[Relationships between Medicine and Spirituality].

This review aims at analysing the links between medicine and spirituality, two seemingly distant concepts. Medicine at its beginnings was imbued with rituals that invoked the intervention of supernatural powers, as man were unable to treat diseases and struggled to bear the suffering caused by them and the fragility of their own bodies. Today, in the post-genomic era, medicine has gained great benefits from new and extraordinary scientific and technological achievements, permitting sophisticated therapeutic and diagnostic approaches, which assure cures not previously possible. Even considering these great accomplishments in medicine and technology, it should be borne in mind that diseases not only induce bodily changes in sufferers, but also affect their emotional state and social interactions. Illness, especially when serious and in presence of a poor prognosis, raises profound questions around the meaning of life, affections, suffering and death. In the last few decades scientists, doctors, theologians, psychologists and others, in considering these questions, have emphasized the importance of spirituality as a relevant factor in the care of the sick and their illnesses. Drawing from some thoughts expressed in the book, "When the Breath Becomes Air," authored by the physician Paul Kalanithi, we claim that spirituality should be perceived as an important contributing factor in the therapeutic path. Our aim is to deepen the meaning of spirituality, differentiating it from religion, faith and mysticism, and to understand how it should be integrated with post-genomic medicine to enhance its positive aspects and effects.

Patient-physician alliance: from Hippocrates to Post-Genomic Era. Commentary.

Patients need clinical competence, appropriate diagnosis and therapies in overcoming their disease. Yet this is insufficient. The illness experience tends to frighten people and the resulting emotional aspects could become relevant factors in coping with a sickness and disability. Hippocrates was the first to urge physicians to look beyond the physical features of diseases and to consider the patient as a unique psychosomatic entity. Additionally, the scientist spurred physicians to make the patient an active participant in combating the disease. According to Hippocrates, "the Medical Art has three actors: the physician, the patients and the disease. The physician and the patient must be allied against the disease in order to fight it". In the "Post-Genomic Era", an effective therapeutic approach merits a patient-physician participation, based on scientific understandings and human considerations. These recommendations are even more urgent for Rare Diseases.

P4 Medicine versus Hippocrates.

Hippocrates was the first to raise awareness of medicine as a science. He asserted the body being a unified whole and emphasized the importance of preventive and predictive medicine, spurring physicians to foster patient collaboration. Recent achievements today have permitted a new approach "P4 medicine" - Predictive, Preventive, Personalized and Participatory - with the aim of depicting an individual's health history and molecular profile in determining the best medical intervention in maintaining or restoring wellbeing. There is a link, which brings together Hippocrates and P4 Medicine. This review will elaborate further this statement, considering the scientific achievements that paved the way for recent medical approaches. Emphasis will be given to the social impact of new diagnostic and therapeutic protocols, considering their costs and their success probabilities.

[Rare diseases in post-genomic era.] / Le malattie rare nell'era post-genomica.

The Human Genome Project and the "-omics" technologies will in future provide genetic maps and biosynthetic pathways permitting personalized medical interventions directed at maintaining or restoring wellbeing. This is reflected in the strategy aims of 4P medicine in being: predictive, preventive, personalized, and participatory. The results obtained in the field of cystic fibrosis, with the cloning of CFTR gene, and use of Kalydeco®, have demonstrated how using the mentioned strategies could also have success in rare disease management. Kalydeco® is the emblematic example demonstrating the indispensable role of an active patient participation in fully achieving the P4 medicine goals. It is actually the patient involvement that will furnish the fundamental data necessary in defining molecular profiles specific to the health status of any patient. These molecular profiles will contribute in planning preventive, and/or therapeutic interventions aimed at maintaining, and/or restoring the health conditions. Hence, for a correct and effective implementation of P4 medicine, researchers and healthcare professionals should always consider the psychological experiences and characteristics of their patients and families; making them all participants in formulating an appropriate therapeutic path. In achieving this, it will not only be necessary to consider and use concepts of vulnerability and resilience, particularly in the rare disease field, where patient fragility is high, and caregivers are often faced with unique and difficult issues, never confronted before.

