Opening a new window to other worlds with spectropolarimetry

A high level of diversity has already been observed among the planets of our own Solar System. As such, one expects extrasolar planets to present a wide range of distinctive features, therefore the characterisation of Earth- and super Earth-like planets is becoming of key importance in scientific research. The SEARCH (Spectropolarimetric Exoplanet AtmospheRe CHaracerisation) mission proposal of this paper represents one possible approach to realising these objectives. The mission goals of SEARCH include the detailed characterisation of a wide variety of exoplanets, ranging from terrestrial planets to gas giants. More specifically, SEARCH will determine atmospheric properties such as cloud coverage, surface pressure and atmospheric composition, and may also be capable of identifying basic surface features. To resolve a planet with a semi major axis of down to 1.4AU and 30pc distant SEARCH will have a mirror system consisting of two segments, with elliptical rim, cut out of a parabolic mirror. This will yield an effective diameter of 9 meters along one axis. A phase mask coronagraph along with an integral spectrograph will be used to overcome the contrast ratio of star to planet light. Such a mission would provide invaluable data on the diversity present in extrasolar planetary systems and much more could be learned from the similarities and differences compared to our own Solar System. This would allow our theories of planetary formation, atmospheric accretion and evolution to be tested, and our understanding of regions such as the outer limit of the Habitable Zone to be further improved.Comment: 23 pages, accepted for publication in Experimental Astronom

Meeting on data sharing for Duchenne 21-22 March 2019 Amsterdam, the Netherlands

Molecular Technology and Informatics for Personalised Medicine and HealthFunctional Genomics of Muscle, Nerve and Brain Disorder

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

none29siHelsmoortel-Van der Aa syndrome (HVDAS) is a neurodevelopmental condition associated with intellectual disability/developmental delay, autism spectrum disorder, and multiple medical comorbidities. HVDAS is caused by mutations in activity-dependent neuroprotective protein (ADNP). A recent study identified genome-wide DNA methylation changes in 22 individuals with HVDAS, adding to the group of neurodevelopmental disorders with an epigenetic signature. This methylation signature segregated those with HVDAS into two groups based on the location of the mutations. Here, we conducted an independent study on 24 individuals with HVDAS and replicated the existence of the two mutation-dependent episignatures. To probe whether the two distinct episignatures correlate with clinical outcomes, we used deep behavioral and neurobiological data from two prospective cohorts of individuals with a genetic diagnosis of HVDAS. We found limited phenotypic differences between the two HVDAS-affected groups and no evidence that individuals with more widespread methylation changes are more severely affected. Moreover, in spite of the methylation changes, we observed no profound alterations in the blood transcriptome of individuals with HVDAS. Our data warrant caution in harnessing methylation signatures in HVDAS as a tool for clinical stratification, at least with regard to behavioral phenotypes.noneBreen M.S.; Garg P.; Tang L.; Mendonca D.; Levy T.; Barbosa M.; Arnett A.B.; Kurtz-Nelson E.; Agolini E.; Battaglia A.; Chiocchetti A.G.; Freitag C.M.; Garcia-Alcon A.; Grammatico P.; Hertz-Picciotto I.; Ludena-Rodriguez Y.; Moreno C.; Novelli A.; Parellada M.; Pascolini G.; Tassone F.; Grice D.E.; Di Marino D.; Bernier R.A.; Kolevzon A.; Sharp A.J.; Buxbaum J.D.; Siper P.M.; De Rubeis S.Breen, M. S.; Garg, P.; Tang, L.; Mendonca, D.; Levy, T.; Barbosa, M.; Arnett, A. B.; Kurtz-Nelson, E.; Agolini, E.; Battaglia, A.; Chiocchetti, A. G.; Freitag, C. M.; Garcia-Alcon, A.; Grammatico, P.; Hertz-Picciotto, I.; Ludena-Rodriguez, Y.; Moreno, C.; Novelli, A.; Parellada, M.; Pascolini, G.; Tassone, F.; Grice, D. E.; Di Marino, D.; Bernier, R. A.; Kolevzon, A.; Sharp, A. J.; Buxbaum, J. D.; Siper, P. M.; De Rubeis, S