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COVID-19-Omics Report: From Individual Omics Approaches to Precision Medicine.

During the COVID-19 pandemic, it became apparent that precision medicine relies heavily on biological multi-omics discoveries. High throughput omics technologies, such as host genomics, transcriptomics, proteomics, epigenomics, metabolomics/lipidomics, and microbiomics, have become an integral part of precision diagnostics. The large number of data generated by omics technologies allows for the identification of vulnerable demographic populations that are susceptible to poor disease outcomes. Additionally, these data help to pinpoint the omics-based biomarkers that are currently driving advanc…

Is ketogenic diet a 'precision medicine'? Recent developments and future challenges.

Recently, precision medicine has attracted much attention in the management of epilepsies, but it remains unclear if the increasingly utilized ketogenic diet approaches can truly be considered precision medicine in all epilepsy treatment. Currently, it is the standard treatment for patients with GLUT1 deficiency and the latest NICE guidelines highlight ketogenic diet as a therapeutic option for multi-drug resistant epilepsy patients. Ketogenic diet is presumed to be a precision medicine tool when applied to the treatment of seizures secondary to GLUT1 transporter deficiency. In contrast, the g…

Intervertebral Disc Degeneration: Biomaterials and Tissue Engineering Strategies toward Precision Medicine.

Intervertebral disc degeneration is a common cause of discogenic low back pain resulting in significant disability. Current conservative or … iew gives insights into the understanding of intervertebral disc pathology, the emerging concept of precision medicine, and the rationale of personalized biomaterial-based tissue engineering tailored to the severity of the disease targeting early, mild, or severe degeneration, thereby enhancing the efficacy of the treatment for disc regeneration and ultimately to al …

Muscle Biopsy: A Requirement for Precision Medicine in Adult-Onset Myopathy.

Muscle biopsy is a fundamental procedure to assist the final diagnosis of myopathy. With the recent advances in molecular diagnosis, serolog … ill undoubtedly critically guided the diagnosis and treatment of adult-onset myopathy in the era of precision medicine.

Optimisation of anti-interleukin-6 therapy: Precision medicine through mathematical modelling.

BackgroundDysregulated interleukin (IL)-6 production can be characterised by the levels present, the kinetics of its rise and its inappropriate location. Rapid, excessive IL-6 production can exacerbate tissue damage in vital organs. In this situation, therapy with an anti-IL-6 or anti-IL-6 receptor (IL-6R) monoclonal antibody, if inappropriately dosed, may be insufficient to fully block IL-6 signalling and normalise the immune response.MethodsWe analysed inhibition of C-reactive protein (CRP) - a biomarker for IL-6 activity - in patients with COVID-19 or idiopathic multicentric Castleman disea

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… Dynamic immune/inflammation precision medicine: the good and the bad inflammation in infection and cancer . Front Immunol ( 2021 ) 12 : 595722 . doi: 10.3389/fimmu.2021.595722 33708198 PMC7940508 2 Kishimoto T . IL-6: from its discovery to clinical applications . …

Glomerular Diseases of the Kidney Allograft: Toward a Precision Medicine Approach.

The continual development of potent immunosuppressive regimens has led to a decreased incidence of acute rejection and improvement of short-term kidney allograft survival. In contrast to acute rejection, glomerular diseases of the kidney allograft are being encountered more frequently and are emerging as leading causes of late kidney allograft failure. Although data on the pathogeneses of glomerular diseases in the kidney allograft are sparse, cumulative evidence suggests that post-transplant glomerular diseases may be the result of inherited predispositions and immunologic triggers. Although

Precision Medicine Approaches to Cardiac Arrhythmias: JACC Focus Seminar 4/5.

In the initial 3 papers in this Focus Seminar series, the fundamentals and key concepts of precision medicine were reviewed, followed by a focus on precision medicine in the context of vascular disease and cardiomyopathy. For the remaining 2 papers, we focus on precision medicine in the context of arrhythmias. Specifically, in this fourth paper we focus on long QT syndrome, Brugada syndrome, and atrial fibrillation. The final (fifth) paper will deal with catecholaminergic polymorphic ventricular tachycardia. These arrhythmias represent a spectrum of disease ranging from common to relatively ra…

Precision medicine approach to dialysis including incremental and decremental dialysis regimens.

PURPOSE OF REVIEW: Conventional standardization of haemodialysis for treatment of end-stage kidney disease (ESKD) is predicated upon the fixed construct of one disease stage and one patient category. Increasingly recognized are subgroups of patients for whom less-intensive haemodialysis, such as incremental or decremental haemodialysis, could be employed. RECENT FINDINGS: Almost 30% of patients with incident ESKD have clinical and residual kidney function (RFK) parameters that could accommodate less-intensive haemodialysis. In one study, patients with incident ESKD and substantial RKF treated

Precision Medicine Approaches to Vascular Disease: JACC Focus Seminar 2/5.

