Borg Group
Blood, genetics & space bioscience
Blood, Globins & Molecular Genetics
Led by Professor Joseph Borg at the University of Malta, our group studies how red blood cells develop, how globin genes switch, and how inherited variation changes their expression.
Our research connects blood and globin biology, molecular genetics and space bioscience. We combine human family studies, erythroid cell models and multiomics to investigate gene regulation and inherited blood disorders.
Rooted in Malta and connected to an international scientific community.
Research programme
GLOBINS & ERYTHROPOIESIS
Our work on KLF1 and hereditary persistence of fetal haemoglobin connects rare Maltese family phenotypes with red-cell gene regulation. The 2010 Nature Genetics study established KLF1 haploinsufficiency as a cause of HPFH. Subsequent work investigates the wider erythroid phenotype and the chromatin landscape of primary human erythroblasts.
MOLECULAR GENETICS & GENOMICS
Genome sequencing, transcriptomics and variant resources connect inherited variation with biological function. Contributions include the 2011 Nature Genetics microattribution study, updates to HbVar, haemoglobinopathy modifiers and pharmacogenomic analyses.
SPACE BIOSCIENCE
Our international collaborations extend molecular genetics into space bioscience. Research includes globin-gene expression in astronaut blood and plasma (Nature Communications, 2024), host–microbiome multiomics (Nature Microbiology, 2024), and the Maleth diabetic-foot-ulcer microbiome study. A Nature review of space omics places this collaborative work in its wider research context.
EXPLORE THE EVIDENCE
The Globin Switch Atlas brings together Maltese family measurements, published human and mouse models, mechanistic evidence and a discovery timeline spanning 1962–2026. It distinguishes observations, experimental mechanisms and remaining hypotheses.
Explore the verified publication index →
The figures alongside illustrate the established KLF1–BCL11A connection and broader erythroid effects of KLF1 variants; they are historical schematics rather than a complete map of globin regulation.
Figure 1: The effect of KLF1 on gamma- to beta- globin gene switching (a) in a normal KLF1 sufficient environment (b) in a mutant KLF1 deficient environment
