Precision Medicine and Human Health

Personalized medicine, also referred to as precision medicine, deals with a clinical model that delineates patients into different groups based on their ethnicity, lifestyle, food habits, medical history, drug reaction, comorbidity, the robustness of the immune system, age, gender, and proneness to infection, overall psyche and attitude towards life. Further, emotions, social interactions and life experiences culminating into overall happiness play an important role in the life of a person. Thus, an emotionally strong and happy person is usually healthy. Taking all these above factors into consideration and with accurate diagnosis, a drug may be prescribed more in tune with the uniqueness of the patient’s genome. Since everybody, whether diseased or healthy, has a unique genome, this uniqueness must be utilized in deciding the drug, dose and its long-term effects. Healing and cure should address the root cause of the problem instead of working only on the symptoms to provide short-term relief. In addition, repurposing of the drug which is not an old concept should also be carefully explored because with this approach, a large number of already available drugs may be used for a much wider number of diseases than the medicine originally developed for. This will also help reduce the cost of the development of medicine. Finally, clinicians and doctors should be sensitized to the concept of precision medicine and its less obvious sub-disciplines. This is envisaged to provide better, more accurate diagnosis and may result in better treatment. The medical field, besides being a deep science is also an art starting from how to deal with diverse types of patients of different backgrounds and educate them all the way to instill a sense of confidence and then to prescribe the medicine to cure the disease. Seemingly, within the realm of precision medicine, it is a huge task. However, it is possible to collect and analyze diagnostic data to reach a consensus. This would require the involvement of clinical psychologists and genetic counselors in a hospital setting ensuring that patient care is holistic, taking into account both the physical and psychological aspects of health. This integrated approach can lead to improved patient care and long-term well-being.

Studies on epigenetics have shown cell control, gene function, and putative change or modification in the DNA's sequence. Genes are prone to changes that are brought about by a number of mechanisms encompassing gene conversion, exon/intron reshuffling, alteration in the mutational landscape, and copy number variation of the genes. In addition, repeat DNA sequences tend to expand or shrink changing the topology of adjacent genes resulting in a change in their functions. Alterations in gene activity, especially those that are brought on by epigenetic errors, frequently cause genetic diseases. Researchers are particularly interested in how epigenetic modifications and mistakes affect gene function, protein synthesis, and human health. Precise mapping and evaluation of epigenetic biomarkers will enhance treatment approaches by enabling more accurate and early diagnosis prior to a change in the genetical landscape. This chapter covers the topics of genomics, bioinformatics and epigenetic clocks that pave the way to personalized medicine. It is envisaged that a deeper understanding of the epigenetic modification of the genome or its aberration would augment our understanding of the function of the normal and diseased human genomes.

Liver cancer ranks sixth among the most commonly diagnosed malignancies and 90% of liver cancer cases are of Hepatocellular carcinoma (HCC). Treatment options for HCC include resection, radiotherapy, and systemic therapies with chemotherapeutic drugs. The late diagnosis of HCC prevents successful treatment by surgical resection. Further, conventional treatment modalities such as chemotherapy and radiotherapy are ineffective in all patients as tumors are heterogeneous. The heterogeneous nature of tumors enables them to have genetic variations and express specific proteins in different patients. This inherent variability of cancer creates the need to move to a growing field of medicine, i.e., precision/personalized medicine. Precision medicine is based on complementing the molecular profile of a patient to a targeted therapy. In clinical practice, the transition from a stage-based approach to a targeted therapy-based approach is necessary for determining the most appropriate treatment plan for a patient. The clinical outcomes for patients could be improved on a large scale if the discoveries in tumour biology are applied efficiently in clinics. This chapter discusses the research on precision medicine for improving treatment outcomes in HCC patients, especially advanced cancers. It also includes the clinical studies of novel therapeutics used for the targeted therapy of advanced liver cancer patients. Concisely, we summarize the recent studies on the applications of precision and personalized medicine.

The aggregation of protein is a complex process influenced by various factors resulting in a wide range of debilitating disorders. These are characterized by the deposition of insoluble plaques consisting of amyloid fibrils rich in β-sheet structures. Many natural proteins form amyloid fibrils and build-up misfolded or aggregated disease-specific proteins in the tissues causing human diseases. The present chapter deals with protein structures, aggregation, misfolding, induction factors, and their involvement in human disease and implications in precision medicine. We have discussed the role of functional amyloids in portraying the mechanism of its formation, highlighting the method of detection of diverse types of aggregates. Moreover, we also contextualized therapeutic strategies to combat the process of aggregation keeping in view that this is a broad field of research that ranges from biophysics to clinical trials. Despite visible progress in the field of biochemistry, we still have questions regarding the aggregation and co-aggregation of protein molecules. However, with the present level of knowledge, it is envisaged that accurate treatments against diseases related to aggregation would be feasible in near future.

