Stories from Watertown: subjectification in living labs or an auto-ethnographic game for the development of worldviews awareness

Context. En l'època actual, és de vital importància transitar cap a futurs afirmatius i de vida. Hi ha amplis esforços per actualitzar el sistema actual tal que sigui menys perjudicial per al planeta i nosaltres mateixos. Tot i això, les disciplines emergents en transicions de sistemes reconeixen que no n'hi ha prou, i que, de fet, necessitem nous models integrals de pensament i comportament. L'especulació i les arts en són els més grans contribuents, però encara en calen molts més: les transicions s'han de fer al món real, amb diversos agents i en espais on es pugui experimentar, com els living labs. Objectiu de la recerca. Sent conscient que els living labs sovint fallen en comportar-se segons la seva definició i limiten la innovació, la finalitat d'aquest treball és proposar un marc per introduir la necessitat d'innovar a diferents nivells (tecnològicament, socialment, i en mentalitats), amb especial atenció a les visions del món. Això ho presento com a essencial per la confiança entre diversos agents, que és un dels problemes més presents i reconeguts en els living labs. Metodologia. Aquest treball utilitza diversos mètodes: des de síntesi teòrica a pràctiques de recerca auto-etnogràfiques en disciplines com la sociologia, el disseny i la filosofia (occidental i indígena). A través re raonament abductiu i validacions a través de converses, es desenvolupa un model per incentivar diàlegs autoreflexius cap a maneres de ser postantropocèntriques i posthumanes. Proposta clau. Es mostra un joc iteratiu per iniciar converses individuals i col·lectives que permetin guanyar consciència de la visió del món d'un mateix. El joc de reflexió inclou una col·lecció de contes amb diverses visions del món i 16 cartes que animen a la reflexió i a emmirallar-se en les teves pròpies ontologies. A més, també inclou la plantilla d'una cartografia per guiar discussions col·lectives sobre les reflexions personals.Background. In current times, it is of vital importance to transition into new futures of affirmation and life. Broad efforts are in place to come up with upgrades in the current system to become less harmful to the planet and ourselves. But the emerging disciplines of system transitions acknowledge it is not enough and we, in fact, are in need of integral new models of doing and thinking. Speculation and arts are the main contributors, yet more contributions are needed: transitions must be set up in the playing field, in multi-stakeholder and experimental spaces such as living labs (LLs). Research aims. Aware living labs often fail to act by their definition and limit their innovations, the aim is to propose a framework to introduce the need for multilevel innovation (technology, society, and mindsets) with a special focus on worldviews. This is presented and argued as a keystone for trust, which is a broad and acknowledged issue within LLs. Methodology. This work has employed mixed methods, from theoretical synthesis to autoethnography research practices in disciplines such as sociology, design and (western and indigenous) philosophy. Through abductive reasoning and conversation-based validations, a model to arise self-reflection dialogues towards postanthropocentric and posthuman ways of being in living labs is developed. Key proposal. An iterative conversation-starter game for individual and collective worldview awareness is proposed. This reflection game includes a collection of multi-worldview short stories and 16 call-to-reflection question cards that call to mirror to participants' ontologies. Also, a cartography template is included to guide collective discussions about people’s own reflections.Award-winnin

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

Funder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health); doi: https://doi.org/10.13039/100011272; Grant(s): 305444, 305444Funder: Ministerio de Economía y Competitividad (Ministry of Economy and Competitiveness); doi: https://doi.org/10.13039/501100003329Funder: Generalitat de Catalunya (Government of Catalonia); doi: https://doi.org/10.13039/501100002809Funder: EC | European Regional Development Fund (Europski Fond za Regionalni Razvoj); doi: https://doi.org/10.13039/501100008530Funder: Instituto Nacional de Bioinformática ELIXIR Implementation Studies Centro de Excelencia Severo OchoaFunder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health)Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

International audienceReanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics