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Behavioral Prediction of Cancer Using Machine Learning
Published in Meenu Gupta, Rachna Jain, Arun Solanki, Fadi Al-Turjman, Cancer Prediction for Industrial IoT 4.0: A Machine Learning Perspective, 2021
In the research done by Listgarten et al. [16], predictive models for breast cancer susceptibility were studied and developed, wherein the single nucleotide polymorphisms (SNPs) were identified for over 45 genes of breast cancer [16]. In this study, multiple SVM models were employed, of which the SVM quadratic kernel yielded an accuracy of 69%. On the other hand, Waddell et al. [17] also used SVMs to develop predictive models for the study of the overall susceptibility of multiple myeloma. The proposed model explored the single positions of variation in DNA, i.e., single nucleotide polymorphisms. It has been inferred that the exploration of the patterns in SNPs may make it easier to identify markers for genetic predisposition to disease [17]. Also, a maximum accuracy of 71% was achieved through this research in the risk assessment of multiple myeloma.
Autologous Hematopoietic Stem Cell Transplantation for Crohn’s Disease
Published in Richard K. Burt, Alberto M. Marmont, Stem Cell Therapy for Autoimmune Disease, 2019
Robert M. Craig, Richard K. Burt
Regardless of the molecular events that confer tolerance or its converse immunity, there appear to be both susceptibility factors, presumably genetic, and trigger mechanisms involved.63 A model for understanding the process is a genetic predisposition that is dormant until exposed to the appropriate environmental and hormonal triggers. Theoretically, stem cell transplantation following immune ablation allows the elimination or marked decrease of auto destructive T-lymphocyte repertoires and the reintroduction of tolerance from the stem cell compartment. Although the susceptibility for a relapse of CD is not eliminated using autologous HSCs, the patient may remain in permanent remission so long as he/she is not exposed to the appropriate trigger(s) in the future. Using allogeneic HSCs may also eliminate a genetic predisposition to disease. Allogeneic HSCT protocols are currently being evaluated in phase I safety trials for rheumatoid arthritis and scleroderma and, if found safe and effective, allogeneic HSCT may be used in future transplant trials for patients with CD. Attempting immune ablation and regeneration from either autologous or allogeneic hematopoietic stem cells, i.e., a HSCT, for cases of severe inflammatory bowel disease allows a unique opportunity to simultaneously biopsy an easily accessible but poorly understood immune compartment and disease affected organ.
Introduction: Biomedical innovation and policy in the twenty-first century
Published in Priya Hays, Advancing Healthcare Through Personalized Medicine, 2017
Chapter 8, “A New Set of Clinical Tools for Physicians,” details how, as a result of the personalized medicine revolution, a new set of clinical tools will be available for physicians in the form of molecular diagnostics. An omics profile will soon be at a clinician’s disposal for interpreting patient recommendations. An omics profile consists of the patient’s genomic and metabolomic information that will give the physician data on the patient’s health status. As a result, rather than merely interpreting a patient’s clinical history and biochemical tests, physicians will also be able to recommend lifestyle changes to the patient on the basis of genetic predisposition and disease risk.
Single nucleotide polymorphisms in treatment of polycystic ovary syndrome: a systematic review
Published in Drug Metabolism Reviews, 2019
Ritu Deswal, Smiti Nanda, Amita Suneja Dang
Understanding the genetic predisposition to disease not only help to identify novel targets for future drug development, but also tailoring disease risk assessment. Large variations have been found in the way patients respond to drugs. This may also lead to intervene at an earlier preclinical disease stage and to prevent progression to clinically debilitating manifestations disease. The cited studies which focused on pharmacogenomics of PCOS treatment are limited. Large prospective and randomized trials are required to evaluate the existing evidence in order to derive advanced treatment schemes based on individual genetic traits. Some of the challenges in performing this study are (i) there have been many studies on PCOS, but studies examining SNPs effect on medication are limited; (ii) many manifestations of the PCOS may be components of other disease processes like obesity, diabetes, insulin resistance, for example, pharmacological studies are available for diabetes, but the patient population in the study did not explicitly have PCOS. (iii) Of all the drugs used to treat PCOS and associated complications, most of the prospective randomized clinical trials data are related to metformin only.
A Neglected Ethical Issue in Citizen Science and DIY Biology
Published in The American Journal of Bioethics, 2019
Despite these caveats, it is clear that the enthusiasm and potential for self-administered genetic testing are burgeoning. This raises the question—what if someone discovers something disturbing about their own genome? Does anyone bear responsibility here for mitigating risk or harm, and how is this best achieved? Attention has been paid to these problems in direct-to-consumer genetic testing, as displayed by the dispute between the FDA and 23andme—23andme was initially banned from providing information about genetic predisposition for disease, before receiving approval to provide information concerning predisposition for ten conditions, on the condition that they explain how the tests work and how to interpret them, and include the caveat that “they are not intended to diagnose disease nor guide medication use” (Ratner 2018). Similar provisos are included in collaborative citizen-scientist endeavors such as the Harvard Medical School’s “Personal Genome Project,” in which volunteers contribute their DNA for analysis and compilation of data. Volunteers are required to submit a comprehensive consent form, which warns, among other things, of possible inaccuracies in the data, uncertainty in results, and possible psychological distress from findings, as well as maintaining that any information gleaned from the study should not be used for diagnostic purposes, and directing those with questions to their physician (Harvard University Faculty of Medicine IRB 2015).
Rosacea and the eye: a recent review
Published in Expert Review of Ophthalmology, 2018
Christine M. Longo, Alejandro P. Adam, Edward J. Wladis
Rosacea is largely considered a disorder affecting the central face, while its involvement in the periocular region has been largely understudied even though the ocular manifestations of the disease affect most of the individuals with this diagnosis. Ocular manifestations can vary, however the hallmarks for clinical diagnosis include lid margin telangiectases, interpalpebral conjunctival injection, spade shaped corneal infiltrates and scleritis. Left untreated, these patients are at increased risk for multiple, more severe ocular disease. Currently, we know that the population most affected by this disease includes middle aged Caucasians of European descent, who may have a genetic predisposition toward disease progression. We also know that several triggers may worsen symptoms and result in flares, with the most common triggers being ultraviolet light, stress, and weather. Rosacea appears to be the result of abnormalities in the innate and adaptive immune systems, with TLR pathways, KLK and LL-37 being the major components. Furthermore, neurovascular dysregulation also seems to play a role in the pathophysiology of this disease with the substance P, vasoactive intestinal polypeptide, calcitonin gene-related peptide and pituitary adenylate cyclase-activating polypeptide, being among the most notable neuro-mediators involved. Most of the treatments currently available focus on alleviating symptoms rather than targeting the pathophysiology, with the exception of azelaic acid, which appears to have some effect at the molecular level. Clearly, further research in this field is necessary to advance and improve treatment options for future patients.