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Leveraging genotypes and phenotypes to implement precision medicine in hidradenitis suppurativa management.

Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition with many unmet needs. It is characterized by significant clinical heterogeneity, which suggests that a diagnosis of HS captures multiple distinct disease entities and that research aimed at identifying medically relevant HS subtypes will improve its management. Precision medicine is an approach to disease management that uses information encoded in a patient's genome, and operationalized in clinical presentations and drug responses, to identify disease subtypes. Prior research aimed at identifying HS subtypes has largely f…

Towards precision medicine for otology and neurotology: Machine learning applications and challenges.

Advances in artificial intelligence, particularly machine learning and deep learning, in conjunction with the rise of personalised medicine, … al intelligence tools into clinical practice, underscoring their immense potential to revolutionise precision medicine in otology and neurotology and improve patient outcomes.

Comparative gastrointestinal organoid models across species: A Zoobiquity approach for precision medicine.

Gastrointestinal (GI) health underpins systemic well-being, yet the complexity of gut physiology poses significant challenges to understanding disease mechanisms and developing effective, personalized therapies. Traditional models often fail to capture the intricate interplay between epithelial, mesenchymal, immune, and neuronal cells that govern gut homeostasis and disease. Over the past five years, advances in organoid technology have created physiologically relevant, three-dimensional GI models that replicate native tissue architecture and function. These models have revolutionized the stud

Commercial Diagnostics and Emerging Precision Medicine Technologies in Psoriasis and Atopic Dermatitis.

While psoriasis and atopic dermatitis (AD) are two common dermatological conditions, their diagnosis and therapeutic decision-making pathways are often complex. As a result, there has been increased focus on the development of precision medicine approaches for psoriasis and AD. Two companies at the forefront of dermatology precision medicine research are Mindera Health and Castle Biosciences. Here, we review the technologies developed by these two companies using a dermal diagnostic patch and superficial skin scrapings, respectively, their research published to date, and their future research …

In Vivo Cardiovascular Molecular Imaging: Contributions to Precision Medicine and Drug Development.

Conventional forms of noninvasive cardiovascular imaging that evaluate morphology, function, flow, and metabolism play a vital role in indiv … ellular imaging of phenotype with targeted probes, and their potential to promote the principles of precision medicine. Also addressed are the diverse roles of molecular imaging to improve precision and efficiency of new drug development at the stages of candidate identification, preclinical testing, and clinical trials.

Pazopanib elicits remarkable response in metastatic porocarcinoma: a functional precision medicine approach.

Metastatic porocarcinomas (PCs) are vanishingly rare, highly aggressive skin adnexal tumors with mortality rates exceeding 70%. Their rarity has precluded the understanding of their disease pathogenesis, let alone the conduct of clinical trials to evaluate treatment strategies. There are no effective agents for unresectable PCs. Here, we successfully demonstrate how functional precision medicine was implemented in the clinic for a metastatic PC with no known systemic treatment options. Comprehensive genomic profiling of the tumor specimen did not yield any actionable genomic aberrations. Howev…

Precision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac ion channelopathy where the initial disease presentation is during childhood or adolescent stages, leading to increased risks of sudden cardiac death. Despite advances in medical science and technology, several gaps remain in the understanding of the molecular mechanisms, risk prediction, and therapeutic management of patients with CPVT. Recent studies have identified and validated seven sets of genes responsible for various CPVT phenotypes, including RyR2, CASQ-2, TRDN, CALM1, 2, and 3, and TECRL, providi

Integration of clinical phenoms and metabolomics facilitates precision medicine for lung cancer.

Lung cancer is a common malignancy that is frequently associated with systemic metabolic disorders. Early detection is pivotal to survival improvement. Although blood biomarkers have been used in its early diagnosis, missed diagnosis and misdiagnosis still exist due to the heterogeneity of lung cancer. Integration of multiple biomarkers or trans-omics results can improve the accuracy and reliability for lung cancer diagnosis. As metabolic reprogramming is a hallmark of lung cancer, metabolites, specifically lipids might be useful for lung cancer detection, yet systematic characterizations of m

Precision medicine in chronic rhinosinusitis - using endotype and endotype-driven therapeutic options.

INTRODUCTION: Chronic rhinosinusitis (CRS) is a heterogeneous disease, and its complex pathophysiological characteristics pose a challenge to its clinical treatment. CRS is distinguished not only by clinical phenotype but also by endotype characteristics, which are divided into type 2 CRS and non-type 2 CRS. AREAS COVERED: In this review, we summarize and discuss current studies that depict the mechanisms and endotypes of CRS. In particular, inflammatory cells and the microbiome play a role in the pathophysiology of CRS. We also listed some of the biomarkers described in recent studies that m

Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.

Long QT syndrome (LQTS) is a detrimental arrhythmia syndrome mainly caused by dysregulated expression or aberrant function of ion channels. … ing and high-throughput drug testing using LQTS patient-specific cardiomyocytes herald the upcoming precision medicine in LQTS.

Building a rheumatology biobank for reliable basic/translational research and precision medicine.

