Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.

BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. CASE PRESENTATION: In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. CONCLUSIONS: This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities

Surface mineral crusts: A priority target in search for life on Mars

Mineral crusts are strong candidates in the search for evidence of life during planetary exploration, and should be an important target for examination in impact craters. Crusts in the Haughton crater readily yield a biological signature

Impact pressures generated by spherical particle hypervelocity impact on Yorkshire Sandstone

Hypervelocity impact tests were carried out at 4.8 km/s using the Open University's All Axis Light Gas Gun (AALGG) in the Planetary and Space Sciences Research Institute (PSSRI)'s Hypervelocity Impact Laboratory. A first estimate of the peak loading pressures was made using preliminary hydrocode simulations, supported by calculations. Following a review of existing published quartz and sandstone data, our previously published plate impact data were combined with high pressure quartz data to produce a synthetic Hugoniot. This will form the basis of future hydrocode modelling, as a linear Us-Up relationship does not adequately represent the behaviour of sandstone over the pressure range of interest, as indicated by experimental data on Coconino sandstone. This work is a precursor to investigating the biological effects of shock on microorganisms in sandstone targets. This paper also contains the first presentation of results of ultra high speed imaging of hypervelocity impact at the Open University. © 2007 American Institute of Physics

The quest for cradles of life: using the fundamental metallicity relation to hunt for the most habitable type of galaxy

The field of astrobiology has made huge strides in understanding the habitable zones around stars (stellar habitable zones) where life can begin, sustain its existence and evolve into complex forms. A few studies have extended this idea by modeling galactic-scale habitable zones (galactic habitable zones) for our Milky Way (MW) and specific elliptical galaxies. However, estimating the habitability for galaxies spanning a wide range of physical properties has so far remained an outstanding issue. Here, we present a "cosmobiological" framework that allows us to sift through the entire galaxy population in the local universe and answer the question, "Which type of galaxy is most likely to host complex life in the cosmos?" Interestingly, the three key astrophysical criteria governing habitability (total mass in stars, total metal mass and ongoing star formation rate) are found to be intricately linked through the "fundamental metallicity relation" as shown by Sloan Digital Sky Survey observations of more than a hundred thousand galaxies in the local universe. Using this relation we show that metal-rich, shapeless giant elliptical galaxies at least twice as massive as the MW (with a tenth of its star formation rate) can potentially host ten thousand times as many habitable (Earth-like) planets, making them the most probable "cradles of life" in the universe

Remote Sensing of Chiral Signatures on Mars

We describe circular polarization as a remote sensing diagnostic of chiral signatures which may be applied to Mars. The remarkable phenomenon of homochirality provides a unique biosignature which can be amenable to remote sensing through circular polarization spectroscopy. The natural tendency of microbes to congregate in close knit communities would be beneficial for such a survey. Observations of selected areas of the Mars surface could reveal chiral signatures and hence explore the possibility of extant or preserved biological material. We describe a new instrumental technique that may enable observations of this form.Comment: 14 pages, 3 figures; to be published in Planetary and Space Scienc

Dispelling the myth of robotic efficiency: why human space exploration will tell us more about the Solar System than will robotic exploration alone

There is a widely held view in the astronomical community that unmanned robotic space vehicles are, and will always be, more efficient explorers of planetary surfaces than astronauts (e.g. Coates, 2001; Clements 2009; Rees 2011). Partly this is due to a common assumption that robotic exploration is cheaper than human exploration (although, as we shall see, this isn't necessarily true if like is compared with like), and partly from the expectation that continued developments in technology will relentlessly increase the capability, and reduce the size and cost, of robotic missions to the point that human exploration will not be able to compete. I will argue below that the experience of human exploration during the Apollo missions, more recent field analogue studies, and trends in robotic space exploration actually all point to exactly the opposite conclusion.Comment: 12 pages; 5 figures. Published, with minor modifications, in Astronomy and Geophysics, Vol. 53, pp. 2.22-2.26, 201

Abundant and equipotent founder cells establish and maintain acute lymphoblastic leukaemia

High frequencies of blasts in primary acute lymphoblastic leukaemia (ALL) samples have the potential to induce leukaemia and to engraft mice. However, it is unclear how individual ALL cells each contribute to drive leukaemic development in a bulk transplant and the extent to which these blasts vary functionally. We used cellular barcoding as a fate mapping tool to track primograft ALL blasts in vivo. Our results show that high numbers of ALL founder cells contribute at similar frequencies to leukaemic propagation over serial transplants, without any clear evidence of clonal succession. These founder cells also exhibit equal capacity to home and engraft to different organs, although stochastic processes may alter the composition in restrictive niches. Our findings enhance the stochastic stem cell model of ALL by demonstrating equal functional abilities of singular ALL blasts and show that successful treatment strategies must eradicate the entire leukaemic cell population

Ethics for an uninhabited planet

Some authors argue that we have a moral obligation to leave Mars the way it is, even if it does not harbour any life. This claim is usually based on an assumption that Mars has intrinsic value. The problem with this concept is that different authors use it differently. In this chapter, I investigate different ways in which an uninhabited Mars is said to have intrinsic value. First, I investigate whether the planet can have moral standing. I find that this is not a plausible assumption. I then investigate different combinations of objective value and end value. I find that there is no way we can know whether an uninhabited Mars has objective end value and even if it does, this does not seem to imply any moral obligations on us. I then investigate whether an uninhabited Mars can have subjective end value. I conclude that this is very plausible. I also investigate whether an uninhabited Mars can have objective instrumental value in relation to some other, non-Mars related end value. I find also this very plausible. It is also highly plausible, however, that spreading (human or other) life to a presently uninhabited Mars can also have subjective end value, as well as objective instrumental value. I mention shortly two ways of prioritising between these values: (1) The utilitarian method of counting the number of sentient beings who entertain each value and determining the strength of the values to them. (2) Finding a compromise that allows colonisation on parts of the planet while leaving other parts untouched. These methods should be seen as examples, not as an exhaustive list. Also, I do not take a definitive stand in favour of any of the two approaches, though it seems at least prima facie that the second approach may have a better chance of actually leading to a constructive result

STONE 6: Artificial Sedimentary Meteorites in Space

The STONE 6 experiment demonstrated the survivability of carbonaceous and microfossiliferous martian analogue sediments during atmospheric re-entry. Doped endoliths died but their carbonised cells remained