The Italian Twin Register: new cohorts and tools, current projects and future perspectives of a developing resource.

Since its start as a database of "possible twins", the Italian Twin Register has developed remarkably in terms of twin approach and recruitment, data-management tools, the cohorts enrolled, and the breadth of information gathered, making the Italian Twin Register a valuable resource for genetic epidemiological research. The Italian Twin Register is a random population of twins at both the national level and within targeted geographical areas or birth cohorts. Further, the Register is linked with disease records and has recently implemented a web-based method for volunteer twin recruitment specifically designed to promote the Register and to disseminate information on genetic epidemiology. To date, approximately 9000 twins have joined the Italian Twin Register, the majority of whom (approximately 70%) represent young adults aged 20 at time of enrollment. Although the total number of twins recruited to date is far below the expected figure initially predicted, the newly established standardized procedures guarantee an increase of around 2000 twins each year. Following the collaboration between the Italian Twin Register and the main Italian nonprofit association for blood donors, twin DNA sampling and storage has recently accelerated contributing to the large amount of phenotypic data collected. The Italian Twin Register is currently involved in both population and clinical based studies on various complex phenotypes and diseases, some conducted within large European consortia.

[DNA-microarray: new technological approaches on twin studies]. / DNA-microarray: nuovi approcci sperimentali per lo studio dei gemelli.

The completion of the Human Genome Project, and the innovations introduced in biotechnology are changing how to study twins. Here, we summarize some molecular studies performed on populations of discordant monozygotic twins (MZ) applying microarrays. Microarrays are an orderly arrangement of high numbers of probes (DNA, RNA or proteins), immobilized onto a matrix. The microarray approach allows a global analysis of gene expression, and therefore might point out the molecular mechanisms of MZ twins' discordance, such as epigenetic mechanisms. The application of microarray to twin studies will help better define, through bioinformatics, the role of genes and environment in the development of human diseases, thus suggesting new diagnostic and therapeutic approaches.

Cancer: we should not forget the past.

Cancer has been in existence longer than human beings, and man has been facing the illness ever since he made his appearance on Earth. Amazingly, the first human cancer gene was cloned only thirty years ago. This, and other extraordinary scientific goals achieved by molecular cancer research in the last 30 years, seems to suggest that definitive answers and solutions to this severe disease have been finally found. This was not the case, as cancer still remains to be defeated. To do so, cancer must be first understood. This review highlights how cancer onset and progression has been tackled from ancient times to present day. Old theories and achievements have provided the pillars of cancer understanding, in laying the basis of 'modern era' cancer research, are discussed. The review highlights the discovery of oncogenes and suppressor tumor genes, underlining the crucial role of these achievements in cancer diagnosis and therapies. Finally, an overview of how the modern technologies have given impetuous to expedite these goals is also considered.

[Twins in biomedical research and the creation of the "National Twin Registry"]. / I gemelli nella ricerca biomedica e l'istituzione del "Registro Nazionale Gemelli".

Twins are a valuable resource for the study of complex traits. The twin method is substantially based on the comparison between correlations and concordance in monozygotic (MZ) and dizygotic (DZ) twins and allows several applications in biomedical and molecular genetic research. It allows either the qualitative and quantitative evaluation of the influences that genetic and environmental factors exert on phenotypes or the estimation of trait variability. Moreover, classical genetic linkage analysis is more powerful if performed in DZ twins. However, the twin method has some pitfalls, such as the necessity that collected samples be representative of both twin and general population. For this reason, over the last few years, a number of Countries have established population-based twin registers, which guarantee the maximum level of representation and, consequently, are of extreme value for epidemiological studies. Italy is also implementing a national twin register. The following is the description of the procedure that led to the establishment of the Italian Twin Registry.