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Nicholas Blackburn

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Nicholas Blackburn

Research Fellow -Computational Genomics

Room MS2, Level 4 , Medical Sciences Precinct

+61 3 6226 4244 (phone)

Nicholas.Blackburn@utas.edu.au

Dr Nicholas Blackburn is a Research Fellow in Computational Genomics at the Menzies Institute for Medical Research. He works within the Institute’s Genetics and Cancer theme, and as part of the Multiple Sclerosis Research Flagship where he leads a genomics study of families with multiple people living with multiple sclerosis and related disorders.

Biography

Dr Blackburn was awarded his PhD in human genetics from the University of Tasmania in 2015. He then spent five years working in the United States at The University of Texas Rio Grande Valley. First as a postdoctoral fellow and then as a faculty member he conducted genomics based research, primarily in large multigenerational families, into complex diseases and quantitative phenotypes. In 2020 he returned to Australia where he is now a Research Fellow in Computational Genomics at the Menzies Institute for Medical Research. He uses his genomics expertise to provide support to a wide range of studies in the institute while growing his own research into complex disease – with a current focus on multiple sclerosis.

Career summary

Qualifications

DegreeThesis TitleUniversityCountryDate of Award

PhD

Identifying genetic susceptibilities underlying familial haematological malignancies in a Tasmanian family resource

University of Tasmania

Australia

December 2015

BSc (1st Class Honours)

Biochemistry

University of Tasmania

Australia

December 2010

BSc

Biochemistry major

University of Tasmania

Australia

December 2009

View more on Dr Nicholas Blackburn in WARP

Expertise

  • Computational genomics
  • Complex disease genetics
  • Quantitative phenotype genetics
  • Multiple sclerosis
  • Neurogenetics
  • Bioinformatics
  • Extended pedigree studies
  • Whole genome and whole exome sequencing technologies
  • Genomics
  • Transcriptomics
  • Molecular biology
  • Sea turtle fibropapilloma

Current projects

The Menzies MS family sequencing study

Genetics plays an important role in multiple sclerosis (MS) risk. ‘Case-control’ studies have helped us identify some of the population-level genetics risk factors for MS, but can’t provide the kind of genetic information that leads to new treatments. Families with multiple cases of MS are uncommon, but they do exist. Those families allow us to use ‘precision’ or personalised medicine approaches to pinpoint specific genetic differences that might lead to MS development.

This project studies the genomes of families with MS and related disorders to determine why some people are more susceptible to nerve damage following the immune attack. In this study we work with families who have several people with MS, and sequence the genomes of everyone (with or without MS) to determine if there are genetic differences that explain why some people develop MS. This work will find new MS risk genes and lead to treatments aimed at protecting or repairing the nervous system.

Fields of Research

  • Statistical and quantitative genetics (310207)
  • Neurogenetics (310511)
  • Central nervous system (320903)
  • Genomics (310509)
  • Ophthalmology (321201)
  • Medical genetics (excl. cancer genetics) (320213)
  • Genomics and transcriptomics (310204)
  • Cellular nervous system (320902)
  • Cancer cell biology (321101)
  • Haematology (320102)
  • Cancer genetics (321103)
  • Gene expression (incl. microarray and other genome-wide approaches) (310505)
  • Animal immunology (310905)
  • Endocrinology (320208)
  • Cardiology (incl. cardiovascular diseases) (320101)
  • Animal cell and molecular biology (310902)
  • Neurology and neuromuscular diseases (320905)

Research Objectives

  • Clinical health (200199)
  • Expanding knowledge in the biological sciences (280102)
  • Expanding knowledge in the biomedical and clinical sciences (280103)
  • Diagnosis of human diseases and conditions (200101)
  • Marine biodiversity (180504)
  • Control of pests, diseases and exotic species in terrestrial environments (180602)
  • Evaluation of health outcomes (200202)
  • Overweight and obesity (200411)
  • Prevention of human diseases and conditions (200104)
  • Health related to ageing (200502)
  • Treatment of human diseases and conditions (200105)

Publications

In the last 10 years Dr Blackburn has published in highly regarded journals such as Blood, Frontiers in Immunology, Scientific Reports, Journal of Lipid Research and Circulation: Genomic and Precision Medicine.

