Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy. Eight years after this workshop, we surveyed 22 registries collecting information on myotonic dystrophy patients to assess the proliferation and utility the dataset agreed in 2009. These registries represent over 10,000 myotonic dystrophy patients worldwide (Europe, North America, Asia and Oceania).&lt;/p&gt; &lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;The registries use a variety of data collection methods (e.g. online patient surveys or clinician led) and have a variety of budgets (from being run by volunteers to annual budgets over €200,000). All registries collect at least some of the originally agreed data items, and a number of additional items have been suggested in particular items on cognitive impact.&lt;/p&gt; &lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;The community should consider how to maximise this collective resource in future therapeutic programmes.&lt;/p&gt;</p

Astrobiology and the possibility of life on Earth and elsewhere…

Astrobiology is an interdisciplinary scientific field not only focused on the search of extraterrestrial life, but also on deciphering the key environmental parameters that have enabled the emergence of life on Earth. Understanding these physical and chemical parameters is fundamental knowledge necessary not only for discovering life or signs of life on other planets, but also for understanding our own terrestrial environment. Therefore, astrobiology pushes us to combine different perspectives such as the conditions on the primitive Earth, the physicochemical limits of life, exploration of habitable environments in the Solar System, and the search for signatures of life in exoplanets. Chemists, biologists, geologists, planetologists and astrophysicists are contributing extensively to this interdisciplinary research field. From 2011 to 2014, the European Space Agency (ESA) had the initiative to gather a Topical Team of interdisciplinary scientists focused on astrobiology to review the profound transformations in the field that have occurred since the beginning of the new century. The present paper is an interdisciplinary review of current research in astrobiology, covering the major advances and main outlooks in the field. The following subjects will be reviewed and most recent discoveries will be highlighted: the new understanding of planetary system formation including the specificity of the Earth among the diversity of planets, the origin of water on Earth and its unique combined properties among solvents for the emergence of life, the idea that the Earth could have been habitable during the Hadean Era, the inventory of endogenous and exogenous sources of organic matter and new concepts about how chemistry could evolve towards biological molecules and biological systems. In addition, many new findings show the remarkable potential life has for adaptation and survival in extreme environments. All those results from different fields of science are guiding our perspectives and strategies to look for life in other Solar System objects as well as beyond, in extrasolar worlds