Project: RNA misprocessing in ALS
Life in the Lab
I am a Neurology registrar and PhD student on the Francis Crick Clinical Fellow programme. I am supervised by Prof Rickie Patani and Prof Nick Luscombe. I am using computational techniques to examine how RNA processing breaks down in ALS by identifying changes in RNA transcripts in both sporadic and familial forms of the disease. The Patani lab have created a stem cell model of human ALS, which we are utilising to understand how changes in RNA processing causes disease. We have uncovered that the earliest detectable change in ALS is failure to accurately remove the non-coding intron sequences (splicing) at the appropriate time points during motor neurone development. However, whether the malfunction of RNA metabolism is a common mechanism across all forms ALS (familial and sporadic) remains to be determined.
Life outside the Lab
I love distance running and Leeds United in equal measure. I am a keen sportsman and was fortunate to travel around the world whilst competing in triathlon.
Camilla Højland Knudsen
Visiting PhD student