Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa

2010 Pilot Project Read More


Principal Investigator: Joseph Corbo (WashU Pathology & Immunology)
Co-investigators: Rob Mitra (WashU Genetics), Frans Cremers (Nijmegen Medical Centre, The Netherlands)


The investigators use a new technique, known as next-generation DNA sequencing, to identify the genetic causes of blindness in several patients. Dr. Corbo and the co-investigators will utilize a novel computational strategy which permits them to sift through these large next-generation sequencing datasets and find the cause of disease much more readily than was previously possible. Not only will these studies improve our ability to identify the cause of blindness in individual patients, but they will lay the groundwork for applying this same strategy to other neurodegenerative diseases in the future.


Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; European Retinal Disease Consortium, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC. Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa. Am J Hum Genet, 89(2):253-64, (2011).

Updated January 2019

Hope Center Investigators

Joseph Corbo

Rob Mitra


This pilot project is made possible by the Danforth Foundation Challenge.

Danforth Challenge