'Extreme heterogeneity in genetics and pathology of deafness' Dr Karen Steel, King's College London
4:00 pm to 5:00 pm, 20 November 2017
Adult-onset, progressive hearing loss is very common in the human population but we still know little about the underlying pathology. Over 360 genes are known to be involved in deafness in human or mouse, but the majority of these have early developmental effects, giving few clues to the genetic contribution to adult-onset hearing loss.
- UCL staff | UCL students
Host: Professor John Wood020 7679 6134 (ext.46134)
Cruciform Building B404 - LT2
We set out to identify further genes underlying deafness including those with mild effects using a physiological screen, the Auditory Brainstem Response (ABR), of a large cohort of newly-generated targeted mouse mutants. From the unbiased sample of 1211 genes tested, we found 38 unexpected genes to be involved in hearing impairment. This indicates that around 600 additional genes remain to be found, making deafness an extremely heterogeneous condition with around 1000 genes that may contribute. The 38 genes represent a range of functions from transcription factors and a microRNA to enzymes involved in lipid metabolism. The impairment we found ranged from mild to profound, with a wide range of underlying pathological mechanisms. Several of the mutant lines that we have studied in more detail show normal early development of hearing followed by progressive loss of responses. Our further analysis of one of these will be discussed.
Refreshments will be provided