Warmest congratulation to Dr Marka van Blitterswijk of the Mayo Clinic in Jacksonville, Florida, winner of this year’s Paulo Gontijo Prize in Medicine.
The Award is presented to an outstanding young investigator working on ALS/MND, with judging based on the significance of a recent scientific paper published by each applicant, plus an evaluation of the relevance and impact of their career to date. I have had the pleasure of serving on the Judging Committee, Chaired by Prof Mamede de Carvahlo, since 2011 and each year the competition gets tougher and tougher. It is so heartening to see the increasing number of excellent young scientists dedicating their careers to the fight.
Dr van Blitterswijk is well known within ALS/MND research circles, going back to her PhD project in Utrecht in 2011, where she and colleagues were the first to show that changes in more than one disease gene were present in a proportion of familial cases of the disease. This finding provided the first evidence for ‘oligogenicity’ (combinations of several altered genes contributing to disease) in ALS – a finding which has served as a catalyst to the large-scale genetic studies such as Project MinE.
She has also shown that variants in genes such as ATXN2 and TMEM106B can act as ‘modifers’ of disease in ALS or Frontotemporal Dementia (FTD). In other words, factors that can influence what age the disease manifests, what symptoms occur and how quickly – or slowly – it progresses.
She currently leads a team of researchers working on the C9orf72 forms of ALS and FTD, seeking to understand disease variability. Why is it that this gene can lead to either disease (or indeed both) and how do other factors affect the age of onset or speed of disease progression?
She has found that levels of one particular variant of an RNA molecule, produced by reading the C9orf72 gene instructions, is associated with survival. She has also shown that RNA Foci – one of the classical ‘cellular hallmarks’ of C9of72 patients – does not follow the pattern of clinical changes, so is not the key factor underpinning this clinical variability between individuals.
There is a more complicated story to unpick, involving a combined effect of multiple factors. Understanding these factors will have implications for the development of therapeutic approaches targeting C9orf72, but hopefully also all forms of the disease.
Speaking of her award, she said: “It is a tremendous honour to be selected as the winner of the 9th IPG Prize in Medicine. Many of my predecessors are renowned researchers, which makes me feel extremely humble. I will continue to do my utmost to help ALS patients and I sincerely hope that my research will aid in improving our understanding of ALS and related disorders.”
Dr van Blitterswijk stressed that research really is a team effort and paid tribute to colleagues and mentors past and present.
Looking to the future, she said: “I do think it’s an exciting time for ALS research. We have made considerable progress and I am confident that this will lead to the development of urgently needed biomarkers and effective treatment strategies in the near future.”
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