Pancreas Cancer Precision Treatment Using Avatar Mice from a Bioinformatics Perspective
Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer-related death among solid malignancies. Unfortunately, PDAC lethality has not substantially decreased over the past 20 years. This aggressiveness is related to the genomic complexity and heterogeneity of PDAC, but also to the absence of an effective screening for the detection of early-stage tumors and a lack of efficient therapeutic options. Therefore, there is an urgent need to improve the arsenal of anti-PDAC drugs for an effective treatment of these patients. Patient-derived xenograft (PDX) mouse models represent a promising strategy to personalize PD...
Source: Public Health Genomics - August 31, 2017 Category: Genetics & Stem Cells Source Type: research

Cancer Genomics and Public Health
Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - August 23, 2017 Category: Genetics & Stem Cells Source Type: research

Cancer Genomic Resources and Present Needs in the Latin American Region
In Latin America (LA), cancer is the second leading cause of death, and little is known about the capacities and needs for the development of research in the field of cancer genomics. In order to evaluate the current capacity for and development of cancer genomics in LA, we collected the available information on genomics, including the number of next-generation sequencing (NGS) platforms, the number of cancer research institutions and research groups, publications in the last 10 years, educational programs, and related national cancer control policies. Currently, there are 221 NGS platforms and 118 research groups in LA de...
Source: Public Health Genomics - August 21, 2017 Category: Genetics & Stem Cells Source Type: research

Assessment of Direct-to-Consumer Genetic Testing Policy in Korea Based on Consumer Preference
Conclusions: These findings imply that DTC-GT requires an improvement in government policy-making criteria and the implementation of practical measures to guarantee test accuracy and genetic information.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - August 17, 2017 Category: Genetics & Stem Cells Source Type: research

Exploring the Use of a Participative Design in the Early Development of a Predictive Test: The Importance of Physician Involvement
In this study, we contribute to the personalized medicine and health care management literature by developing and testing a new participative design approach. We propose that involving gastroenterologists in the development of a predictive test to assist them in their clinical decision-making process for the treatment of inflammatory bowel diseases will increase the likelihood of their acceptance of the innovation. Based on data obtained from 6 focus groups across Canada from a total of 28 physicians, analyses reveal that current tools do not enable discriminating between treatment options to find the best fit for each pat...
Source: Public Health Genomics - August 16, 2017 Category: Genetics & Stem Cells Source Type: research

Subjects at Risk for Genetic Late-Onset Neurological Diseases: Objective Knowledge
Conclusion: The disease itself and its meaning as well as sick relatives play a key role in the objective knowledge about LOND. Thus, genetic counseling protocols of subjects at risk for LOND should include questions concerning family knowledge and disease experience.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - August 16, 2017 Category: Genetics & Stem Cells Source Type: research

A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome
Conclusion: We propose that Asn242Ser is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. Therefore, screening for this variant should be considered for genetic testing in Iranian patients with JS. In addition, this finding is important for developing population-specific genetic testing in Iran.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - July 19, 2017 Category: Genetics & Stem Cells Source Type: research

Exosomes: A Cancer Theranostics Road Map
This article (a) discusses exosomes, (b) comments on the first microfluidic advances in the field of cancer theranostics, (c) presents such advances in exosomes as complementary to liquid biopsies with an emphasis on circulating tumor cells, and (d) proposes a road map for future developments.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - July 19, 2017 Category: Genetics & Stem Cells Source Type: research

A Common Ancestral Asn242Ser Mutation in < b > < i > TMEM67 < /i > < /b > Identified in Multiple Iranian Families with Joubert Syndrome
Conclusion: We propose that Asn242Ser is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. Therefore, screening for this variant should be considered for genetic testing in Iranian patients with JS. In addition, this finding is important for developing population-specific genetic testing in Iran.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - July 18, 2017 Category: Genetics & Stem Cells Source Type: research

Application of the DruGeVar Database in Cancer Genomics and Pharmacogenomics
In the post-genomic era, there is an increasing and urgent need for managing and visualizing big data. Data complexity and size will turn information growth into knowledge growth only if presented in a comprehensive and user-friendly way. In such a context, the information technology community collaborates in a multidisciplinary manner with other scientific fields searching for and/or developing tools and services for data management and visualization. We have previously developed DruGeVar, a comprehensive database that triangulates drugs with genes and pharmacogenomic biomarkers to serve clinical pharmacogenomics. To empo...
Source: Public Health Genomics - July 13, 2017 Category: Genetics & Stem Cells Source Type: research

DoriTool: A Bioinformatics Integrative Tool for Post-Association Functional Annotation
The emergence of high-throughput data in biology has increased the need for functional in silico analysis and prompted the development of integrative bioinformatics tools to facilitate the obtainment of biologically meaningful data. In this paper, we present DoriTool, a comprehensive, easy, and friendly pipeline integrating biological data from different functional tools. The tool was designed with the aim to maximize reproducibility and reduce the working time of the researchers, especially of those with limited bioinformatics skills, and to help them with the interpretation of the results. DoriTool is based upon an integ...
Source: Public Health Genomics - July 12, 2017 Category: Genetics & Stem Cells Source Type: research

Genomics in Primary and Secondary Prevention of Pancreatic Cancer
Conclusions: Despite of important efforts made in the recent time, little progress has been made to better characterise high-risk PC populations and to identify genomics-based markers for its early diagnosis. PC rates continue to rise, and this disease is becoming a real public health problem in the Westernised world. International and multidisciplinary strategies to identify new markers and properly validate the promising ones are urgently needed to implement cost-efficient primary and secondary prevention interventions in PC.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - July 7, 2017 Category: Genetics & Stem Cells Source Type: research

Health-Related Genetic Direct-to-Consumer Tests in the German Setting: The Available Offer and the Potential Implications for a Solidarily Financed Health-Care System
Conclusions: Genetic results may lead to uncertainty and anxiety; therefore, subsequent costs for a solidarily financed system may arise. Genetic DTC tests may have an influence on different players on the micro-, meso- and macro-levels, which may have a cost-cutting or cost-increasing effect on health-care expenditures. The increased interest in genetic analysis as well as the possibility of worldwide internet-based access to genetic tests requires population-wide education.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - June 22, 2017 Category: Genetics & Stem Cells Source Type: research

Cancer Precision Medicine: Why More Is More and DNA Is Not Enough
Every tumour is different. They arise in patients with different genomes, from cells with different epigenetic modifications, and by random processes affecting the genome and/or epigenome of a somatic cell, allowing it to escape the usual controls on its growth. Tumours and patients therefore often respond very differently to the drugs they receive. Cancer precision medicine aims to characterise the tumour (and often also the patient) to be able to predict, with high accuracy, its response to different treatments, with options ranging from the selective characterisation of a few genomic variants considered particularly imp...
Source: Public Health Genomics - June 8, 2017 Category: Genetics & Stem Cells Source Type: research

Epigenomics, Pharmacoepigenomics, and Personalized Medicine in Cervical Cancer
Epigenomics encompasses the study of genome-wide changes in DNA methylation, histone modifications and noncoding RNAs leading to altered transcription, chromatin structure, and posttranscription RNA processing, respectively, resulting in an altered rate of gene expression. The role of epigenetic modifications facilitating human diseases is well established. Previous studies have identified histone and cytosine code during normal and pathological conditions with special emphasis on how these modifications regulate transcriptional events. Recent studies have also mapped these epigenetic modification and pathways leading to c...
Source: Public Health Genomics - May 19, 2017 Category: Genetics & Stem Cells Source Type: research