2014 was a very exciting year for us. From novel findings, to starting great new collaborations, to improving our online presence, 2014 had a little bit of everything. Below are our top highlights from this past year.
Dementia with Lewy Bodies
In 2014 we had a fantastic start in the field of DLB: Jose was awarded a prestigious fellowship from the Alzheimer’s Society to study the genetics of DLB; we published the first large scale genetic paper based on neuropathologically-proven DLB cases (work that was funded by the Lewy Body Society in collaboration with Parkinson’s UK); and finally, we were invited to be part of a small group of researchers that met at the legendary Banbury Conference Center to discuss the next steps in the research field of DLB. All in all, this was a great year for our work in DLB.
Henry Stewart Talks
In early 2014 we were invited to participate in a Series from the Henry Stewart Talks. The Series was focused on “The Genetic Basis of Neurological Disorders”; Jose talked about methodologies used in genomics while Rita focused her talk on recent genetic findings in Alzheimer’s disease. It was a real pleasure to collaborate with HST in this project and we think the final result of the Series with all talks is really top-notch.
Vasculopathies and ADA2
In 2014 we published once again in the New England Journal of Medicine where we described the expansion of the phenotype attributed to mutations in the gene CECR1. We were able to use the most recent technologies to elucidate the molecular basis of a rare phenotype, for which no cause had been previously found. This was a very exciting piece of work, not only because it was published in NEJM, but also because it stemmed from a very productive collaboration with the clinical team at the University of Coimbra Hospital.
Redefining Clinical and Molecular Associations
In September 2014 we published a review in Human Molecular Genetics, which we think is important for a variety of fields. Here, we discussed and highlighted a series of recent findings showing that diseases should be defined by molecular data and not simply by clinical phenotype. There are many examples of unexpected presentations for mutations in known disease genes, and we think these findings will only increase over the next few years as more data is generated.
NeuroGenetics Papers TwitterBot
Keeping track of the scientific literature from one’s area of study is not always a simple task. In fact, most often than not, this is very difficult to do given the relentless rate of new publications. To try to overcome this issue, we created a twitterbot that continually searches PubMed for new publications in the field of neurogenetics/neurodegeneration and delivers these to a person’s twitter feed. We have found this twitterbot to be incredibly useful and we know others have found the same. Receiving interesting papers on your twitter feed is much less disruptive than receiving them on your email. And if you are away from twitter for a few days, we also created a Tumblr with all papers our twitterbot finds, so that these can be easily browsed and searched for.
The American Society of Human Genetics Meeting
In 2014 we attended the ASHG meeting in San Diego. In addition to attending the conference we also live-tweeted the sessions we saw. This was the first time we live-tweeted a conference and it was an incredibly rewarding experience. Our tweets reached an average of 17k people per day with a total of 93k people potentially seeing our tweets during the conference. We received great feedback, not only from several of our followers on Twitter, but also from ASHG itself.
2014 was great, but we are looking forward to an even greater 2015. Onwards and upwards!