Enforcement of a new data protection law in Europe: A threat and an opportunity for registries and cohorts in the field of rare diseases.

[Enforcement of a new data protection law in Europe: A threat and an opportunity for registries and cohorts in the field of rare diseases]. Rev Med Interne. 2018 Apr 03;: Authors: Aymé S PMID: 29625715 [PubMed - as supplied by publisher]
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research

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Authors: Schroader B, Kong SX, Anderson S, Williamson T, Sireci A, Shields K Abstract INTRODUCTION: The development of precision medicine and targeted therapies have revolutionized cancer treatment. Historically, treatment was chosen based on the tumor-histology, but can now be tailored to patient-specific actionable biomarkers. Investigations have shown up to 40% of cancer patients who undergo molecular testing have an actionable biomarker with a drug currently available, and that patients benefit from these drugs. In 2018, larotrectinib became the first drug developed and approved exclusively as a tumor-agnostic ...
Source: Expert Review of Anticancer Therapy - Category: Cancer & Oncology Tags: Expert Rev Anticancer Ther Source Type: research
The investment will be used to build a clinical-stage portfolio for rare diseases, including treatments for Fragile X syndrome.
Source: mobihealthnews - Category: Information Technology Source Type: news
National Institutes of Health has awarded a research team from Yale and other universities $7.8 million to establish a rare disease network called MGNet.
Source: Yale Science and Health News - Category: Universities & Medical Training Source Type: news
CONCLUSION: These updated guidelines will contribute to increase the level of urological care for diagnosis and treatment of UTUC. PMID: 31610873 [PubMed - in process]
Source: Progres en Urologie - Category: Urology & Nephrology Tags: Prog Urol Source Type: research
Publication date: Available online 15 October 2019Source: Annals of Medicine and SurgeryAuthor(s): Sardar Hassan Arif, Ayad Ahmad MohammedAbstractAbdomen cocoon is a rare disease in which a thick peritoneal membrane wraps the intestine causing the bowel loops to adhere to each other. It may be either primary(idiopathic) or secondary to other causes like previous abdominal surgery. Most patients present with abdominal pain and intestinal obstruction. The condition is usually diagnosed intraoperatively.Case 1A 30-year-old male patient presented with abdominal pain and bilious vomiting. The patient had similar previous attack...
Source: Annals of Medicine and Surgery - Category: General Medicine Source Type: research
Transcriptome data can facilitate the interpretation of the effects of rare genetic variants. Here, we introduce ANEVA (analysis of expression variation) to quantify genetic variation in gene dosage from allelic expression (AE) data in a population. Application of ANEVA to the Genotype-Tissues Expression (GTEx) data showed that this variance estimate is robust and correlated with selective constraint in a gene. Using these variance estimates in a dosage outlier test (ANEVA-DOT) applied to AE data from 70 Mendelian muscular disease patients showed accuracy in detecting genes with pathogenic variants in previously resolved c...
Source: ScienceNOW - Category: Science Authors: Tags: Genetics r-articles Source Type: news
Population-based health registries can be valuable resources for public health research, particularly for studying rare diseases and long-term health outcomes, where more traditional observational and experimental designs often have insufficient sample size or follow-up time to adequately address the research question(s) of interest. In this issue, Tith et al demonstrate the utility of one such health registry for asking questions that are difficult to answer using more traditional study designs. Using hospitalization records for Quebec, Canada, from 2006 to 2018, they found that women who had been hospitalized for bulimia...
Source: JAMA Psychiatry - Category: Psychiatry Source Type: research
Publication date: Available online 14 October 2019Source: Trends in GeneticsAuthor(s): Zhichao Liu, Liyuan Zhu, Ruth Roberts, Weida TongNext-generation sequencing (NGS) technologies have changed the landscape of genetic testing in rare diseases. However, the rapid evolution of NGS technologies has outpaced its clinical adoption. Here, we re-evaluate the critical steps in the clinical application of NGS-based genetic testing from an informatics perspective. We suggest a ‘fit-for-purpose’ triage of current NGS technologies. We also point out potential shortcomings in the clinical management of genetic variants an...
Source: Trends in Genetics - Category: Genetics & Stem Cells Source Type: research
Nature, Published online: 16 October 2019; doi:10.1038/d41586-019-03070-wCarlos Heras-Palou explains his part in making the first RNA-interference therapeutic available to people with rare diseases.
Source: Nature AOP - Category: Research Authors: Source Type: research
Publication date: Available online 14 October 2019Source: Journal of Biomedical InformaticsAuthor(s): Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Katy Billot, Marc Lelarge, Thomas Bonald, Hugo Garcia, Yoann Martin, Vincent Benoit, Marc Vincent, Hassan Faour, Maxime Douillet, Stanislas Lyonnet, Sophie Saunier, Anita BurgunAbstractRare diseases are often hard and long to be diagnosed precisely, and most of them lack approved treatment. For some complex rare diseases, precision medicine approach is further required to stratify patients into homogeneous subgroups based on the clinical, biological or molecular features. In s...
Source: Journal of Biomedical Informatics - Category: Information Technology Source Type: research
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