Personalized Medicine of Alzheimer’s Disease
Ontology highlight
ABSTRACT:
SUBMITTER: Cacabelos R
PROVIDER: S-EPMC7149555 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
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Project description:Ménière's disease (MD) represents a heterogeneous group of relatively rare disorders with three core symptoms: episodic vertigo, tinnitus, and sensorineural hearing loss involving 125 to 2,000 Hz frequencies. The majority of cases are considered sporadic, although familial aggregation has been recognized in European and Korean populations, and the search for familial MD genes has been elusive until the last few years. Detailed phenotyping and cluster analyses have found several clinical predictors for different subgroups of patients, which may indicate different mechanisms, including genetic and immune factors. The genes associated with familial MD are COCH, FAM136A, DTNA, PRKCB, SEMA3D, and DPT. At least two mechanisms have been involved in MD: (a) a pro-inflammatory immune response mediated by interleukin-1 beta (IL-1?), tumor necrosis factor alpha (TNF?), and IL-6, and (b) a nuclear factor-kappa B (NF-?B)-mediated inflammation in the carriers of the single-nucleotide variant rs4947296. It is conceivable that microbial antigens trigger inflammation with release of pro-inflammatory cytokines at different sites within the cochlea, such as the endolymphatic sac, the stria vascularis, or the spiral ligament, leading to fluid imbalance with an accumulation of endolymph. Computational integration of clinical and "omics" data eventually should transform the management of MD from "one pill fits all" to precise patient stratification and a personalized approach. This article lays out a proposal for an algorithm for the genetic diagnosis of MD. This approach will facilitate the identification of new molecular targets for individualized treatment, including immunosuppressant and gene therapy, in the near future.
| S-EPMC6097350 | biostudies-literature
Project description:The management of inflammatory bowel disease (IBD) has been transformed over the last two decades by the arrival of tumor necrosis factor (TNF) antagonist agents. Recently, alternative drugs have been approved, directed at leukocyte-trafficking molecules (vedolizumab) or other inflammatory cytokines (ustekinumab). New therapeutics are currently being developed in IBD and represent promising targets as they involve other mechanisms of action (JAK molecules, Smad 7 antisense oligonucleotide etc.). Beyond TNF antagonist agents, these alternative drugs are needed for early-stage treatment of patients with aggressive IBD or when the disease is resistant to conventional therapy. Personalized medicine involves the determination of patients with a high risk of progression and complications, and better characterization of patients who may respond preferentially to specific therapies. Indeed, more and more studies aim to identify factors predictive of drug response (corresponding to a specific signaling pathway) that could better manage treatment for patients with IBD. Once treatment has started, disease monitoring is essential and remote patient care could in some circumstances be an attractive option. Telemedicine improves medical adherence and quality of life, and has a positive impact on health outcomes of patients with IBD. This review discusses the current application of personalized medicine to the management of patients with IBD and the advantages and limits of telemedicine in IBD.
| S-EPMC5784543 | biostudies-literature
Project description:PurposePersonalized medicine (PM) is the concept of managing patients based on their characteristics, including genotypes. In the field of cardiology, advantages of PM could be found in the diagnosis and treatment of several conditions such as arrhythmias and cardiomyopathies; moreover, it may be beneficial to prevent adverse drug reactions (ADR) and select the best medication. Genetic background can help us in selecting effective treatments, appropriate dose requirements, and preventive strategies in individuals with particular genotypes.MethodIn this review, we provide examples of personalized medicine based on human genetics for the most used pharmaceutics in cardiology, including warfarin, clopidogrel, and statins. We also review cardiovascular diseases, including coronary artery disease, arrhythmia, and cardiomyopathies.ConclusionGenetic factors are as important as environmental factors and they should be tested and evaluated more in the future by improving in genetic testing tools.Supplementary informationThe online version contains supplementary material available at 10.1007/s40200-021-00840-0.
| S-EPMC8630142 | biostudies-literature
Project description:The past decade has seen tremendous advances in our understanding of the genetic factors influencing response to a variety of drugs, including those targeted at treatment of cardiovascular diseases. In the case of clopidogrel, warfarin, and statins, the literature has become sufficiently strong that guidelines are now available describing the use of genetic information to guide treatment with these therapies, and some health centers are using this information in the care of their patients. There are many challenges in moving from research data to translation to practice; we discuss some of these barriers and the approaches some health systems are taking to overcome them. The body of literature that has led to the clinical implementation of CYP2C19 genotyping for clopidogrel, VKORC1, CYP2C9; and CYP4F2 for warfarin; and SLCO1B1 for statins is comprehensively described. We also provide clarity for other genes that have been extensively studied relative to these drugs, but for which the data are conflicting. Finally, we comment briefly on pharmacogenetics of other cardiovascular drugs and highlight β-blockers as the drug class with strong data that has not yet seen clinical implementation. It is anticipated that genetic information will increasingly be available on patients, and it is important to identify those examples where the evidence is sufficiently robust and predictive to use genetic information to guide clinical decisions. The review herein provides several examples of the accumulation of evidence and eventual clinical translation in cardiovascular pharmacogenetics.
