Auto-tuned thermal control on stratospheric balloon experiments

Balloon-borne experiments present unique thermal design challenges, which are a combination of those present for both space and ground experiments. Radiation and conduction are the predominant heat transfer mechanisms with convection effects being minimal and difficult to characterize at 35-40 km. This greatly constrains the thermal design options and makes predicting flight thermal behaviour very difficult. Due to the limited power available on long duration balloon flights, efficient heater control is an important factor in minimizing power consumption. SuperBIT, or the Super-Pressure Balloon-borne Imaging Telescope, aims to study weak gravitational lensing using a 0.5m modified Dall-Kirkham telescope capable of achieving 0.02" stability1 and capturing deep exposures from visible to near UV wavelengths. To achieve the theoretical stratospheric diffraction-limited resolution of 0.25",2 mirror deformation gradients must be kept to within 20 nm. The thermal environment must be stable on time scales of an hour and the thermal gradients on the telescope must be minimized. During its 2018 test-flight, SuperBIT will implement two types of thermal parameter solvers: one for post-flight characterization and one for in-flight control. The payload has 85 thermistors as well as pyranometers and far-infrared sensors which will be used post-flight to further understand heat transfer in the stratosphere. This document describes the in-flight thermal control method, which predicts the thermal circuit of components and then auto-tunes the heater PID gains. Preliminary ground testing shows the ability to control the components to within 0.01 K

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. Here, we used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome. The clinical profile of this disease includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females. SPEN also emerges as a relevant gene for del1p36 syndrome by co-expression analyses. Finally, we show that haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females, providing further evidence of a specific contribution of the protein to the epigenetic control of this chromosome, and a paradigm of an X chromosome-specific episignature that classifies syndromic traits. We conclude that SPEN is required for multiple developmental processes and SPEN haploinsufficiency is a major contributor to a disorder associated with deletions centromeric to the previously established 1p36 critical regions