Kinga M. Bujakowska, Ph.D.

Research Summary

Center/Research Area Affiliation

Research Summary

Inherited retinal degenerations (IRDs) is a group of heterogeneous diseases that lead to dysfunction and/or degeneration of rod and cone photoreceptors, resulting in blindness or severe impairment of vision. Despite substantial progress in sequencing technologies and over 260 IRD genes already discovered, only about 60% of IRD cases can be genetically diagnosed with the current strategies. The goal of Dr. Bujakowska's research is to discover new genetic causes of IRDs, which includes finding novel IRD genes and a systematic detection and validation of elusive mutations in already known disease genes. For example, her latest study of copy number variation indicates that 7% of IRD patients carry large deletions or duplications in the known IRD genes, thus increasing thediagnostic rate to 67%. Other classes of variants which I is interested in are the non-canonical splicing mutations and variants in the promoter, 5’ and 3’ untranslated regions, which may lead to changes in gene expression.

Selected Publications

For a full publication list, please see her CV 

  1. Gupta PR, Pendse N, Greenwald SH, Leon M, Liu Q, Pierce EA, Bujakowska KMIft172 conditional knockout mice exhibit rapid retinal degeneration and protein trafficking defects. Hum Mol Genet. 2018 Jun 1;27(11):2012-2024. 
  2. Jamshidi F, Place EM, Navarro-Gomez D, Maher M, Valkanas E, Cherry TJ, Lek M, MacArthur DG, Pierce EA, Bujakowska KM.  Contribution of structural and intronic mutations to RPGRIP1-mediated inherited retinal dystrophies. Gen Med (in press). 
  3. Bujakowska KM, Fernandez-Godino R, Place E, Consugar M, Navarro-Gomez D, White J, Bedoukian EC, Zhu X, Xie HM, Gai X, Leroy BP, Pierce EA. Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerationsGenet Med. 2016 Oct 13.
  4. Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar MB, Lancelot M-E, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FPM, Gai X, Sahel J-A, van den Born LI, Collin RWJ, Zeitz C, Audo I, Pierce EA. Mutations in IFT172 Cause Isolated Retinal Degeneration and a Mild Form of Bardet-Biedl Syndrome. Hum Mol Genet. 2014 Aug 28.

Biosketch

Education

2003: MSc (Honors), Biotechnology & Medical Biology, Jagiellonian University, Krakow, Poland; University of Bordeaux, France

2004: MSc, Cognitive Science, University of Lyon, France

2009: PhD, Molecular Genetics, University College London, London, UK

2009: Postgraduate diploma, Research Transfer and Biomedical Innovation, University of Paris VI, France

Postgraduate Training

Institut de la Vision, University of Paris VI, Paris, France, Postdoctoral Fellow, (3/2008 – 8/2012)

Mass. Eye and Ear, Senior Postdoctoral Fellow, (9/2012 – 10/2015)

Honors

2002 – Socrates Scholarship, European Union

2006 – Lindau Council Award

2008 – Travel Grant, ARVO

2012 – Young Researcher in Focus, European Vision Institute EEIG