Statistical techniques to assess association of novel genetic variants and complex diseases CNVassoc R package
When assessing association of genetic variants measured with uncertainty and complex diseases it is important to use appropriate statistical techniques. On the contrary, it can lead to underpowered and inaccurate results. The main topic of my PhD consisted on developing new and more powerful tools to deal with CNV as well as imputed SNPs.
In 2003 I was graduated in Statistics by the University of Barcelona (UB). In 2005, I got my master’s degree in Science and Statistical Techniques by the Universitat Politècnica de Catalunya (UPC). Finally, in 2014 I finished my PhD at the Statistics Department UB.
Since 2003 I work as statistical advisor on epidemiological studies in the REGICOR group at IMM Research Institute. In my daily work at IMIM I have had the opportunity to apply several techniques learnt during my university education to real data studies, such as follow-up cohorts, clinical trials or population genetic studies. One example is MIGen study which contained thousands of genetic variants that I used for my PhD.
Research looking south: Water science for low income countries and humanitarian scenarios
Regarding the insufficient results Millennium Development Goals after 2015 deadlines, there is an increasing need of new strategies to increase access basic services, like safe water in rural low income regions. Moreover it has been demonstrated that water treatment technologies must be adapted towards sustainability and acceptability for a good adherence among the most needed populations.
My short scientific career have had water science for the “south” and however the difficulties found on the path I would like to expose few results obtained.
Firstly, during my phd I focused on the improvement of a household water treatment technology for viral removal: the black ceramic water filters. During my post doc in Ecuador we’ve implemented this prototype in an Andean community to evaluate its impact of their use.
In the other hand, I’ve also collaborated with different NGOs in a particular problem faced in humanitarian crisis: Hepatitis E Virus outbreaks in refugee camps (Eastern Chad and South Sudan).
Scale-invariant patterning by size-dependent inhibition of Nodal signaling
Scale-invariant patterning guarantees the maintenance of tissue and organ proportions of individuals independently of changes in the size of the organism. We generated smaller zebrafish by removing 30% of their cells at blastula stages and found that these embryos developed into normally patterned individuals. Strikingly, the proportions of all germ layers adjusted to the new embryo size within two hours after cell removal. Since Nodal/Lefty signalling controls germ layer patterning, we performed a computational screen for scale-invariant models of this activator/inhibitor system. This analysis predicted that the concentration of the highly diffusive inhibitor Lefty increases in smaller embryos, leading to a decreased Nodal activity range and contracted germ layer dimensions. In vivo studies confirmed that Lefty levels increased in smaller embryos, and embryos with reduced Lefty concentration or with diffusion-hindered Lefty failed to scale their tissue proportions. These results reveal that size-dependent inhibition of Nodal signalling allows scale-invariant patterning.
Happy New Year to genetics, microbiology and stadistics lovers!
We would like to remind you that you should register before 19th of January!!
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Today we present our preliminary programme! You can download the PDF version in the Programme section!
Responsible Research and Innovation (RRI) intends to align scientific research with the needs and prospects of the society with the support of several stakeholders. RRI estimates the potential connotations and social expectations with regard to research and innovation. In the last few years many efforts have been put to connect science and society and to get public engagement to the different research fields. Therefore, since RRI has become a topic of paramount importance, we are proud to announce that the expert Dr. Itziar Lecuona will give a talk on RRI in the PhD Day. You can find the abstract of the talk in the Programme Section.
We present what is going to be our new logo from now on!! Thanks to Noelia Benetó for her great design!!