Inscrutable Genes

" In most cases, the molecular consequences of disease, or trait-associated variants for human physiology, are not understood. " from: Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461:747 –53. The 1960s was a wonderful decade for the field of molecular genetics. Hundreds of inherited metabolic diseases were being studied. Most of these diseases could be characterized by a simple inherited mutation in a disease-causing gene. Back then, we thought we understood genetic diseases. Here ’s how it all might have worked, if life were simple: one mutation! one gene ! one protein ! one disease. This lovely genetic parable, from a bygone generation, seldom applies in the era of Precision Medicine. The purpose of this section is to explain some of the complexities of modern genetics an d to lay out the job of the Precision Medicine scientist who must dissect the pathways that lead from gene to disease. InPrecision Medicine and the Reinvention of Human Disease, two of the most confuding aspects of modern disease genetics are discussed: that a single disease may result from one of many distinct molecular defects; and that a single gene may produce many different diseases. These two countervailing phenomena tell us something very important about disease development. The first is that different pathways may converge to the same disease, and that any single gene may perturb...
Source: Specified Life - Category: Information Technology Tags: genetic heterogeneity genetics multi-step pathogenesis precision medicine Source Type: blogs

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Publication date: Available online 18 January 2020Source: Redox BiologyAuthor(s): Mohamad Assi, Suzanne Dufresne, Amélie RébillardAbstractIn this paper of the special issue dedicated for the Olympics 2020, we put the light on an exciting facet of exercise-oncology, which may still be unknown to some audience. Accumulating convincing evidences show that exercise reduces cancer progression and recurrence mainly in colon and breast cancer patients. Interestingly, the positive effects of exercise on cancer outcomes were mainly observed when patients practiced vigorous exercise of 6 METs or more. At the molecular ...
Source: Redox Biology - Category: Biology Source Type: research
Authors: Bharadwaj AS, Swamy PM, Mamas MA Abstract Introduction: There are numerous shared risk factors in the etiopathogenesis of coronary artery disease (CAD) and cancer both at the epidemiologic and molecular level. Additionally, the different modalities of treatment of cancer such as radiation, chemotherapy, immunotherapy and hormonal therapies further increase the risk of CAD and acute coronary syndrome. Most large database analysis and single center experiences have shown that cancer patients undergoing PCI are at an increased risk of in-hospital mortality, bleeding repeat revascularization.Areas covered: In ...
Source: Expert Review of Cardiovascular Therapy - Category: Cardiology Tags: Expert Rev Cardiovasc Ther Source Type: research
Authors: Annibale B, Esposito G, Lahner E Abstract SUMMARYIntroduction: Atrophic gastritis (AG) is a complex syndrome which arise as consequence of H. pylori infection or in the context of gastric autoimmunity. It often deserves a benign course, but may lead to potentially life-threatening complications: cancer and anaemia. This review aims to address traditional and innovative knowledge on this often under-diagnosed disorder.Areas covered: This review covers clinical presentation, risk factors, diagnosis and management of AG and provides an updated resource for clinicians to get insight in this challenging disorde...
Source: Expert Review of Gastroenterology and Hepatology - Category: Gastroenterology Tags: Expert Rev Gastroenterol Hepatol Source Type: research
Authors: Palma-Carvajal F, Salazar-Villegas Á, Alé-Chilet A, Bernal-Morales C, Dotti-Boada M, Figueroa-Vercellino JP, Alforja S PMID: 31948687 [PubMed - as supplied by publisher]
Source: Journal Francais d Ophtalmologie - Category: Opthalmology Tags: J Fr Ophtalmol Source Type: research
We present the case of a 37-year-old asymptomatic female who underwent right ovarian cystectomy for a mature cystic teratoma and was found to have an intra-tumoral paraganglioma. More research is needed to determine metastatic potential as well as the likelihood of recurrence of these unique neoplasms.
Source: Gynecologic Oncology Reports - Category: OBGYN Source Type: research
ConclusionFor advanced endometrial cancer patients, surgery in addition to chemotherapy confers a survival advantage except when optimal debulking cannot be achieved.
Source: Gynecologic Oncology Reports - Category: OBGYN Source Type: research
TERMINALLY-ILL cancer patients are stunning medical experts by getting the all-clear after being given an NHS therapy dubbed “the Lazarus treatment”. The “transformational” form of immunotherapy reprogrammes the immune system so that it destroys the cancer, with tumours shrinking within days.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
Publication date: Available online 17 January 2020Source: The Lancet NeurologyAuthor(s): Frank Jessen, Rebecca E Amariglio, Rachel F Buckley, Wiesje M van der Flier, Ying Han, José Luis Molinuevo, Laura Rabin, Dorene M Rentz, Octavio Rodriguez-Gomez, Andrew J Saykin, Sietske A M Sikkes, Colette M Smart, Steffen Wolfsgruber, Michael WagnerSummaryA growing awareness about brain health and Alzheimer's disease in the general population is leading to an increasing number of cognitively unimpaired individuals, who are concerned that they have reduced cognitive function, to approach the medical system for help. The term su...
Source: The Lancet Neurology - Category: Neurology Source Type: research
This article seeks to shed light on the dualistic role of Wnt signalling in liver regeneration following injury and how Wnt signalling can regulate scar formation. It also discusses how Wnt signalling cooperates with other classical fibrogenic signalling cascades, such as TGFβ signalling. Finally, the article examines recent advances in the development of Wnt signalling pathway inhibitors and asks whether repurposing these agents as anti-fibrotic therapies is a realistic option.Expert Opinion: The understanding of Wnt signalling in liver regeneration and fibrosis is in its infancy and whilst new generations of Wnt pat...
Source: Expert Opinion on Investigational Drugs - Category: Drugs & Pharmacology Tags: Expert Opin Investig Drugs Source Type: research
Abstract Protein N-glycosylation plays crucial roles in many biological processes and has close association with the occurrence and development of various cancers. Therefore, it is necessary to analyze the abnormal changes of N-glycopeptides in complex biological samples for biomarker discovery. However, due to their low abundance and poor ionization, N-glycopeptides identification in complex samples by mass spectrometry (MS) is still a challenging task. In this work, a novel magnetic hydrophilic material was prepared by serial functionalization of ultra-thin two-dimensional molybdenum disulfide with Fe3O4 nanopar...
Source: Analytica Chimica Acta - Category: Chemistry Authors: Tags: Anal Chim Acta Source Type: research
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