Oni Chowdhury has been awarded an NIHR clinical lectureship. This will enable Oni to incorporate the remainder of her specialist clinical training with research. She will be working on the therapeutic targeting of malignant stem cells with the Stem Cell Group in the WIMM.
Chris Babbs has been awarded a 3 year project grant, funded by Action Medical Research for Children, to identify new alleles and genes underlying Congenital Dyserythropoietic Anaemia type I, a variable anaemia that manifests in childhood. Coding mutations in the genes previously shown to underlie this disease explain only ~60% of cases, strongly suggesting the presence of occult pathogenic alleles or the involvement of a further locus. Identification of further genetic lesions will improve molecular diagnosis and is likely to shed light on the pathogenic mechanism underlying this disorder. The defining cellular characteristic of this anaemia is abnormal chromatin formation in erythroblast nuclei, suggesting that all causative mutations affect a pathway critical for chromatin assembly or compaction in maturing erythroblasts. By introducing specific mutations into induced pluripotent stem cells we hope to shed light on the pathogenic mechanism and establish a high throughput screening system to test small molecules as potential therapy for this disorder.
Congratulations to both of them.