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Геномический диагноз детских расстройств: революция и эволюция.

Мощные, последние достижения в технологиях анализа генома оказали глубокое воздействие на практику медицинской генетики как в лаборатории, так и в клинике. Более широкое использование общегеномных тестов, таких, как анализ хромосомных микроарра и последовательность экзомов, привело к переходу к "генотипному" подходу. В настоящее время имеются многочисленные методы диагностики конкретного синдрома или фенотипа, и, хотя традиционные методы остаются эффективными инструментами в некоторых ситуациях, технологии с более высокой производительностью фактически стали лабораторным инструментом диагности

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… The early explosion of tools for DNA analysis presented tantalizing possibilities to understand the genetic basis of disease, and then in 1991 The Human Genome Project was officially launched, with the goal of “Understanding Our Genetic Inheritance” by sequencing all of the bases in the human genome … As the human genome project was progressing, several technical advances in genetic analysis were also introduced that have had wide impact on genomic diagnostics including CMA and NGS, paving the way for clinical exome sequencing (ES) and genome sequencing (GS) ( 19 , 62 – 64 ). …

Immune infiltration related PRDX4 facilitates the malignant features and drug resistance of breast cancer.

The incidence of breast cancer continues to increase annually, posing a significant challenge for countries worldwide in terms of its prevention and treatment. Therefore, identifying novel therapeutic targets for breast cancer is urgently needed. The peroxiredoxin (PRDX) family is regarded as a good diagnostic marker for various tumors. However, the expression and prognostic significance of PRDX family members in breast cancer remain unclear and require systematic investigation. By using bioinformatic tools such as UALCAN, TIMER2.0, Human Protein Atlas Project (HPA), Gene Set Cancer Analysis (

Взаимодействие полов и генотипов в ассоциациях по борьбе с заболеваниями: комплексный сетевой анализ в Биобанке Соединенного Королевства.

СПРАВОЧНАЯ ИНФОРМАЦИЯ: Сопоставимость заболеваний и более долгосрочные осложнения, обусловленные биологическими связями между фенотипами, могут привести к повышению риска серьезных последствий для здоровья. С учетом того, что многие болезни отличаются по признаку пола в их генетике, наша цель состояла в том, чтобы определить, влияют ли связи генотипа в разбивке по полу (GxS) аналогичным образом на межфенотипные ассоциации. Путем сопоставления сетей по борьбе с болезнями, которые были зарегистрированы на сексуальной почве, где узлы представляют собой болезни и края, представляют собой их взаимо

Correlation of long non-coding RNA expression with metastasis, drug resistance and clinical outcome in cancer.

The therapeutic response and clinical outcome of patients diagnosed with the same cancer type and that receive identical treatment is highly variable to reflect the genetic heterogeneity within tumor cells. Non-coding RNAs (ncRNAs) are recently discovered molecules that regulate eukaryotic gene expression and represent a significant advance towards a better understanding of the mechanisms that govern cellular growth. NcRNAs are essential for the proper regulation of cell proliferation and survival under physiologic conditions and are deregulated in many pathologies, e.g., human cancers. NcRNAs

Molecular Classification and Pharmacogenetics of Primary Plasma Cell Leukemia: An Initial Approach toward Precision Medicine.

Primary plasma cell leukemia (pPCL) is a rare and aggressive variant of multiple myeloma (MM) which may represent a valid model for high-risk MM. This disease is associated with a very poor prognosis, and unfortunately, it has not significantly improved during the last three decades. New high-throughput technologies have allowed a better understanding of the molecular basis of this disease and moved toward risk stratification, providing insights for targeted therapy studies. This knowledge, added to the pharmacogenetic profile of new and old agents in the analysis of efficacy and safety, could

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… The completion of the human genome project in 2003 and the use of “omics” technologies, such as microarray and NGS, has allowed medical research to progressively identify and improve the use of biomarkers in clinical practice. …

Conference Proceedings - 6th International Conference on Molecular Diagnostics and Biomarker Discovery (MDBD 2022): Building Resilience in Biomedical Research : Penang, Malaysia. 11-13 October 2022.

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Clinical decision support in hematological malignancies using a case-grounded AI agent.

Multidisciplinary tumor boards integrate longitudinal treatment histories, molecular profiling and rapidly evolving evidence to guide decisions in hematological malignancies, yet access to this level of subspecialty deliberation is increasingly uneven. Here we develop HemaGuide, a locally deployable, modular large language model agent that converts unstructured clinical documents into structured case representations, autonomously routes cases to specialized decision modes ('guideline', 'advanced' and 'molecular') and grounds recommendations in disease-specific guideline flowcharts and a clinic

Contemporary Perspectives on Chronic Renal Disorders.

