プロフィール詳細

プロジェクトを作成

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Dr. Daniel O.に依頼

United Kingdom

Senior Lecturer and Research Scientist in Developmental Genetics

プロフィール概要

I am a Senior Lecturer in Developmental Genetics at City St George's, University of London with over 25 years of experience in academic research, specialising in modelling rare human genetic disorders using zebrafish. My work has focused on developing and applying advanced zebrafish methodologies to investigate disease mechanisms across a range of systems, including ciliopathies, skeletal and cardiac muscle disorders, kidney disease, and neuropathies. I trained at leading UK institutions including King's College London and University College London, and have published extensively in internationally recognised journals including Nature Genetics, Nature Communications, Human Molecular Genetics, American Journal of Human Genetics, Journal of Cell Biology, and Development. My current research investigates the molecular mechanisms underlying neuromuscular disorders using zebrafish as a powerful in vivo model of rare human disease. I use a range of cutting-edge approaches, including CRISPR-mediated genome editing, transgenic reporter lines, genetic and pharmacological knockdown strategies, advanced imaging, and next-generation sequencing to dissect disease mechanisms and validate candidate pathogenic variants. Working closely with clinicians and clinical geneticists, I identify and functionally assess novel patient variants, generating in vivo evidence to support variant interpretation and classification. My work helps bridge the gap between genomic discovery and biological understanding, linking gene function to disease phenotype. Alongside my research, I have extensive experience in higher education teaching and supervision. I lecture across core Biomedical Science modules including Cell Biology, Developmental Biology, Genomic Medicine, Regenerative Medicine, Human Genetics, and Drug Discovery. I supervise PhD, MRes, and undergraduate research students, and currently serve as Deputy Course Director for the MRes Biomedical Sciences programme, Pathway Lead for MRes Reproduction and Development, and Academic Lead for the university’s Imaging Resource Facility. Areas of expertise include: Zebrafish disease models Functional genomics CRISPR genome editing Variant interpretation and validation Neuromuscular disease research Developmental genetics Advanced imaging and phenotyping Next-generation sequencing Scientific writing and manuscript review Research project design and supervision

専門分野

• ☆ Developmental Biology

サービス

• Writing
• Research
• Consulting
• Data & AI
• Product Development

Writing Medical Writing, Technical Writing

Research Market Research, User Research, Meta-Research, Feasibility Study, Technology Scouting, Fact Checking, Scientific and Technical Research

Consulting Scientific and Technical Consulting

Data & AI Image Processing, Image Analysis

Product Development Product Evaluation

職務経験

Senior Lecturer in Developmental Genetics

City St GEorge's University of London

1月 2017 - 現在

Lecturer in Genetics

St. George's, University of London

10月 2013 - 現在

Research Associate

University College London Institute of Child Health

4月 2008 - 10月 2013

学歴

Phd Developmental Biology

King's College London, University of London - United Kingdom

5月 2008 - 現在

BSc (Hons) Biology

University of Sussex

7月 2000 - 現在

PhD Developmental Biology (Randall Centre)

King's College London - Guy's Campus

- 5月 2008

Biology BSc (Hons)

University of Sussex

10月 1997 - 7月 2000

認定資格

• PhD Developmental Biology

  King's College London

  1月 2008 - 現在

• BSc (Hons) Biology

  University of Sussex

  1月 2000 - 現在

出版物

JOURNAL ARTICLE

(2020). Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3 . Genetics in medicine : official journal of the American College of Medical Genetics.

Daniel P. S. Osborn, Kuoyu Li, Stephen J. Cutty, Andrew C. Nelson, Fiona C. Wardle, Yaniv Hinits, Simon M. Hughes (2020). Fgf-driven Tbx protein activities directly induce myf5 and myod to initiate zebrafish myogenesis . Development.

Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, et al. (2019). Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia . Nature Communications.

Kim YJ, Osborn DP, Lee JY, Araki M, Araki K, Mohun T, Känsäkoski J, Brandstack N, Kim HT, Miralles F, et al.(2017). WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome . EMBO reports.

Kim Y, Osborn D, Lee J, Araki M, Araki K, Mohun T, Kansakoski JEM, Brandstack N, Kim H, Miralles F, et al.(2017). WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome .

Wan YBA, Simpson MA, Aragon-Martin JA, Osborn DPS, Regalado ES, Guo D, Boileau C, Jondeau G, Benarroch L, Isekame Y, et al.(2017). A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections .

Wan YBA, Simpson MA, Aragon-Martin JA, Osborn DPS, Regalado ES, Guo D, Boileau C, Jondeau G, Benarroch L, Isekame Y, et al.(2017). A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections .

Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, et al.(2017). Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy . American journal of human genetics.

Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, et al.(2017). Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy . American journal of human genetics.

(2016). Zebrafish: a vertebrate tool for studying basal body biogenesis, structure, and function . Cilia.

Christou-Savina S, Beales PL, Osborn DP(2015). Evaluation of zebrafish kidney function using a fluorescent clearance assay . Journal of visualized experiments : JoVE.

Christou-Savina S, Beales PL, Osborn DP(2015). Evaluation of zebrafish kidney function using a fluorescent clearance assay . Journal of visualized experiments : JoVE.

Osborn DP, Roccasecca RM, McMurray F, Hernandez-Hernandez V, Mukherjee S, Barroso I, Stemple D, Cox R, Beales PL, Christou-Savina S(2014). Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies . PloS one.

Osborn DP, Roccasecca RM, McMurray F, Hernandez-Hernandez V, Mukherjee S, Barroso I, Stemple D, Cox R, Beales PL, Christou-Savina S(2014). Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies . PloS one.