In this second of a 5-part Focus Seminar series, we focus on precision medicine in the context of vascular disease. The most common vascular disease worldwide is atherosclerosis, which is the primary cause of coronary artery disease, peripheral vascular disease, and a large proportion of strokes and other disorders. Atherosclerosis is a complex genetic disease that likely involves many hundreds to thousands of single nucleotide polymorphisms, each with a relatively modest effect for causing disease. Conversely, although less prevalent, there are many vascular disorders that typically involve o…

Precision Medicine in Kidney Transplantation: Just Hype or a Realistic Hope?

Desirable outcomes including rejection- and infection-free kidney transplantation are not guaranteed despite current strategies for immunosuppression and using prophylactic antimicrobial medications. Graft survival depends on factors beyond human leukocyte antigen matching such as the level of immunosuppression, infections, and management of other comorbidities. Risk stratification of transplant patients based on predisposing genetic modifiers and applying precision pharmacotherapy may help improving the transplant outcomes. Unlike certain fields such as oncology in which consistent attempts a

Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine.

Biochemical studies performed during the last decades resulted in the development of various innovative medicinal products for hereditary an … C1-INH, and environmental effect on the disease expression. Therefore, it seems that the stage for Precision Medicine era in HAE management is ready. Disease endotypes are expected to be uncovered and specified targets for therapeutic intervention will be detected, promising a more effective, individualized management of the disease.

Human biomimetic liver microphysiology systems in drug development and precision medicine.

Microphysiology systems (MPS), also called organs-on-chips and tissue chips, are miniaturized functional units of organs constructed with mu … d MPS with known genotypes and fully matured adult phenotypes will lead to advanced applications in precision medicine. In this Review, we examine human biomimetic liver MPS that are designed to recapitulate the liver acinus structure and functions to enhance our knowledge of the mechanisms of disease progression and of the absorption, distribution, metabolism, excr …

A Path Toward Precision Medicine for Neuroinflammatory Mechanisms in Alzheimer's Disease.

Neuroinflammation commences decades before Alzheimer's disease (AD) clinical onset and represents one of the earliest pathomechanistic alter … developing individualized therapeutic strategies targeting neuroinflammation under the framework of precision medicine.

Precision Medicine to Treat Advanced Gastroesophageal Adenocarcinoma: A Work in Progress.

Gastroesophageal adenocarcinoma (GEA) represents a heterogeneous disease and, when diagnosed as locally advanced or metastatic, it is characterized by poor prognosis. During the last few years, several molecular classifications have been proposed to try to personalize treatment for those patients diagnosed with advanced disease. Nevertheless, despite the great effort, precision medicine is still far from being a reality. The improvement in the molecular analysis due to the application of high throughput technologies based on DNA and RNA sequencing has opened a novel scenario leading to the per…

Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.

Junctional epidermolysis bullosa (JEB) is a hereditary blistering disease caused by reduced dermal-epidermal adhesion due to deficiencies of one of the proteins, laminin-332, type XVII collagen, integrin α6β4 or integrin α3. Significant progress has been achieved in the development of therapies for EB, such as bone-marrow transplantation, local or systemic injections with fibroblasts or mesenchymal stromal cells, readthrough of premature termination codons, or exon skipping. These were tailored in particular for dystrophic EB, which is caused by type VII collagen deficiency and have not yet re

Precision Medicine Applications to Manage Multiply Injured Patients With Orthopaedic Trauma.

Precision medicine offers potential for improved outcomes by tailoring interventions based on patient-specific demographics and disease-specific data. Precision methods are relatively unexplored in trauma patients. New research is being looked at for precision methods to treat patients with large extremity wounds, nonunions, and fractures associated with polytrauma. Precision-based clinical decision tools are being validated to optimize timing for open wound definitive closure. Early patient-specific biomarkers to stratify nonunion risk within 1 week of fracture are being explored. Patient-spe…

Paradigm shift for the treatment of hereditary haemophilia: Towards precision medicine.

Patients with haemophilia A (HA) or B (HB) experience spontaneous limb- or life-threatening bleedings which are prevented by regular prophylactic intravenous infusions of the deficient coagulation factor (FVIII or FIX). Prophylaxis with subcutaneous long-acting non-factor products that improve in vivo thrombin generation is now under intensive investigation (concizumab, fitusiran) or successfully employed (emicizumab) in haemophilia patients. Both haemophilia patients with/without inhibitors take advantage of non-factor products employed alone. In those who also need bypassing agents (or FVIII

Precision medicine in psoriatic arthritis: how should we select targeted therapies?

Psoriatic arthritis (PsA) is a heterogeneous inflammatory arthritis associated with psoriasis. Patients manifest variable presentations with potential involvement of peripheral joints, spine, tendons, skin, and nails. There has been a rapid expansion in targeted treatment options for patients with PsA, but typically less than half of those who receive therapy achieve optimal treatment targets. Many patients respond to second-line or third-line biological therapies, but little evidence exists to guide the choice of therapeutics for each individual. At present, choice of therapy is driven by act