Nicholas Owen

Nicholas Owen

Research Fellow and Bioinformatician

University College London

The Francis Crick Institute

Moorfields Eye Hospital NHS

Biography

I am a senior postdoctoral research fellow at the UCL Insititute of Ophthalmology in the Ocular Genomics and Therapeutics group of Professor Mariya Moosajee.

My research focuses on the molecular and cellular biology of rare diseases. Investigating the biological mechanisms involved in the genetic disease Spinal Muscular Atrophy (SMA), I developed an interest in RNA splicing and disease. My work developed and optimised an antisense based method to modulate the alternative splicing pattern of transcripts as a therapy for patients.

Since then, I have been engaged in a several research projects involving RNA splicing defects, including retinitis pigmentosa (RP) and Alzheimer’s Disease. I have continued my interests in improving our understanding of rare diseases through transcriptomic (RNA-seq), epigenetic and whole genome data analysis. With a honorary research position at Moorfields Eye Hospital I have been fortunate to investigate several genetic ocular disorders and utilise the wealth of clinical information to enhance the analysis of patient transcriptome and whole genome sequence data.

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Interests
  • Rare disease research
  • RNA, splicing and disease
  • Bioinformatics
  • Transcriptomics & Genomics
  • Personalised Medicine and Public Health
  • Public and Patient Engagement
Education
  • DPhil in Molecular Genetics

    Oxford University

  • M.Sc. Human Molecular Genetics

    St. Marys Hospital/Imperial College

  • B.Sc (Hons) Genetics

    QMUL, London

Skills

r_logo
R

R for Statistics

Disease

Human Disease Modelling

open_data_2
Open Data

Open Code and Data

python2
Python
molecules-dna2
DNA/RNA/Protein

Cell & Molecular Methods

FAIR Principles

Reproducible Code

Statistics
Supervision

Mentoring/Training

Communication

Science Communication

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Git

Version Control

Photography

HDR, Astronomy

osf_io
Open Science Framework

Open Science Framework

Research Projects

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Determining the functional disparty between CRB1 variants causing LCA and RP
Leveraging cutting-edge model systems to further understand CRB1-related eye disease
Transcriptomic analysis of model systems
Cross species transcriptome analysis can be a powerful tool for identifying rare disease genes. By looking at the transcriptome of a variety of species, including humans, it is possible to identify genes that are differentially expressed in the diseased state. This can help to identify both disease-causing genes and genes that are involved in the disease process.
Rare disease genetic diagnosis with the Genomic England 100,000 Genomes Project (GEL) UK
collaborative research with the Hearing and Sight GECIP at GEL
Meta-Analysis
to evaluate and improve research practices.

Recent Publications

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(2023). Identification of novel coloboma candidate genes through conserved gene expression analyses across four vertebrate species. Biomolecules.

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(2023). Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina. J. Pathology.

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(2023). Variant-specific disruption to SOX2-mediated Notch signalling in PAX6 patient hiPSC optic vesicles. JEM.

(2022). Multi-omics analyses identify transcription factor interplay in corneal epithelial fate determination and disease. bioRxiv.

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(2022). BMPR1B identified as a novel human ocular coloboma gene through cross-species meta-analysis. IOVS.

Source Document

(2022). Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis. Genet. Med..

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(2021). REP1-deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia. JCI Insight.

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(2021). Ocular Phenotype Associated with DYRK1A Variants. Genes.

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(2021). From Transcriptomics to Treatment in Inherited Optic Neuropathies. Genes.

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(2020). PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism. Eur J Hum Genet..

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(2020). Zebrafish retinal mRNA RNA-seq data processing. ProtocolExchange.

DOI

(2019). Data sharing: A primer from UKRN. UKRN.

DOI

(2019). Open Code/Software: A primer from UKRN. UKRN.

DOI

(2019). Transcriptome profiling of zebrafish optic fissure fusion. Sci Rep..

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(2017). Genome-wide RNA-Sequencing analysis identifies a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery. Sci Rep..

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(2016). Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. Invest Ophthalmol Vis Sci..

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(2013). BORIS/CTCFL is an RNA-binding protein that associates with polysomes. BMC Cell Biol..

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(2011). Design principles for bifunctional targeted oligonucleotide enhancers of splicing. Nucleic Acids Res..

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