Some highlights include his lead author work in unravelling the genetics of the plasma lipidome (Blackburn et al. Journal of Lipid Research, 2020) and understanding the genetics of a leading target for cardiovascular disease therapy (Blackburn et al. Circulation: Genomic and Precision Medicine, 2021).

A further highlight stems from a project Dr Blackburn conceived while working in the US where he designed a study to examine gene expression profiles (using RNA-sequencing) in a tumour generating disease in sea turtles called fibropapilloma. This work has been published in Frontiers in Immunology (Blackburn et al. 2021). He has a keen interest in wildlife medicine, reflected in co-author publications where he has collaborated on work in the Tasmanian Devil Facial Tumour Disease (Patchett et al. Immunology and Cell Biology, 2021., and Flies et al. Frontiers in Immunology, 2017).

Dr Blackburn has also actively contributed to other genetic studies of complex human diseases and phenotypes including brain structure and ophthalmic diseases.

Total publications

27

Highlighted publications

(7 outputs)
YearTypeCitationAltmetrics
2021Journal ArticleBlackburn NB, Leandro AC, Nahvi N, Devlin MA, Leandro M, et al., 'Transcriptomic profiling of fibropapillomatosis in green sea turtles (Chelonia mydas) from south Texas', Frontiers in Immunology, 12 pp. 1-16. ISSN 1664-3224 (2021) [Refereed Article]

DOI: 10.3389/fimmu.2021.630988 [eCite] [Details]

Citations: Scopus - 6Web of Science - 6

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2021Journal ArticleBlackburn NB, Meikle PJ, Peralta JM, Kumar S, Leandro AC, et al., 'Identifying the lipidomic effects of a rare loss-of-function deletion in ANGPTL3', Circulation. Genomic and Precision Medicine ISSN 2574-8300 (2021) [Refereed Article]

DOI: 10.1161/CIRCGEN.120.003232 [eCite] [Details]

Citations: Web of Science - 1

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2021Journal ArticlePatchett AL, Tovar C, Blackburn NB, Woods GM, Lyons AB, 'Mesenchymal plasticity of devil facial tumour cells during in vivo vaccine and immunotherapy trials', Immunology and Cell Biology pp. 1-13. ISSN 0818-9641 (2021) [Refereed Article]

DOI: 10.1111/imcb.12451 [eCite] [Details]

Citations: Scopus - 4Web of Science - 5

Co-authors: Patchett AL; Tovar C; Woods GM; Lyons AB

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2017Journal ArticleBlackburn NB, Marthick JR, Banks A, Charlesworth JC, Marsden KA, et al., 'Evaluating a CLL susceptibility variant in ITGB2 in families with multiple sub-types of hematological malignancies', Blood, 130, (1) pp. 86-88. ISSN 0006-4971 (2017) [Refereed Article]

DOI: 10.1182/blood-2017-03-774232 [eCite] [Details]

Citations: Scopus - 1Web of Science - 2

Co-authors: Marthick JR; Banks A; Charlesworth JC; Lowenthal RM; Dickinson JL

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2017Journal ArticleFitzGerald LM, Raspin K, Marthick JR, Field MA, Malley RC, et al., 'Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours', Scientific Reports, 7, (1) Article 17778. ISSN 2045-2322 (2017) [Refereed Article]

DOI: 10.1038/s41598-017-18217-w [eCite] [Details]

Citations: Scopus - 6Web of Science - 6

Co-authors: FitzGerald LM; Raspin K; Marthick JR; Malley RC; Banks A; Charlesworth JC; Dickinson JL

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2017Journal ArticleFlies AS, Blackburn NB, Lyons AB, Hayball JD, Woods GM, 'Comparative analysis of immune checkpoint molecules and their potential role in the transmissible Tasmanian Devil facial tumor disease', Frontiers in Immunology, 8 Article 513. ISSN 1664-3224 (2017) [Refereed Article]

DOI: 10.3389/fimmu.2017.00513 [eCite] [Details]

Citations: Scopus - 11Web of Science - 13

Co-authors: Flies AS; Lyons AB; Woods GM

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2017Journal ArticleLucas SE, Zhou T, Blackburn NB, Mills RA, Ellis J, et al., 'Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent', Investigative Ophthalmology and Visual Science (Iovs), 58, (14) pp. 6248-6256. ISSN 0146-0404 (2017) [Refereed Article]

DOI: 10.1167/iovs.17-22417 [eCite] [Details]

Citations: Scopus - 12Web of Science - 12

Co-authors: Lucas SE; Charlesworth JC; Burdon KP

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Journal Article

(26 outputs)
YearCitationAltmetrics
2022Fortune AJ, Fletcher JL, Blackburn NB, Young KM, 'Using MS induced pluripotent stem cells to investigate MS aetiology', Multiple Sclerosis and Related Disorders, 63 pp. 103839. ISSN 2211-0348 (2022) [Refereed Article]

DOI: 10.1016/j.msard.2022.103839 [eCite] [Details]

Co-authors: Fletcher JL; Young KM

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2022Fortune AJ, Taylor BV, Charlesworth JC, Burdon KP, Blackburn NB, et al., 'Generation and characterisation of four multiple sclerosis iPSC lines from a single family', Stem Cell Research, 62 pp. 102828. ISSN 1873-5061 (2022) [Refereed Article]

DOI: 10.1016/j.scr.2022.102828 [eCite] [Details]

Co-authors: Taylor BV; Charlesworth JC; Burdon KP; Fletcher JL; Mehta A; Young KM

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2021Blackburn NB, Leandro AC, Nahvi N, Devlin MA, Leandro M, et al., 'Transcriptomic profiling of fibropapillomatosis in green sea turtles (Chelonia mydas) from south Texas', Frontiers in Immunology, 12 pp. 1-16. ISSN 1664-3224 (2021) [Refereed Article]

DOI: 10.3389/fimmu.2021.630988 [eCite] [Details]

Citations: Scopus - 6Web of Science - 6

Tweet

2021Blackburn NB, Meikle PJ, Peralta JM, Kumar S, Leandro AC, et al., 'Identifying the lipidomic effects of a rare loss-of-function deletion in ANGPTL3', Circulation. Genomic and Precision Medicine ISSN 2574-8300 (2021) [Refereed Article]

DOI: 10.1161/CIRCGEN.120.003232 [eCite] [Details]

Citations: Web of Science - 1

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2021Marthick JR, Raspin K, Foley GR, Blackburn NB, Banks A, et al., 'Massively parallel sequencing in hereditary prostate cancer families reveals a rare risk variant in the DNA repair gene, RAD51C', European Journal of Cancer, 159 pp. 52-55. ISSN 0959-8049 (2021) [Refereed Article]

DOI: 10.1016/j.ejca.2021.09.038 [eCite] [Details]

Co-authors: Marthick JR; Raspin K; Foley GR; Banks A; Malley RC; Fitzgerald LM; Dickinson JL

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2021Patchett AL, Tovar C, Blackburn NB, Woods GM, Lyons AB, 'Mesenchymal plasticity of devil facial tumour cells during in vivo vaccine and immunotherapy trials', Immunology and Cell Biology pp. 1-13. ISSN 0818-9641 (2021) [Refereed Article]

DOI: 10.1111/imcb.12451 [eCite] [Details]

