Dr. Kinga Bujakowska’s research focuses on the genetics of inherited retinal degenerations (IRDs). In the past, her research has focused on the disease mechanism of a dominant form of retinitis pigmentosa (RP), caused by mutations in the splicing factor gene PRPF31. During her postdoctoral fellowships at the Institut de la Vision in Paris and Mass. Eye and Ear, she contributed to the discovery and characterization of five new disease genes, and discovered that mutations in IFT172 lead to isolated RP and Bardet Biedl syndrome. She has also participated in the development of genetic testing of patients with IRDs.
Dr. Bujakowska is currently working to discover further genetic causes of IRDs, and plans to develop tools to study the functional implications of mutations in the new candidate disease genes and participate in the development of therapies for these diseases.
1. Bujakowska KM
, White J, Place E, Consugar M, Comander J. Efficient in silico identification of a common insertion in the MAK gene which causes retinitis pigmentosa
. PLoS One 2015 Nov.
2. Bujakowska KM
, Consugar MB, Place E, Harper S, Lena J, Taub DG, White J, Navarro-Gomez D, Weigel DiFranco C, Farkas MH, Gai X, Berson EL, Pierce EA. Targeted exon sequencing in Usher syndrome type I
. IOVS 2014 Dec.
3. Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med. 2014 Nov 20.
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-Saїd 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.
5. Audo I, Bujakowska K
, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
. Am J Hum Genet.
View a complete list of publications on PubMed.gov »