Proteins are functional in their three-dimensional form; any type of modification in the conformation of the protein affects its functions. Thus, the role of the proteins in the body depicts the functional ability and ensures health of an organism. Besides its presence in the body, proteins are consumed by the body in the form of dietary uptake. The free amino group of the protein in the body when interacting with the carbonyl group of the reducing sugar follows the Maillard reaction to produce hazardous by-products which is an advanced glycation end products (AGEs). The process of AGEs formation routes towards the aggregation process. Different studies have shown different aggregation pathways, some restricting the partial unfolding of the protein and the other oligomerization leading to fibril formation depending upon the conditions of the study. It is noteworthy that in in-vivo cases, glycation and aggregation are the two sides of the same coin because it is obvious that we have seen the diseased condition due to AGEs formation that also shows aggregation or vice versa. Hence, the two causative agents depend upon each other.

Helicobacter pylori (H. pylori) is a Gram-negative, slow-growing microaerobic bacterium that infects over 50% of the global population. Around 58,000 years ago, H. pylori and humans co-evolved and migrated from East Africa, the original birthplace of Homo sapiens. Its distinct characteristics, such as urease, helical structure, and motile flagella, allow it to survive in the human stomach under stressful conditions. The occurrence of H. pylori in the stomach can be beneficial or detrimental to human health, depending on the host's genetic vulnerability, immunity, and environmental factors. Although most of the H. pylori-infected patients are asymptomatic, about 20% develop stomach illnesses such as peptic ulcer (10-15%), gastric adenocarcinoma (1-3%), and mucosa-associated lymphoid tissue (MALT) lymphoma that is common to aged people. People who do not have H. pylori infection, on the other hand, are predisposed to a variety of diseases, including gastric esophageal disease (GERD), oesophageal cancer, diabetes mellitus, and asthma. Clinical symptoms in infected patients vary significantly geographically due to the high level of genetic variation in the bacterial genome and the presence of numerous virulence factors. The entire sickness is treated by eradicating H. pylori with antibiotics and proton pump inhibitors. However, the rise in antibiotic resistance and a lack of effective vaccinations make it tough to combat the infection. This chapter aims to shed light on host-pathogen interactions by analysing the bacterium's persistence and pathogenesis in the context of human health and precision medicine. 

Breast cancer (BC) is the most common among females. The current status of BC worldwide shows that more than 1 million women are affected and ~400 000 die every year. Partial success has been achieved by mammography coupled with adjuvant treatment. However, its incidence and mortality both are increasing. Several subcategories of BC have been reported; of which, one is triple-negative breast cancer (TNBC). This is defined by a lack of expression of oestrogen and progesterone receptors and human epidermal growth factor receptor 2 (HER-2). Several approaches have been used for speedy and accurate diagnosis and precise treatment of BC. In this context, precision medicine approach is of great relevance in ameliorating the suffering of the patient’s from the menace of BC. The present chapter aims to provide background information, different types of BC and its sub-types and molecular mechanisms for therapeutic intervention required for precision medicine.

Depression is a pervasive, arduous psychological condition with profound neurological ramifications. The parameters for leveraging depression involve the diagnosis and evaluation of depression, the endorsement to implement substantiated therapies and rigorous follow-up of the patients. Many individuals suffering from depression undertake a recurring or persistent therapy that correlates to a decline in cognitive processing. The underpinnings of exact aetiology and pathogenesis of melancholy are probably the outcome of a variety of mechanisms. These include physiological, behavioural, and socio-economic variables, all playing their roles. Multiple refinements to the treatments encompassing therapies, medications and medical interventions are employed, in relation to effective approaches reassuring the brighter side. In this chapter, we discuss more integrative and multifaceted aspects of psychological health, minimizing the segmented understanding to achieve a consensus on multiple possibilities for effective interventions.

Cancer is often described as a complex and diverse collection of cells, encompassing many distinct subtypes. To address the challenges presented by this heterogeneity, artificial intelligence (AI) has emerged as a pivotal technology for advanced cancer research and clinical management. AI leverages computer systems to perform tasks that traditionally rely on human cognitive abilities. One integral component of AI is Deep Learning (DL), which empowers algorithms to autonomously acquire knowledge from vast datasets, enabling them to make accurate predictions. The application of AI in cancer research has witnessed continuous growth, particularly in the realm of disease prognosis. This advancement has empowered pathologists to precisely diagnose various cancer types, and classify them into different grades and subtypes while considering factors such as invasion patterns, genetic mutations, and metastasis. Such precise characterization of cancers facilitates the implementation of tailored treatment strategies, ultimately leading to more favorable clinical outcomes. Moreover, AI plays a pivotal role in the field of precision medicine, aiding in overcoming challenges like drug resistance and cancer relapse.

