Live at Covent Garden – the ERC Starting Grant Interviews

On stage. I just got back from Brussels where I had to defend my ERC Starting Grant in front of the Neuroscience Panel. The European Research Counsil (ERC) Starting Grants are prestigious excellence grants and I was lucky enough to be invited for the famous second round. This second round requires the applicants to go to Brussels in order to give a 10-15 min presentation and defend the application on the 24th floor of the Covent Garden building. It provides a wonderful view of the city, but nobody really bothered taking this in. Let’s use the opportunity to quickly discuss grants, funding and the future of epilepsy genetics. Continue reading

Dealing with the genetic incidentaloma – the ACMG recommendations on incidental findings in clinical exome and genome sequencing

Clinical genome sequencing. While exome and genome sequencing is widely used as a research tool, these technologies are also routinely applied in a clinical setting. As with many other data-rich diagnostic tests in medicine, there is an ongoing question on how to deal with potentially relevant findings that turn up indicentally. Now the American College of Medical Genetics and Genomics (ACMG) has released their long-expected recommendations on data return of incidental findings in clinical exome and genome sequencing. Their recommendations provide an interesting basis for discussion on what to do with genetic findings that are found by chance. Continue reading

What would my exome tell about me – a birth announcement

La famiglia. As you might already know, our family expanded two weeks ago with the arrival with our newborn son. Mother and baby are well and happy. As with all other newborns in Germany, our son got a heel stick on his third day of life for newborn screening. When my parents visited the following weekend and the kids were in bed one evening, we eventually ended up talking about screening, genome, disease and the possibility to make predictions from your genetic data. Therefore, looking forwards on life from the perspective of a newborn, what could we learn from exome/genome data and do we want to know it? Continue reading

The 16p11.2 microdeletion: assessing the phenotypic range

The 16p11.2 story. Among the various microdeletion and microduplication syndromes located on human chromosome 16, the 16p11.2 microdeletion has unique position. Historically, this microdeletion was the first of the “neurodels” to be identified through association studies in autism, where it can be identified in 0.5% of patients. However, there is more to the phenotypes of the 16p11.2 microdeletion, which is now addressed in a recent paper assessing the full phenotypes in 72 microdeletion carriers. 16p11.2 therefore represents one of the best-investigated microdeletions to date. Continue reading

Face to face – atypical face shape and CNVs in epilepsy

Face scan. A large high-tech camera scans your face in 3D and – using more than 30,000 data points – extracts information from your face that you were not aware of including details of your genetic make-up. What sounds like dystopic Gattaca-like science fiction at first is actually an interesting novel technique to learn more about epilepsy-related microdeletions. It seems that some of their effects might be hidden in subtle facial features that might help understand how these genetic variants contribute to disease. Continue reading

15q11.2 – the microdeletion spectre

Genetic mirage. We look at genetic variants all the time. There are few genetic variants that stare back at us. 15q11.2 is one these variants, facing us with the constant question how we define and perceive genetic risk. Not because of its pathogenicity, but because of the confusion that it causes. Continue reading

Charting a bioethical gray zone: genotype-driven research recruitment

The need for re-contact. Genotype-driven research recruitment refers to the inclusion of research participants in future genetic studies based on the findings from previous studies.  For example, deep sequencing efforts within the EuroEPINOMICS Consortium may generate potentially interesting novel variants that warrant further investigation.  In some cases, it might be necessary to obtain more phenotypic information, in other cases, segregation in the family might be of interest.  Since many variants are rare in the general population, genotype-driven approaches are particularly attractive, i.e. research participants are selected based on genetic findings.  This so-called “bottom up” approach allows for targeted studies without the time-consuming and expensive step of re-screening large patient cohorts.  In the future, genotype-driven research efforts will likely become increasingly common, since it is unlikely that large-scale genomic studies alone will be able to sufficiently characterize rare genetic variants.  However, approaching patients based on genetic research data raises important questions. Continue reading

Next Generation Ethics: Struggling with petabyte consent forms

Everyone involved in research with human subjects knows about the importance of informed consent.  The purpose of informed consent is to promote educated decision-making and voluntary participation in research.  Whether or not you’re aware of the fundamental ethical principles underlying the process (patient autonomy and protection from harm, for those keeping score at home), you at least know that you have to get the study participant to sign the form. Continue reading