Biodireito no século XXI

The rapid pace in the progression of life sciences pushes law in one of its most significant intrinsic features: the principle of certainty. While uncertainty and the modifiability of its results are of normal currency in life sciences, they are especially problematic in law, jeopardizing the very essence of equality and non­ discrimination. lt is also worth mentioning that life sciences work on a very diverse set of materials and cases that usually differ from each other. Any even minimum specific traits ofbio-objects must be considered so as to avoid an undifferentiated and therefore unreasonable legal regulation. Law as a codified set of general principles also suffers from this perspective. Taking the above into consideration, this article proposes a number of coordinates, which can give biolaw the necessary features to cope with a diflicult, ever-changing and very specific dimension of human knowledge - building, in this way, an open, updated and attentive biolaw for 21st Century life sciences.El rápido ritmo en la progresión de las ciencias de la vida impulsa al derecho en una de sus características intrínsecas más significativas: el principio de certidumbre . Si bien la incertidumbre y la modificabilidad de sus resultados son moneda corriente en las ciencias de la vida, son especialmente problemáticos en el derecho y ponen en peligro la esencia misma de la igualdad y la no discriminación. También cabe mencionar que las ciencias de la vida trabajan sobre un conjunto muy diverso de materiales y casos que suelen diferir entre sí. Cualquier rasgo específico mínimo de los bio-objetos debe considerarse para evitar una regulación legal indiferenciada y, por lo tanto, irrazonable. El derecho como conjunto codificado de principios generales también adolece de esta perspectiva. Teniendo en cuenta lo anterior, este artículo propone una serie de coordenadas, que pueden dotar al bioderecho de las características necesarias para hacer frente a una dimensión difícil, cambiante y muy específica del conocimiento humano, construyendo, de esta manera, un bioderecho abierto, actualizado y atento para las ciencias de la vida del siglo XXI.La progression rapide des sciences de la vie entraine le droit dans l'une de ses caractéristiques intrinseques les plus importantes : le principe de certitude. Si l'incertitude et la modifiabilité de ses résultats sont monnaie courante dans les sciences du vivant, elles sont particulierement problématiques en droit et mettent en péril l'essence meme de l'égalité et de la non-discrimination. Il convient également de mentionner que les sciences de la vie travaillent sur un ensemble tres varié de matériaux et de cas souvent différents. Toute caractéristique spécifique minimale des bio-objets doit etre prise en compte afin d'éviter une réglementation juridique indifférenciée et done déraisonnable. Le droit en tant qu'ensemble codifié de principes généraux souffre également de cette perspective. Compte tenu de ce qui précede, cet article propose une série de coordonnées qui peuvent fournir aux bio-droits les caractéristiques nécessaires pour faire face a une dimension difficile, changeante et tres spécifique de la connaissance humaine, construisant ainsi un biodroit ouvert, actualisé et attentif pour les sciences de la vie du 21eme siecle.O rápido ritmo de progressao nas ciencias da vida impulsiona o direito numa das suas características intrínsecas mais significativas: o princípio da certeza. Embora a incerteza e a modificabilidade dos seus resultados sejam comuns nas ciencias da vida, sao particularmente problemáticas no direito e póem em perigo a própria essencia da igualdade e da nao discriminac;:ao. Deve também ser mencionado que as ciencias da vida trabalham num conjunto muito diversificado de materiais e casos muitas vezes diferentes. Qualquer característica específica mínima dos bio-objectos <leve ser considerada a fim de evitar urna regulamentac;:ao legal indiferenciada e, portanto, irrazoável.  A  lei  como  um  conjunto  codificado de princípios gerais também sofre desta perspectiva. Tendo em conta o acima exposto, este artigo propóe urna série de coordenadas, que podem fornecer bio-direitos com as características necessárias para enfrentar urna dimensao difícil, mutável e muito específica do conhecimento humano, construindo assim um biodireito aberto, actualizado e atento para as ciencias da vida do século XXI

The devil is in the details: an analysis of patient rights in Swiss cancer registries

Cancer registries are an important part of the public health infrastructure, since they allow to monitor the temporal trends of this illness as well as facilitate epidemiological research. In order to effectively set up such registries, it is necessary to create a system of data collection that permits to record health-related information from patients who are diagnosed with cancer. Given the sensitive nature of such data, it is debated whether their recording should be based on consent or whether alternative arrangements are possible (eg, opt-out systems where information is automatically collected but patients can later withdraw). In the recent reform of the Swiss cancer registration legislation, the lawmaker set out to implement rules about the recording of data in cancer registries that would allegedly go beyond a consent-based model, in order to balance accurate registration with respect of patient rights. However, by analysing the operational norms of the new legislation and comparing them with those of other systems, it emerges that the Swiss rules de facto closely resemble a system of registration based on informed consent-in partial contradiction with the objective pursued by the lawmaker. In this paper, we show how the details of a policy are crucial to determine its true nature and we highlight some critical elements-from an ethical standpoint-of the recently reformed Swiss policy on cancer registration

Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs

While the genetics of autism spectrum disorders (ASD) has been intensively studied, resulting in the identification of over 100 putative risk genes, the epigenetics of ASD has received less attention, and results have been inconsistent across studies. We aimed to investigate the contribution of DNA methylation (DNAm) to the risk of ASD and identify candidate biomarkers arising from the interaction of epigenetic mechanisms with genotype, gene expression, and cellular proportions. We performed DNAm differential analysis using whole blood samples from 75 discordant sibling pairs of the Italian Autism Network collection and estimated their cellular composition. We studied the correlation between DNAm and gene expression accounting for the potential effects of different genotypes on DNAm. We showed that the proportion of NK cells was significantly reduced in ASD siblings suggesting an imbalance in their immune system. We identified differentially methylated regions (DMRs) involved in neurogenesis and synaptic organization. Among candidate loci for ASD, we detected a DMR mapping to CLEC11A (neighboring SHANK1) where DNAm and gene expression were significantly and negatively correlated, independently from genotype effects. As reported in previous studies, we confirmed the involvement of immune functions in the pathophysiology of ASD. Notwithstanding the complexity of the disorder, suitable biomarkers such as CLEC11A and its neighbor SHANK1 can be discovered using integrative analyses even with peripheral tissues

Introduzione al biodiritto: la bioetica nel diritto costituzionale comparato

L’obiettivo principale di questo lavoro consiste nel sottoporre a verifica critica, alla luce di tematiche e di casi specifici, alcune delle categorie che abitualmente si utilizzano nei ragionamenti giuridici dedicati alle questioni di bioetica. La prospettiva da cui condurre l’analisi – non solo a motivo della formazione personale di chi scrive, come si vedrà subito – non sarà quella della filosofia del diritto, area che finora ha nutrito gran parte della riflessione biogiuridica, ma quella del diritto costituzionale comparato. I principali riferimenti, quindi, non andranno a concetti come verità, bene, natura o verso le teorie dell’utilitarismo, relativismo, neocontrattualismo, principialismo, ecc., ma si rivolgeranno a previsioni costituzionali, a leading cases, a disposizioni normative e ad interpretazioni dottrinali tutte esaminate all’interno di un quadro di riferimento logico-concettuale riconducibile al diritto costituzionale ed al metodo comparato. Il lavoro è stato eseguito con il contributo della Provincia Autonoma di Trento