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Translational Genomics

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We work at the interface of research and translation, with many ongoing clinical collaborations. We rely on experimental and computational genomics to advance our translational research but do not shy away from other approaches.

 

We also contribute to the academic leadership of the Genomic Medicine Theme in the NIHR GOSH Biomedical Research Centre (BRC), and have a growing interest in the impact of AI to genomic diagnosis and treatment. Further, we contribute to genomic services, providing academic leadership to UCL Genomics, the GOSH BRC CRISPR Centre and the Genomics Science Technology Platform at UCL. Finally, we teach computational genomics in our MSc in Personalised Medicine and Novel Therapies.

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We also occasionally provide consultations on all things genomics.

 

If you are interested in what we do, please check our job openings or consider applying to a fellowship with us.

Research Interests

We are interested in accelerating the diagnosis, prognosis, treatment and modelling of various rare diseases and cancers in children. To this end, we leverage established and novel genomic technologies and their computational analysis, to explore new clinical possibilities.

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We are particularly keen on translational approaches at single-cell and spatial resolution, which we apply to assess disease heterogeneity and the quality of new disease models, tissues and organs. AI has become increasingly important for this. We also assess genomic risks from new therapies, including the unwanted acquisition of deleterious mutations when engineering new tissues, editing genomes or introducing new genes. Further, we apply population genomics and support metagenomic approaches to understand micronutrient deficiencies in global health as well as infection.

 

In this regard, we have supported the tracking of mutations in the spread of COVID-19 in the UK, through genomic sequencing. 

Selected Publications

Sanchez-Corrales et al.

Spatially resolved fetal and maternal cell contributions to severe preeclampsia

bioRxiv 

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Budinger et al.

An in vivo and in vitro spatiotemporal atlas of human midbrain development

bioRxiv​​​

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Rees, Castellano and Andres

Global impact of micronutrients in modern human evolution

American Journal of Human Genetics (2025)​​​​​

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News in Grimmet J

How micronutrients have shaped human DNA

Cell Press (2025)

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Puigdevall et al.

Somatic mutations alter the differentiation outcomes of iPSC-derived neurons

Cell Genomics, 3, 100280 (2023)

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Morfopoulou et al.

Genomic investigations of acute hepatitis of unknown aetiology in children

Nature, 617, 564–573 (2023)​​

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News in Kaiser J

Mystery hepatitis cases in kids linked

to unexpected viral suspect

Science (2022)

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Volz et al. (including COG-UK)

Evaluating the effects of SARS-CoV-2 spike mutation D614G on transmissibility and pathogenicity

Cell184, 64-75 (2021)​

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The COVID-19 Genomics UK consortium (COG-UK)

An integrated national scale SARS-CoV-2 genomic surveillance network

The Lancet Microbe, 1, e99–e100 (2020)

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Comment in Nelson MI

Tracking the UK SARS-CoV-2 outbreak

Science, 371, 680-681 (2021)

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Comment in Lo SW and Jamrozi D

Genomics and epidemiological surveillance

Nature Reviews Microbiology, 18, 478 (2020)

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Sarangi et al.

Distinct Patterns of Selection in Selenium-Dependent Genes between Land and Aquatic Vertebrates

Molecular Biology and Evolution, 35, 1744-1756 (2018)

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Rees, Castellano and Andrés

The Genomics of Human Local Adaptation

Trends in Genetics, 36, 415-428 (2018)

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De Manuel et al.

Chimpanzee genomic diversity reveals ancient admixture with bonobos

Science354, 477-481 (2016)​​

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Comment in Hoelzel AR.

The road to speciation runs both ways

Science354, 414-415 (2016)

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News in Pennisi E.

Chimps and bonobos had flings

—and swapped genes—in the past

Science (2016)​

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Mendez, Poznik, Castellano and Bustamante

The divergence of Neandertal and modern human Y chromosomes

The American Journal of Human Genetics, 98, 728-734 (2016)

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News in Gibbons A

Modern human females and male Neandertals

had trouble making babies. Here’s why

Science (2016)

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Kuhlwilm et al.

Ancient gene flow from early modern humans into Eastern Neanderthals

Nature, 530, 429-433 (2016)

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News in Gibbons A

Humans mated with Neandertals much earlier

and more frequently than thought

Science (2016)

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News in Callaway A

Evidence mounts for interbreeding bonanza

in ancient human species

Nature (2016)

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White et al.

Genetic adaptation to levels of dietary selenium in recent human history

Molecular Biology and Evolution, 32, 1507-1518 (2015)

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Lazaridis et al.

Ancient human genomes suggest three ancestral populations for present-day Europeans

Nature513, 409-413 (2014)

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News in Callaway A

Ancient European genomes reveal jumbled ancestry

Nature (2014)

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Castellano et al.

Patterns of coding variation in the complete exomes of three Neandertals

PNAS111, 6666-6671 (2014)​

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Fu et al.

A revised timescale for human evolution based on ancient mitochondrial genomes

Current Biology23, 553-559 (2013)​​​​

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Comment in Green RE and Shapiro B

Human Evolution: Turning Back the Clock

Current Biology23, R286-R288 (2013)

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Castellano et al.

Low exchangeability of selenocysteine, the 21st amino acid, in vertebrate proteins

Molecular Biology and Evolution, 26, 2031-2040 (2009)​

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Castellano et al.

Diversity and functional plasticity of eukaryotic selenoproteins: Identification and characterization of the SelJ family

PNAS, 102, 16188-16193 (2005)​​​

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Comment in Stillwell, RJ and Berry MJ

Expanding the repertoire of the

eukaryotic selenoproteome

PNAS102, 16123-16124 (2005)

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International Chicken Genome Sequencing Consortium

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

Nature, 432, 695-716 (2004)​​

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Comment in Schmutz J and Grimwood J

Fowl sequence

Nature, 432, 679-680 (2004)

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Jaillon et al.

Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotype

Nature, 431, 946-957 (2004)​​​

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Comment in Mulley J and Holland P

Small genome, big insights

Nature, 431, 916-917 (2004)

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Castellano et al. 

Reconsidering the evolution of eukaryotic selenoproteins: A novel nonmammalian family with scattered phylogenetic distribution

EMBO Reports, 5, 71-77 (2004)

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Comment in Driscoll DM and Chavatte L

Finding needles in a haystack: In silico identification

of eukaryotic selenoprotein genes 

EMBO Reports, 5, 140-141 (2004)

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Kryukov et al.

Characterization of mammalian selenoproteomes

Science, 300, 1439-1443 (2003)

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Castellano et al.

In silico identification of novel selenoproteins in the Drosophila melanogaster genome

EMBO Reports, 2, 697-702 (2001)

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Contact

Contact
Information

Sergi Castellano

Genetics and Genomic Medicine Department
Great Ormond Street Institute for Child Health

UCL

Zayed Centre for Research into Rare Disease in Children

20 Guilford Street

London, WC1N 1DZ, UK

Office 2.1

+44 (0) 203 978 3753

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©2025 by Sergi Castellano

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