Cardenas-Rodriguez M, Irigoín F, Osborn DP, Gascue C, Katsanis N, Beales PL, Badano JL(2013). The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex . Human molecular genetics.

Cardenas-Rodriguez M, Irigoín F, Osborn DP, Gascue C, Katsanis N, Beales PL, Badano JL(2013). The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex . Human molecular genetics.

Osborn D, Boucher C, Wilson P, Gattone V, Beales P, Drummond I, Sandford R(2012). A novel 9 kDa phosphoprotein is a component of the primary cilium and interacts with polycystin-1 . Cilia.

Osborn D, Boucher C, Wilson P, Gattone V, Beales P, Drummond I, Sandford R(2012). A novel 9 kDa phosphoprotein is a component of the primary cilium and interacts with polycystin-1 . Cilia.

Osborn D, Mukherjee S, Roccasecca R, Barosso I, Stemple D, Beales P, Christou-Savina S(2012). A novel role for the obesity-associated gene FTO in ciliogenesis and Wnt signalling . Cilia.

Osborn D, Mukherjee S, Roccasecca R, Barosso I, Stemple D, Beales P, Christou-Savina S(2012). A novel role for the obesity-associated gene FTO in ciliogenesis and Wnt signalling . Cilia.

Thompson C, Prodromou N, Osborn D, Ashworth R, Knight M, Beales P, Chapple J(2012). Heat-shock induces rapid resorption of primary cilia . Cilia.

Thompson C, Prodromou N, Osborn D, Ashworth R, Knight M, Beales P, Chapple J(2012). Heat-shock induces rapid resorption of primary cilia . Cilia.

Cardenas-Rodriguez M, Osborn DP, Irigoín F, Graña M, Romero H, Beales PL, Badano JL(2012). Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome . Human genetics.

Cardenas-Rodriguez M, Osborn DP, Irigoín F, Graña M, Romero H, Beales PL, Badano JL(2012). Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome . Human genetics.

Prodromou NV, Thompson CL, Osborn DP, Cogger KF, Ashworth R, Knight MM, Beales PL, Chapple JP(2012). Heat shock induces rapid resorption of primary cilia . Journal of cell science.

Prodromou NV, Thompson CL, Osborn DP, Cogger KF, Ashworth R, Knight MM, Beales PL, Chapple JP(2012). Heat shock induces rapid resorption of primary cilia . Journal of cell science.

Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, et al.(2011). Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome . Nature genetics.

Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, et al.(2011). Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome . Nature genetics.

Osborn DP, Li K, Hinits Y, Hughes SM(2010). Cdkn1c drives muscle differentiation through a positive feedback loop with Myod . Developmental biology.

Osborn DP, Li K, Hinits Y, Hughes SM(2010). Cdkn1c drives muscle differentiation through a positive feedback loop with Myod . Developmental biology.

May-Simera HL, Kai M, Hernandez V, Osborn DP, Tada M, Beales PL(2010). Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish . Developmental biology.

May-Simera HL, Kai M, Hernandez V, Osborn DP, Tada M, Beales PL(2010). Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish . Developmental biology.

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, et al.(2010). Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene . American journal of human genetics.

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, et al.(2010). Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene . American journal of human genetics.

Pearson CG, Osborn DP, Giddings TH, Beales PL, Winey M(2009). Basal body stability and ciliogenesis requires the conserved component Poc1 . The Journal of cell biology.

Pearson CG, Osborn DP, Giddings TH, Beales PL, Winey M(2009). Basal body stability and ciliogenesis requires the conserved component Poc1 . The Journal of cell biology.

Hinits Y, Osborn DP, Hughes SM(2009). Differential requirements for myogenic regulatory factors distinguish medial and lateral somitic, cranial and fin muscle fibre populations . Development (Cambridge, England).

Hinits Y, Osborn DP, Hughes SM(2009). Differential requirements for myogenic regulatory factors distinguish medial and lateral somitic, cranial and fin muscle fibre populations . Development (Cambridge, England).

Mann CJ, Osborn DP, Hughes SM(2007). Vestigial-like-2b (VITO-1b) and Tead-3a (Tef-5a) expression in zebrafish skeletal muscle, brain and notochord . Gene expression patterns : GEP.

Mann CJ, Osborn DP, Hughes SM(2007). Vestigial-like-2b (VITO-1b) and Tead-3a (Tef-5a) expression in zebrafish skeletal muscle, brain and notochord . Gene expression patterns : GEP.

Hinits Y, Osborn DP, Carvajal JJ, Rigby PW, Hughes SM(2007). Mrf4 (myf6) is dynamically expressed in differentiated zebrafish skeletal muscle . Gene expression patterns : GEP.

Hinits Y, Osborn DP, Carvajal JJ, Rigby PW, Hughes SM(2007). Mrf4 (myf6) is dynamically expressed in differentiated zebrafish skeletal muscle . Gene expression patterns : GEP.

Hammond CL, Hinits Y, Osborn DP, Minchin JE, Tettamanti G, Hughes SM(2006). Signals and myogenic regulatory factors restrict pax3 and pax7 expression to dermomyotome-like tissue in zebrafish . Developmental biology.

Hammond CL, Hinits Y, Osborn DP, Minchin JE, Tettamanti G, Hughes SM(2006). Signals and myogenic regulatory factors restrict pax3 and pax7 expression to dermomyotome-like tissue in zebrafish . Developmental biology.

OTHER

Daniel P.S. Osborn, Kuoyu Li, Stephen J. Cutty, Andrew C. Nelson, Fiona C. Wardle, Yaniv Hinits, Simon M. Hughes(2019). Fgf-driven Tbx protein activities directly induce myf5 and myod to initiate zebrafish myogenesis . Cold Spring Harbor Laboratory