Citations: Scopus - 4Web of Science - 5

Co-authors: Patchett AL; Tovar C; Woods GM; Lyons AB

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2021Yetsko K, Farrell JA, Blackburn NB, Whitmore L, Stammnitz MR, et al., 'Molecular characterization of a marine turtle tumor epizootic, profiling external, internal and postsurgical regrowth tumors', Communications Biology, 4, (1) pp. 1-16. ISSN 2399-3642 (2021) [Refereed Article]

DOI: 10.1038/s42003-021-01656-7 [eCite] [Details]

Citations: Scopus - 13Web of Science - 12

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2020Blackburn AN, Blondell L, Kos MZ, Blackburn NB, Peralta JM, et al., 'Genotype phasing in pedigrees using whole-genome sequence data', European Journal of Human Genetics, 28, (6) pp. 790-803. ISSN 1018-4813 (2020) [Refereed Article]

DOI: 10.1038/s41431-020-0574-3 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

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2020Sonderby IE, Gustafsson O, Doan NT, Hibar DP, Martin-Brevet S, et al., 'Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia', Molecular Psychiatry, 25, (3) pp. 584-602. ISSN 1359-4184 (2020) [Refereed Article]

DOI: 10.1038/s41380-018-0118-1 [eCite] [Details]

Citations: Scopus - 26Web of Science - 27

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2020van der Meer D, Sonderby IE, Kaufmann T, Walters GB, Abdellaoui A, et al., 'Association of copy number variation of the 15q11.2 BP1-BP2 region with cortical and subcortical morphology and cognition', JAMA Psychiatry, 77, (4) pp. 420-430. ISSN 2168-622X (2020) [Refereed Article]

DOI: 10.1001/jamapsychiatry.2019.3779 [eCite] [Details]

Citations: Scopus - 27Web of Science - 25

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2019Blackburn NB, Michael LF, Meikle PJ, Peralta JM, Mosior M, et al., 'Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway', Journal of Lipid Research, 60, (9) pp. 1630-1639. ISSN 0022-2275 (2019) [Refereed Article]

DOI: 10.1194/jlr.P094433 [eCite] [Details]

Citations: Scopus - 7Web of Science - 6

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2019Glahn DC, Nimgaonkar VL, Raventos H, Contreras J, McIntosh AM, et al., 'Rediscovering the value of families for psychiatric genetics research', Molecular Psychiatry, 24 pp. 523-535. ISSN 1359-4184 (2019) [Refereed Article]

DOI: 10.1038/s41380-018-0073-x [eCite] [Details]

Citations: Scopus - 27Web of Science - 3

Co-authors: Charlesworth JC

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2019Hansen RL, Safabakhsh S, Curtis JM, Hsueh W-C, Jones LI, et al., 'Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan', Diabetologia, 62, (9) pp. 1647-1652. ISSN 0012-186X (2019) [Refereed Article]

DOI: 10.1007/s00125-019-4932-z [eCite] [Details]

Citations: Scopus - 13Web of Science - 11

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2019Johnson MP, Keyho R, Blackburn NB, Laston S, Kumar S, et al., 'Glycated serum protein genetics and pleiotropy with cardiometabolic risk factors', Journal of Diabetes Research, 2019 Article 2310235. ISSN 2314-6745 (2019) [Refereed Article]

DOI: 10.1155/2019/2310235 [eCite] [Details]

Citations: Scopus - 1Web of Science - 2

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2018Blackburn NB, Porto A, Peralta JM, Blangero J, 'Heritability and genetic associations of triglyceride and HDL-C levels using pedigree-based and empirical kinships', BMC Proceedings, 12, (Suppl 9) pp. 129-258. ISSN 1753-6561 (2018) [Refereed Article]

DOI: 10.1186/s12919-018-0133-x [eCite] [Details]

Citations: Scopus - 4

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2018Lucas SE, Zhou T, Blackburn NB, Mills RA, Ellis J, et al., 'Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent', PLoS One, 13, (6) Article e0199178. ISSN 1932-6203 (2018) [Refereed Article]