Research biobanks are non-profit structures that collect, manipulate, store, analyze and distribute systematically organized biological samples and data for research and development purposes. Over the recent years, we have established a biobank, the Rheumatology BioBank (RheumaBank) headed by the Medicine and Rheumatology unit of the IRCCS Istituto Ortopedico Rizzoli (IOR) in Bologna, Italy for the purpose of collecting, processing, storing, and distributing biological samples and associated data obtained from patients suffering from inflammatory joint diseases. RheumaBank is a research bioban

Precision medicine in laryngeal cancer: protocol of the laryngeal cancer cohort (LARCH).

INTRODUCTION: Laryngeal cancer disproportionately affects socioeconomically disadvantaged patients. Treatment can render a patient nil by mouth or in need of a permanent tracheostomy. In the past 30 years, survival has remained at best static and at worst it has declined. Currently, there is no method of prognosticating how a patient will respond to treatment.The LARyngeal Cancer coHort (LARCH) aims to establish how survival and quality-of-life outcomes compare between surgery and (chemo)radiotherapy in early and advanced laryngeal cancer and how the presenting features of laryngeal cancer inf

Improving public cancer care by implementing precision medicine in Norway: IMPRESS-Norway.

BackgroundMatching treatment based on tumour molecular characteristics has revolutionized the treatment of some cancers and has given hope to many patients. Although personalized cancer care is an old concept, renewed attention has arisen due to recent advancements in cancer diagnostics including access to high-throughput sequencing of tumour tissue. Targeted therapies interfering with cancer specific pathways have been developed and approved for subgroups of patients. These drugs might just as well be efficient in other diagnostic subgroups, not investigated in pharma-led clinical studies, bu

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… Advancing molecular tumour boards: highly needed to maximise the impact of precision medicine. ESMO Open. 2019;4(2):e000516. doi: 10.1136/esmoopen-2019-000516. 19. Tsimberidou AM, et al. … Initiative for molecular profiling and advanced cancer therapy (IMPACT): an MD Anderson precision medicine study. JCO Precis Oncol. 2017 doi: 10.1200/PO.17.00002. 20. NKI. European collaboration. …

Precision medicine in sepsis and septic shock: From omics to clinical tools.

Sepsis is a heterogeneous disease with variable clinical course and several clinical phenotypes. As it is associated with an increased risk … in clinical practice, but together will help in the effective generation and safe implementation of precision medicine in sepsis.

Precision Medicine in Catecholaminergic Polymorphic Ventricular Tachycardia: JACC Focus Seminar 5/5.

In this final of a 5-part Focus Seminar series on precision medicine, we focus on catecholaminergic polymorphic ventricular tachycardia (CPVT). This focus on CPVT allows us to take a "deep dive" and explore the full extent of the precision medicine opportunities for a single cardiovascular condition at a level that was not possible in the preceding articles. As a new paradigm presented in this article, it has become clear that CPVT can occur as either a typical or atypical form. Although there is a degree of overlap between the typical and atypical forms, it is notable that they arise due to d…

Predicting Therapeutic Response in Pediatric Ulcerative Colitis-A Journey Towards Precision Medicine.

Ulcerative colitis (UC) is a disabling disease, characterized by chronic inflammation of the colon, with a rising prevalence worldwide in the pediatric age group. Although UC presents in children with varying severity, disease extent, and comorbidities, initial treatment is essentially uniform, consisting of 5-aminosalicylate drugs with corticosteroid induction for those with moderately to severely active disease. With the advent of anti-tumor necrosis factor (TNF) biologic therapy and several new biologics and small-molecule drugs for UC, precision medicine approaches to treatment are needed …

Multi-omics tumor profiling technologies to develop precision medicine in multiple myeloma.

Multiple myeloma (MM), the second most common hematologic cancer, is caused by accumulation of aberrant plasma cells in the bone marrow. Its molecular causes are not fully understood and its great heterogeneity among patients complicates therapeutic decision-making. In the past decades, development of new therapies and drugs have significantly improved survival of MM patients. However, resistance to drugs and relapse remain the most common causes of mortality and are the major challenges to overcome. The advent of high throughput omics technologies capable of analyzing big amount of clinical a

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… These studies paved the way for the advent of genomics based-precision medicine in MM. Table 2. … The importance of proteomics for precision medicine in MM has been recently reviewed elsewhere [ 285 ]. Metabolomics Altered metabolism is one of the hallmarks of cancer [ 286 ]. …

Designing precision medicine panels for drug refractory cancers targeting cancer stemness traits.

Cancer is one amongst the major causes of death today and cancer biology is one of the most well researched fields in medicine. The driving … relapse. Predictive medicine approach based on the plethora of CSC markers would be a move towards precision medicine to specifically identify CSC-rich tumors. In this review, we discuss the cancer subtypes and the role of different CSC specific markers in these varying subtypes. We also categorize the CSC markers based their defining trait contributing to stemness …

Practicing precision medicine with intelligently integrative clinical and multi-omics data analysis.

Precision medicine aims to empower clinicians to predict the most appropriate course of action for patients with complex diseases like cancer, diabetes, cardiomyopathy, and COVID-19. With a progressive interpretation of the clinical, molecular, and genomic factors at play in diseases, more effective and personalized medical treatments are anticipated for many disorders. Understanding patient's metabolomics and genetic make-up in conjunction with clinical data will significantly lead to determining predisposition, diagnostic, prognostic, and predictive biomarkers and paths ultimately providing …