About My Research
Center/Research Area Affiliation
Biography
Inherited retinal degenerations (IRDs) are 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.
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
- Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv. 2024 Feb 13.
- Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. Res Sq. 2024 Feb 09.
- Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024 Jan 30; 5(2):100273.
- Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05.
- Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. medRxiv. 2023 Sep 28.
- Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13.
- Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker. JCI Insight. 2023 08 08; 8(15).
- Structure-based network analysis predicts mutations associated with inherited retinal disease. medRxiv. 2023 Jul 06.
- Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes. Adv Exp Med Biol. 2023; 1415:173-182.
- Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration. Cold Spring Harb Mol Case Stud. 2022 12; 8(7).
- Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease. Int J Mol Sci. 2022 Jun 28; 23(13).
- A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes. Cold Spring Harb Mol Case Stud. 2022 02; 8(2).
- Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Ophthalmic Genet. 2022 06; 43(3):332-339.
- The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK). Genet Med. 2022 02; 24(2):332-343.
- Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. NPJ Genom Med. 2021 Jun 29; 6(1):53.
- Moving Towards PDE6A Gene Supplementation Therapy. JAMA Ophthalmol. 2020 12 01; 138(12):1251-1252.
- WDR34, a candidate gene for non-syndromic rod-cone dystrophy. Clin Genet. 2021 02; 99(2):298-302.
- Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. Am J Hum Genet. 2020 06 04; 106(6):893-904.
- A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families. Hum Mol Genet. 2020 04 15; 29(6):967-979.
- Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. Genet Med. 2020 06; 22(6):1079-1087.
- Expanding the phenotypic spectrum in RDH12-associated retinal disease. Cold Spring Harb Mol Case Stud. 2020 02; 6(1).
- Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B. JAMA Ophthalmol. 2019 06 01; 137(6):669-679.
- De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 07; 27(7):1081-1089.
- Detection of Large Structural Variants Causing Inherited Retinal Diseases. Adv Exp Med Biol. 2019; 1185:197-202.
- Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene. Invest Ophthalmol Vis Sci. 2018 10 01; 59(12):4812-4820.
- Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. Genet Med. 2019 03; 21(3):694-704.
- Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects. Hum Mol Genet. 2018 06 01; 27(11):2012-2024.
- Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models. Genes (Basel). 2018 Apr 16; 9(4).
- Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway. Hum Mol Genet. 2018 01 01; 27(1):147-159.
- The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA. Mol Vis. 2017; 23:695-706.
- Photoreceptor Cilia and Retinal Ciliopathies. Cold Spring Harb Perspect Biol. 2017 Oct 03; 9(10).
- Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations. Genet Med. 2017 06; 19(6):643-651.
- Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1. Invest Ophthalmol Vis Sci. 2016 09 01; 57(11):4806-13.
- Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa. PLoS One. 2015; 10(11):e0142614.
- Targeted exon sequencing in Usher syndrome type I. Invest Ophthalmol Vis Sci. 2014 Dec 02; 55(12):8488-96.
- 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. 2015 Apr; 17(4):253-261.
- Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 Jan 01; 24(1):230-42.
- Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. Am J Pathol. 2014 Oct; 184(10):2641-52.
- Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB). PLoS One. 2014; 9(3):e90342.
- Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness. Invest Ophthalmol Vis Sci. 2013 Dec 09; 54(13):8041-50.
- The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Hum Mol Genet. 2014 Jan 15; 23(2):491-501.
- A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT. J Mol Genet Med. 2013 Aug; 7(2).
- Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2013 Jan 10; 92(1):67-75.
- Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10; 90(2):321-30.
- Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis. 2012 Jan 25; 7:8.
- CRB1 mutations in inherited retinal dystrophies. Hum Mutat. 2012 Feb; 33(2):306-15.
- A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. Mol Vis. 2011; 17:1598-606.
- Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. Invest Ophthalmol Vis Sci. 2011 Jan; 52(1):190-8.
- Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. BMC Med Genet. 2010 Oct 12; 11:145.
- TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov; 85(5):720-9.
- Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP). Invest Ophthalmol Vis Sci. 2009 Dec; 50(12):5927-33.
- The CXC-chemokine CXCL4 interacts with integrins implicated in angiogenesis. PLoS One. 2008 Jul 16; 3(7):e2657.
- Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31. Mol Vis. 2008 Apr 18; 14:683-90.
- Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet. 2007 Nov; 81(5):1098-103.
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