The prevalence of renal diseases and its associated burden on healthcare have tremendously risen in the past few years. From simple markers assessing kidney function, current renal research delves into understanding the diseases at the cellular and molecular levels and not just at treating, but at improving quality of life, arresting progression and providing personalized diagnostics and therapy. This narrative review highlights the improvements in diagnostic applications of kidney disease and briefly discusses a few notable biomarkers emphasizing the high throughput omics technologies, as wel

Noncoding RNAs improve the predictive power of network medicine.

Network medicine has improved the mechanistic understanding of disease, offering quantitative insights into disease mechanisms, comorbidities, and novel diagnostic tools and therapeutic treatments. Yet, most network-based approaches rely on a comprehensive map of protein-protein interactions (PPI), ignoring interactions mediated by noncoding RNAs (ncRNAs). Here, we systematically combine experimentally confirmed binding interactions mediated by ncRNA with PPI, constructing a comprehensive network of all physical interactions in the human cell. We find that the inclusion of ncRNA expands the nu

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… Two decades after the Human Genome Project, there is overwhelming evidence that noncoding genes and ncRNAs regulate multiple biological processes and functions, playing important roles in multiple diseases, and hence must be incorporated into the network medicine framework. … Barabási , A wealth of discovery built on the Human Genome Project—By the numbers . Nature 590 , 212 – 215 ( 2021 ). 33568828 10.1038/d41586-021-00314-6 21 D. Alonso-López , APID database: redefining protein–protein interaction experimental evidences and binary interactomes . …

PTGS2 as a potential target for apigenin to promote spinal cord injury repair.

Spinal cord injury (SCI) is characterized by damage to the spinal cord caused by various reasons, and there is a lack of effective drug treatments. Apigenin, a well-known natural small molecule drug, may serve as a therapeutic agent for a variety of diseases. However, the potential mechanisms by which Apigenin exerts its effects in SCI remain unclear. By utilizing an integrative multiomics strategy that combines network pharmacology, Mendelian randomization, and single-cell transcriptomic profiling, we established a systems-level target identification framework. Mechanistic analysis revealed a

Nanomedicine for cancer patient-centered care.

Cancer is a leading cause of morbidity and mortality worldwide, and an increase in incidence is estimated in the next future, due to population aging, which requires the development of highly tolerable and low-toxicity cancer treatment strategies. The use of nanotechnology to tailor treatments according to the genetic and immunophenotypic characteristics of a patient's tumor, and to allow its targeted release, can meet this need, improving the efficacy of treatment and minimizing side effects. Nanomedicine-based approach for the diagnosis and treatment of cancer is a rapidly evolving field. Se

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… (a) Human Genome Project . … The Human Genome Project: big science transforms biology and medicine . Genome Med . 2013 ; 5 ( 9 ): 79 . 24040834 10.1186/gm483 PMC4066586 12 Mardis ER . The impact of next‐generation sequencing on cancer genomics: from discovery to clinic . …

Unravelling Osteoporosis: Key Genes and Potential Therapies.

Osteoporosis is a metabolic bone disease characterised by decreased bone mass and increased fracture risk, especially in aging women. Current treatments have limitations and side effects, prompting the need for novel therapeutic targets. Using Mendelian randomisation (MR) on the basis of GWAS data from the FinnGen consortium, we identified druggable genes associated with osteoporosis. Transcriptomic profiling, single-cell RNA sequencing (scRNA-seq) and immune infiltration analysis were employed to explore gene expression patterns and immune relevance. Gene set enrichment analysis and gene set

TCF12 and LncRNA MALAT1 Cooperatively Harness High Cyclin D1 but Low β-Catenin Gene Expression to Exacerbate Colorectal Cancer Prognosis Independently of Metastasis.

Metastasis is a well-known factor worsening colorectal cancer (CRC) prognosis, but mortality mechanisms in non-metastatic patients with poor outcomes are less understood. TCF12 is a transcription factor that can be physically associated with the long non-coding RNA MALAT1, creating an alliance with correlated expression levels in CRC patients. This TCF12-MALAT1 alliance is linked to poorer prognosis independently of age and metastasis. To identify the downstream effects responsible for this outcome, we analyzed 2312 common target genes of TCF12 and MALAT1, finding involvement in pathways like

Histone Modifier KANSL2 является практически осуществимым биомаркером в Мультимиломе.