DOI: 10.1371/journal.pone.0199178 [eCite] [Details]

Citations: Scopus - 15Web of Science - 12

Co-authors: Lucas SE; Charlesworth JC; Burdon KP

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2018Peralta JM, Blackburn NB, Porto A, Blangero J, Charlesworth J, 'Genome-wide linkage scan for loci influencing plasma triglyceride levels', BMC Proceedings, 12, (Suppl 9) Article 52. ISSN 1753-6561 (2018) [Refereed Article]

DOI: 10.1186/s12919-018-0137-6 [eCite] [Details]

Citations: Scopus - 7

Co-authors: Blangero J; Charlesworth J

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2018Porto A, Peralta JM, Blackburn NB, Blangero J, 'Reliability of genomic predictions of complex human phenotypes', BMC Proceedings, 12, (Suppl 9) pp. 157-258. ISSN 1753-6561 (2018) [Refereed Article]

DOI: 10.1186/s12919-018-0138-5 [eCite] [Details]

Citations: Scopus - 5

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2018Zhou Y, Chen M, Simpson Jr S, Lucas RM, Charlesworth JC, et al., 'Common genetic variation within miR-146a predicts disease onset and relapse in multiple sclerosis', Neurological Sciences, 39, (2) pp. 297-304. ISSN 1590-1874 (2018) [Refereed Article]

DOI: 10.1007/s10072-017-3177-1 [eCite] [Details]

Citations: Scopus - 14Web of Science - 1

Co-authors: Zhou Y; Simpson Jr S; Charlesworth JC; van der Mei I; Taylor BV

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2017Blackburn NB, Marthick JR, Banks A, Charlesworth JC, Marsden KA, et al., 'Evaluating a CLL susceptibility variant in ITGB2 in families with multiple sub-types of hematological malignancies', Blood, 130, (1) pp. 86-88. ISSN 0006-4971 (2017) [Refereed Article]

DOI: 10.1182/blood-2017-03-774232 [eCite] [Details]

Citations: Scopus - 1Web of Science - 2

Co-authors: Marthick JR; Banks A; Charlesworth JC; Lowenthal RM; Dickinson JL

Tweet

2017FitzGerald LM, Raspin K, Marthick JR, Field MA, Malley RC, et al., 'Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours', Scientific Reports, 7, (1) Article 17778. ISSN 2045-2322 (2017) [Refereed Article]

DOI: 10.1038/s41598-017-18217-w [eCite] [Details]

Citations: Scopus - 6Web of Science - 6

Co-authors: FitzGerald LM; Raspin K; Marthick JR; Malley RC; Banks A; Charlesworth JC; Dickinson JL

Tweet

2017Flies AS, Blackburn NB, Lyons AB, Hayball JD, Woods GM, 'Comparative analysis of immune checkpoint molecules and their potential role in the transmissible Tasmanian Devil facial tumor disease', Frontiers in Immunology, 8 Article 513. ISSN 1664-3224 (2017) [Refereed Article]

DOI: 10.3389/fimmu.2017.00513 [eCite] [Details]

Citations: Scopus - 11Web of Science - 13

Co-authors: Flies AS; Lyons AB; Woods GM

Tweet

2017Lucas SE, Zhou T, Blackburn NB, Mills RA, Ellis J, et al., 'Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent', Investigative Ophthalmology and Visual Science (Iovs), 58, (14) pp. 6248-6256. ISSN 0146-0404 (2017) [Refereed Article]

DOI: 10.1167/iovs.17-22417 [eCite] [Details]

Citations: Scopus - 12Web of Science - 12

Co-authors: Lucas SE; Charlesworth JC; Burdon KP

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2015Blackburn NB, Charlesworth JC, Marthick JR, Tegg EM, Marsden KA, et al., 'A retrospective examination of mean relative telomere length in the Tasmanian Familial Hematological Malignancies Study', Oncology Reports, 33, (1) pp. 25-32. ISSN 1791-2431 (2015) [Refereed Article]