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Project description:The brain and nervous system are important targets for immune-mediated damage in systemic lupus erythematosus (SLE), resulting in a complex spectrum of neurological syndromes. Defining nervous system disease in lupus poses significant challenges. Among the difficulties to be addressed are a diversity of clinical manifestations and a lack of understanding of their mechanistic basis. However, despite these challenges, progress has been made in the identification of pathways which contribute to neurological disease in SLE. Understanding the molecular pathogenesis of neurological disease in lupus will inform both classification and approaches to clinical trials.
| S-EPMC5997834 | biostudies-other
Project description:Sickle cell disease (SCD) is a monogenetic disease but has a wide range of phenotypic expressions. Some of these differences in phenotype can be explained by genetic polymorphisms in the human globin gene. These polymorphisms can result in different responses to typical treatment, sometimes leading to inadequate therapeutics. Research is revealing more polymorphisms, and therefore, new targets for intervention to improve outcomes in SCD. This area of pharmacogenomics is continuing to develop. We provide a brief review of the current literature on pharmacogenomics in SCD and possible targets for intervention.
| S-EPMC5656342 | biostudies-literature
Project description:Personalized Medicine has the potential to improve health outcomes and reduce the cost of care; however its adoption has been slow in Canada. Bridgepoint Health is a complex continuous care provider striving to reduce the burden of polypharmacy in chronic patients. The main goal of the study was to explore the feasibility of utilizing personalized medicine in the treatment of chronic complex patients as a preliminary institutional health technology assessment. We analyzed stroke treatment optimization as a clinical indication that could serve as a "proof of concept" for the widespread implementation of pharmacogenetics. The objectives of the study were three-fold:1. Review current practice in medication administration for stroke treatment at Bridgepoint Health2. Critically analyze evidence that pharmacogenetic testing could (or could not) enhance drug selection and treatment efficacy for stroke patients;3. Assess the cost-benefit potential of a pharmacogenetic intervention for stroke.Review current practice in medication administration for stroke treatment at Bridgepoint HealthCritically analyze evidence that pharmacogenetic testing could (or could not) enhance drug selection and treatment efficacy for stroke patients;Assess the cost-benefit potential of a pharmacogenetic intervention for stroke.We conducted a review of stroke treatment practices at Bridgepoint Health, scanned the literature for drug-gene and drug-outcome interactions, and evaluated the potential consequences of pharmacogenetic testing using the ACCE model.There is a substantial body of evidence suggesting that pharmacogenetic stratification of stroke treatment can improve patient outcomes in the long-term, and provide substantial efficiencies for the healthcare system in the short-term. Specifically, pharmacogenetic stratification of antiplatelet and anticoagulant therapies for stroke patients may have a major impact on the risk of disease recurrence, and thus should be explored further for clinical application. Bridgepoint Health, and other healthcare institutions taking this path, should consider launching pilot projects to assess the practical impact of pharmacogenetics to optimize treatment for chronic continuous care.
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Project description:Alzheimer's disease (AD) is the leading cause of dementia and sixth cause of death in elderly adults. AD poses a huge economic burden on society and constitutes an unprecedented challenge for caregivers and families affected. Aging of the population is projected to drastically aggravate the situation in the near future. To date, no therapy is available to prevent or ameliorate the disease. Moreover, several clinical trials for promising therapeutic agents have failed. Lack of supporting biomarker data for pre-symptomatic enrollment and inaccurate stratification of patients based on genetic heterogeneity appear to be contributing factors to this lack of success. Recently, the treatment of cancer has seen enormous advances based on the personalized genetics and biomarkers of the individual patient, forming the foundation of precision medicine for cancer. Likewise, technological progress in AD biomarker research promises the availability of reliable assays for pathology staging on a routine basis relatively soon. Moreover, tremendous achievements in AD genetics and high-throughput genotyping technology allow identification of predisposing risk alleles accurately and on a large scale. Finally, availability of electronic health records (EHR) promises the opportunity to integrate biomarker, genomic and clinical data efficiently. Together, these advances will form the basis of precision medicine for AD.
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Project description:Parkinson's disease (PD) presents varying motor and non-motor features in each patient owing to their different backgrounds, such as age, gender, genetics, and environmental factors. Furthermore, in the advanced stages, troublesome symptoms vary between patients due to motor and non-motor complications. The treatment of PD has made great progress over recent decades and has directly contributed to an improvement in patients' quality of life, especially through the progression of advanced treatment. Deep brain stimulation, radiofrequency, MR-guided focused ultrasound, gamma knife, levodopa-carbidopa intestinal gel, and apomorphine are now used in the clinical setting for this disease. With multiple treatment options currently available for all stages of PD, we here discuss the most recent options for advanced treatment, including cell therapy in advanced PD, from the perspective of personalized medicine.
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Project description:Early identification of coronary atherosclerotic pathogenic mechanisms is useful for predicting the risk of coronary heart disease (CHD) and future cardiac events. Epigenome changes may clarify a significant fraction of this "missing hereditability", thus offering novel potential biomarkers for prevention and care of CHD. The rapidly growing disciplines of systems biology and network science are now poised to meet the fields of precision medicine and personalized therapy. Network medicine integrates standard clinical recording and non-invasive, advanced cardiac imaging tools with epigenetics into deep learning for in-depth CHD molecular phenotyping. This approach could potentially explore developing novel drugs from natural compounds (i.e. polyphenols, folic acid) and repurposing current drugs, such as statins and metformin. Several clinical trials have exploited epigenetic tags and epigenetic sensitive drugs both in primary and secondary prevention. Due to their stability in plasma and easiness of detection, many ongoing clinical trials are focused on the evaluation of circulating miRNAs (e.g. miR-8059 and miR-320a) in blood, in association with imaging parameters such as coronary calcifications and stenosis degree detected by coronary computed tomography angiography (CCTA), or functional parameters provided by FFR/CT and PET/CT. Although epigenetic modifications have also been prioritized through network based approaches, the whole set of molecular interactions (interactome) in CHD is still under investigation for primary prevention strategies.
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