Many congratulations to Rosa Rademakers from Mayo Clinic Florida USA, winner of this year’s Paulo Gontijo Young Investigator award. She won the award for her work on co-discovering the gene defect in C9orf72.
As part of her prize (in addition to a medal and a cheque to continue her work) she gave an overview of the research at the opening session of the 23rd International Symposium on ALS/MND. The story was one of looking in some unusual places as well as all the obvious places to locate a gene defect had been thoroughly searched by researchers around the world. Dr Mariely DeJesus Hernandez in Dr Rademakers lab spotted something odd about the way the C9orf72 gene was inherited from the respective parents of someone with MND. She should’ve seen the copy from the mother and the copy from the father, but using their usual laboratory experiment, a copy of the gene from one of the parents wasn’t found.
One explanation for this unusual finding was that there was a ‘repeat’ sequence – that the experiment she’d run wasn’t set up to find. So, thanks to all the previous reports in the literature, Dr Rademakers and colleagues tried a lab experiment that other people had used to detect repeat sequences in other (ie non-MND) diseases. Use of this new lab experiment led to them identifying the presence of a long repeat in people with MND but not in unaffected people.
After a brief history of the discovery of this important gene defect, Dr Rademakers went on to give an overview of research around the world. It was interesting to see that this has worldwide significance. She showed a graph representing the percentage of cases of people with a family history of MND where C9orf72 had been discovered. The bottom line was that C9orf72 repeats are found in 34% of people who had MND with a family history of the disease and in 26% of people who had FTD with a family history of the disease.
But although much has been achieved in identifying this gene defect and the colossal amount of work worldwide since its discovery, in her final slide, Dr Rademakers reminded us that there’s much still to be done. For every concluding comment there was a list of two or three questions that the new information provoked.
This talk was an excellent starting point for a topic that was and will be repeated many times (pun intended) through the International Symposium.
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