Эпигенетические отклонения являются ключевыми движущими силами множественной миеломы, однако адресная терапия, использующая эпигенетические изменения, еще не установлена. Объединяя клинические и молекулярные наборы пациентов с множественной миеломой с непредвзятым генетическим экраном в vivo, мы определили подгруппу 2 (KANSL2) КАТ8, регулирующую комплекс NSL, как гистонную послетрансляционную модификацию, связанную с онкогене. Высокое выражение KANSL2 было связано с неблагоприятным прогнозом у пациентов с множественной миеломой. Генетические модели " наживы " и " потери функцион

Mechanism-based prediction of drug synergy via network controllability analysis of therapeutic pathways in intractable diseases.

Identifying effective drug combinations for multidrug therapies in intractable diseases remains challenging, and drug synergy depends on regulatory mechanisms. Herein, we introduce a mechanistic framework that redefines drug combination strategies into two distinct synergy paradigms-"boost" and "complement"-and present a network-based method called SYNERGIE to predict associated combinations across diseases. For diseases lacking known therapeutic targets, we introduced network controllability analysis to estimate therapeutic pathways and target molecules. SYNERGIE integrates drug-disease and d

Унификация одиссеи: искусственный интеллект для диагностирования и лечения редких заболеваний.

Подытожить текущие проблемы в диагностике и лечении редких заболеваний (РД), осветить последние достижения в области искусственного интеллекта (АИ) для РД и предложить модель будущего состояния лечения пациентов РД. Многодисциплинарный экспертный обзор с кратким изложением современных практических задач и мер по ограничению ставок в области РД-клиентов с учетом ключевых клинических и исследовательских соображений в отношении нормативных и экономических ограничений. 10,000 известные РД оказывают коллективное воздействие 1 В 10 Американцы, в целом 30 million Люди. Ежегодно на РД приходится свыше

Association between circulating inflammatory proteins and temporomandibular disorders: insight from a two-sample Mendelian randomization analysis.

BackgroundPast studies have indicated links between specific inflammatory proteins in the bloodstream and temporomandibular disorders (TMDs). Nonetheless, there remains the need for further solid research pinpointing the exact causes behind these associations. This Mendelian randomization (MR) study aims to examine the association between 91 circulating inflammatory proteins and TMDs.MethodologyThe most comprehensive genome-wide association studies available for circulating inflammatory proteins and TMDs was used in this two-sample MR analysis. The association between genetic predispositions t

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… The completion of the Human Genome Project has significantly advanced our understanding of disease-associated genes by functional genomics. …

Targeted drug combination therapy design based on driver genes.

Targeted therapies against cancer types with more than one driver gene hold bright but elusive promise, since approved drugs are not available for all driver mutations and monotherapies often result in resistance. Targeting multiple driver genes in different pathways at the same time may provide an impact extensive enough to fight resistance. Our goal was to find synergistic drug combinations based on the availability of targeted drugs and their biological activity profiles and created an associated compound library based on driver gene-related protein targets. In this study, we would like to

Large-Scale Plasma Proteomics and Genetic Integration Uncover Novel Biological Pathways in Male Pattern Baldness.

Male pattern baldness (MPB) is a highly prevalent condition with a complex, poorly understood molecular basis that limits therapeutic innovation. This study aimed to bridge the gap between statistical genetic associations and biological function by identifying and prioritizing causal proteins and pathways involved in MPB. Using data from 24,069 men in the UK Biobank, we performed a proteome-wide association study of 2911 plasma proteins with self-reported MPB severity via multivariable ordinal logistic regression, adjusting for age, Body Mass Index (BMI), ethnicity, lifestyle, socioeconomic fa

Investigation of Some Long Noncoding RNAs (LncRNAs) in Pediatric Inflammatory Bowel Disease (IBD): An Iranian Study.

Introduction: According to the importance of long noncoding RNAs (LncRNA) in the pathogenesis of inflammatory bowel disease (IBD) and also the lack of study for pediatric IBD in this regard, we investigated the expression of a selected panel of LncRNAs in Iranian pediatric cases of IBD compared to adult cases and healthy samples. Methods: In this gene expression study, blood samples were taken from the three groups of pediatric IBD cases, adult IBD cases, and pediatric healthy samples (for gene expression calibration). The investigated LncRNAs were UCA1, CCAT, IFNG-AS1, and CDKN2B. Real-time P