Christian Babbs
BSc (Hons) DPhil
Head of Genome Engineering
Researching the genetic basis of anaemia, alpha-globin gene regulation and haemoglobin switching.
I lead the Geneome Engineering, Transgenics and Virus Production facility at the WIMM. We generate all reagents for genome engineering. We also modify embryonic stem cells and 1-cell embryos for rapid production of model systems. I also have a research interest in the genetic causes of anaemia, specifically the anaemia termed CDA-I.
Genetic Causes of Anaemia
Anaemia results from the failure of adequate production of red blood cells in the bone marrow or insufficient production of the oxygen carrying metalloprotein haemoglobin. This can be a distressing condition and I am a board member and supporter of the charity The Congenital Anaemia Network. Currently ~60% of patients with congenital anaemia remain without a genetic diagnosis and part of my research utilises next generation sequencing technologies to identify novel causative variants and broaden the diagnostic range for these disorders. As part of this work I have identified a novel gene, C15ORF41, underlying a type of anaemia termed Congenital Dyserythropoietic Anaemia type I (CDA-I) (Babbs et al., 2013).
Only one other gene is known to underlie CDA-I, CDAN1 encoding the protein Codanin-1. Both C15ORF41 and Codanin-1 are widely expressed and highly conserved yet when either is mutated phenotypic abnormalities are present only in red blood cells. We are building on evidence that Codanin-1 and C15ORF41 interact and play a role in a novel pathway affecting DNA replication or chromatin assembly. We are working to identify the other proteins involved in this pathway in normal erythropoiesis and how, when perturbed, it leads to the specific abnormalities seen in CDA-I.
Key publications
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ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Babbs C. et al, (2020), J Med Genet, 57, 414 - 421
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De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Babbs C. et al, (2014), J Med Genet, 51, 737 - 747
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Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
Babbs C. et al, (2013), Haematologica, 98, 1383 - 1387
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Genetic dissection of the α-globin super-enhancer in vivo.
Hay D. et al, (2016), Nat Genet, 48, 895 - 903
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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC. et al, (2015), Nat Genet, 47, 717 - 726
Recent publications
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The α-globin super-enhancer acts in an orientation-dependent manner.
Kassouf MT. et al, (2025), Nat Commun, 16
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Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.
Harteveld CL. et al, (2024), Int J Mol Sci, 25
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Haemoglobin Bart's Hydrops Fetalis: Charting the Past and Envisioning the Future.
Amid A. et al, (2024), Blood
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Super-enhancers include classical enhancers and facilitators to fully activate gene expression.
Blayney JW. et al, (2023), Cell, 186, 5826 - 5839.e18
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT. et al, (2023), Genome Med, 15
ORCID
0000-0002- 1898-5878