DOI: 10.3892/or.2014.3568 [eCite] [Details]

Citations: Scopus - 9Web of Science - 9

Co-authors: Charlesworth JC; Marthick JR; Tegg EM; Marsden KA; Lowenthal RM; Dickinson JL

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2015Climie RED, Moran C, Callisaya M, Blizzard L, Sharman JE, et al., 'Abdominal obesity and brain atrophy in type 2 diabetes mellitus', PLoS One, 10, (11) Article e0142589. ISSN 1932-6203 (2015) [Refereed Article]

DOI: 10.1371/journal.pone.0142589 [eCite] [Details]

Citations: Scopus - 23Web of Science - 21

Co-authors: Climie RED; Callisaya M; Blizzard L; Sharman JE; Venn A; Srikanth V

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2014Young A, Berry R, Holloway AF, Blackburn NB, Dickinson JL, et al., 'RNA-seq profiling of a radiation resistant and radiation sensitive prostate cancer cell line highlights opposing regulation of DNA repair and targets for radiosensitization', BMC Cancer, 14 Article 808. ISSN 1471-2407 (2014) [Refereed Article]

DOI: 10.1186/1471-2407-14-808 [eCite] [Details]

Citations: Scopus - 23Web of Science - 22

Co-authors: Young A; Berry R; Holloway AF; Dickinson JL; Phillips JL; Brettingham-Moore KH

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Conference Publication

(1 outputs)
YearCitationAltmetrics
2011Bennett WR, Blackburn NB, King AE, Chung RS, West AK, 'Does metallothionein attenuate mutant SOD1 aggregation in MND', 22nd Symposium on ALS/MND, November 2011, Sydney, Australia (2011) [Conference Extract]

[eCite] [Details]

Co-authors: Bennett WR; King AE; Chung RS; West AK

Grants & Funding

Funding Summary

Number of grants

1

Total funding

$428,000

Projects

Old brain cells perform new tricks to allow life-long learning (2022 - 2024)$428,000
Description
In the brain, nerve cells transmit electrical signals more quickly and reliably when they are insulated. The insulating cells undergo small adaptive changes that speed up information transfer during learning, and the faster the electrical signal, the better the learning outcomes. This project aims to understand the signals that direct insulating cells to adapt and support life-long learning. In the longer term, this knowledge may be used to: develop interventions that improve learning and educational outcomes; counteract age-related memory decline and enable longer work force participation; develop strategies to circumvent the memory loss caused by brain diseases, or improve the design of computer hardware.
Funding
Australian Research Council ($428,000)
Scheme
Grant-Discovery Projects
Administered By
University of Tasmania
Research Team
Young K; Cullen CL; Jolivet R; Blackburn NB
Period
2022 - 2024
Grant Reference
DP220100100

Research Supervision

Dr Blackburn currently co-supervises PhD students across a variety of projects. These projects are primarily embedded in the study of familial genomics, studying either large multigenerational families with complex diseases and phenotypes, or smaller families with specific diseases (such as multiple sclerosis). He supervises both laboratory-based and computationally-based students.

Dr Blackburn is currently looking for students to work across a variety of projects. He is interested in working with undergraduate students looking to gain research experience as well as honours students and PhD students. In particular, students with a strong interest in the computational analyses of genomic data, but also students with a complementing interest in laboratory based methods should reach out to Dr Blackburn.

Research projects are available in studying genetic variation in families with multiple sclerosis using genome sequencing, as well as projects in working with sea turtle fibropapilloma data. Project availability regularly changes so please contact Dr Blackburn by email to discuss the latest projects available.

Current

3

Current

DegreeTitleCommenced
PhDIdentification of Novel Genetic Variants Associated with Cardiovascular Disease Risk2021
PhDSequence Based Gene Identification Using Families2021
PhDHow do Genes Contribute to MS Pathophysiology?2021