Question: Thanks for answering my question on the problems caused by ribosomes. I see that you mentioned Diamond Blackfan Anaemia, is this of particular interest or is there any other diseases that you are researching?

Loren Macdonald answered on 20 Jun 2014:

Hello, thanks for the question.

This is one of the diseases that our lab studies, yes. We are particularly interested in a group of diseases known as ribosomopathies- which are just diseases of ribosome dysfunction. There are many others such as 5q syndrome, Dyskeratosis Congenita and Treacher Collins Syndrome. The most common problem in these disorders is blood related, usually some sort of anaemia- which is interesting to us because you would assume that as every cell has ribosomes, it should affect everything. We think it’s because red blood cell production requires a lot more ribosomes in a short space of time than a lot of other cells. Some cancers- specifically blood cancers- have also been linked to ribosomes.

More recently, however, ribosomes have also been liked to brain related diseases as well such as Alzheimers and Parkinsons. As these are big areas of research, this is also of interest because they are always looking for new ways to combat these diseases. And we don’t really know what other diseases ribosomes might end up being important for.

Our lab looks mostly at the first subset of ribosomopathies. I look at Diamond Blackfan Anaemia mostly but other people in the lab look at different ones such as Dyskeratosis Congenita and Treacher Collins Syndrome.