2015 was a fantastic year; below is a roundup of some of our top moments (and you can find our Annual Report here). A lot has happened this year, despite the fact that, in some ways, this was mostly a transition time for us.
This year we have doubled in size. Our group is now comprised of a core of 6 people, with additional visiting/rotating students. This has allowed us to expand projects and to get started on some new ideas. More importantly, we have been lucky enough to find really smart and great people that share our passion for neurogenetics. With the increase in size, we recognised that we need different ways to discuss the literature as it was being published. Simple emails wouldn’t cut it anymore. On the other hand, we always thought that the classical format of journal clubs, sometimes, meant a significant time commitment with little positive consequences. So, we have opted for a different approach. We created a Google+ community where we do online journal clubs. We all write up paper discussions and we can all comment on the paper, creating a great place to discuss and store our comments (in searchable format). Since everyone receives notifications every time a comment is made, we can all be actively engaged on every discussion; and if the subject isn’t that interesting, or the timing of the discussion isn’t that great, we can just dismiss it and come back to it at a later time. Lastly, 2015 was the year that both Jose and Rita became tenured faculty at UCL. This is clearly a milestone for us and we are delighted about it.
Awards and Recognition
This year was fantastic in terms of recognition of the work we have been developing. Largely based on our findings in TREM2 and Alzheimer’s disease, Rita was awarded the European Grand Prix for Young Researcher-SCOR by the the Foundation pour la Recherche sur Alzheimer, the Alzheimer’s Society Dementia Leaders Award under the Academic Achievement category and the Neuroscience Prize 2015 from the Fondazione Gino Galletti. Last but not least, Rita was awarded a competitive and prestigious Senior Research Fellowship from the Alzheimer’s Society.
Dementia with Lewy Bodies
The last couple of years have seen a significant increase in interest in DLB. We have published the first large-scale genetic study last year and followed that on with work this year showing the heritability of DLB and the genetic correlation of DLB with Parkinson’s and Alzheimer’s diseases. We were awarded grants to continue our studies of the genetics of DLB by both the Lewy Body Society and Parkinson’s UK. This was also the year where we had the International DLB Conference. This was a fantastic conference devoted solely to DLB and had >350 attendees. We had the opportunity to showcase much of the work we have been doing – Jose was invited to give the plenary on genetics and we also presented two posters with recent data. For a great overview of the conference see Alzforum’s coverage here with the genetics featured in the 6th part. Lastly, this year we have also become part of the Lewy Body Society’s Specialist Advisory Board.
In terms of publications this was a great year for us as well. We completed our trilogy of Cell SnapShots with the genetics of Parkinson’s, ALS and FTD following the initial Alzheimer’s SnapShot. We also published the paper describing the genotyping array we built, together with Illumina (NeuroX), that is the ideal tool for genetic studies in neurological disease. We found a novel gene underlying a form of ataxia with oculomotor apraxia (AOA4) by studying a homogeneous population cohort from Portugal. The gene is called PNKP; from the population data we estimate that mutations in PNKP are the most common cause of AOA in Portugal and that AOA4 is the second most common form of recessive ataxia in Portugal following Friedrich’s ataxia. In Parkinson’s disease, and after observing a large number of early-onset sporadic PD cases in our series, we hypothesised, and eventually published data, suggesting a mechanism of genetic variability (de novo mutations) that might be responsible for a portion of these cases. Lastly, Jose co-edited a book on the genetics of movement disorders, which brought together worldwide leading experts in the field. This was a great project and the final product is excellent.
2015 was a fantastic year, but we are looking forward to an even greater 2016. Onwards and upwards!