorders, and then later at the National Eye Institute. In 2014 she was awarded the Sofia Kovalevskaja award, allowing her to continuing her research at the University of Mainz as a young group leader.

Viola Kretschmer, PhD Lab Manager & Head of Visual Assessment Unit

Sarita Patnaik, PhD Post Doctoral Fellow

Sandra Schneider PhD Student

Lena Brücker PhD Student

Ann-Kathrin Volz PhD Student

Tommy Sroka Masters Student

Aalaa Farag Masters Student

Dominik Reichert Bachelor Student

Join Us

To apply, please send a cover letter, curriculum vitae, list of publications, contact information of three references and a personal statement describing research experience, current interests, and future goals to hmaysime@uni-mainz.de

Student Research Assistant (HiWi)

Master, Bachelor and Rotation Students

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