In comparison to traditional methods, AI offers superior predictive accuracy and enhances the overall clinical perspective. This chapter aims to showcase the evolving roles of AI in diagnosing and prognosticating various cancer types and their subtypes. The applications of AI in cancer prediction warrant further assessment and validation, supporting not only routine tasks for pathologists but also complex diagnostic scenarios. Within these pages, we will highlight various instances where AI, particularly DL, has effectively addressed challenges that were previously deemed insurmountable. Additionally, we will focus on the resources and datasets available to foster a deeper understanding of the intricacies of AI in cancer research. The continued expansion of advanced computational methodologies and AI is expected to facilitate the study of interactomes, significantly enriching our insights into oncology and advancing the concept of personalized medicine.

Individualized remedy for patients is a middle objective of today’s clinical approach and the need of our society. Many elements, starting from genes to proteins, all stay unknown for their unique roles in human physiology. The accurate prognosis, monitoring, and remedy of various problems require dependable biomarkers, for the development of correct healing interventions. Precision medicine within the treatment of Fibromyalgia Syndrome (FMS) has attracted a whole lot of attention, particularly with the gene discovery pushing toward more modern know-how of the biology of disorders. Genome-huge association research has proven that in fibromyalgia pathogenesis, genetic factors are accountable for as much as 50% of the sickness susceptibility. Candidate genes determined to be associated with fibromyalgia are SLC64A4, TRPV2, MYT1L, and NRXN3. Fibromyalgia is an extensive musculoskeletal pain disorder followed by fatigue, sleep, memory, and mood troubles.

 Fibromyalgia syndrome (FMS) exacerbates painful sensations by altering the way the brain and spinal cord process both painful and non-painful signals. While some targeted treatments have shown promise in improving the condition of FMS patients in the short term, there is an opportunity to delve deeper into the mechanisms at play. With the aid of animal models, we can further explore the intricate interplay between the brain and the spinal cord, identifying specific genes, loci, and potential failures within the spinal cord that contribute to FMS.

Additionally, FMS has been linked to biogenic amine depletion and mitochondrial dysfunction. These factors represent crucial avenues for investigation. This chapter aims to spotlight the significant advancements in technology that facilitate personalized or precision medicine approaches for FMS. Since FMS is closely tied to the functioning of the brain and spinal cord, research using animal models offers a promising avenue, as conducting experiments on patients presents logistical challenges. 

There is a time code to the genome instructing temporal regulation of cellular activities. The time code is expressed in the form of circadian clocks composed of many transcription, co-activator, and co-repressor factors. The transcriptiontranslation feedback loops generated collectively by these factors regulate daily ~24- hour rhythms in physiology, metabolism, and behavior across divergent phyla. Genome-wide studies reflect that chronic disruption of circadian rhythms provides a plinth for the occurrence and progression of multiple diseases across our lifespan. Increasing epidemiological and experimental evidence are confirming that circadian clocks are compromised in cancer. Altered expression of circadian clock components is likely to be associated with the onset and progression of cancer. The concept of targeting circadian clocks at the molecular level is rapidly evolving and opening a new therapeutic window in cancer. Here we discuss the approaches and recent advancements that have been made for the identification and development of clockmodulating small molecules bearing drug-like properties for the therapeutics and therapeutic management of cancer. It is envisaged that this chapter will augment the concepts of precision medicine in general and circadian-related system anomalies.

Multiple Sclerosis (MS) is an autoimmune inflammatory disease and this affects roughly 2.8 million people worldwide. This is a highly heterogeneous disease in terms of course, clinical symptoms and response treatment. The exact pathogenesis and aetiology of this disease remain unknown. The lack of successful treatment can be explained by the heterogeneous nature of MS with patients exhibiting widely disparate clinical features and progression patterns resulting in phenotypic heterogeneity. Therefore, there is a need for the development of biomarkers for MS. The “Omics” approaches have been exploited for the development of biomarkers although the system biology was taken into consideration. With the introduction of Omics approaches, personalized medicine has gained potential revealing hitherto unseen elements of illness causation, initiation and progression. This chapter will focus on the potential role of genomics, transcriptomics, proteomics and metabolomics in MS for the possible identification of biomarkers facilitating and augmenting the concept of precision medicine.

A major clinical challenge in treating cancer patients is the metastasis of cells to distant organs forming secondary tumors. Many cancers are prone to metastasis due to epithelial-mesenchymal transition (EMT), which confers motility and invasive properties to the tumor. EMT also contributes to chemotherapy resistance and facilitates metastasis by generating cancer stem cells (CSCs). Therefore, the EMT program has therapeutic potential for personalized cancer treatment. In more severe situations, this might destroy metastatic cancer cells that are already present or stop tumour progression in high-risk patients who are at risk of developing metastatic tumours. The options for developing EMT-based personalised cancer therapeutics are covered in this chapter, along with a summary of the evidence supporting some of the suggested EMT targets and a discussion on the possible benefits and drawbacks of each strategy. 

Precision medicine is a systematic therapeutic approach that tailors the overall treatment process as per an individual's unique characteristics; taking into account the genomic makeup and lifestyle. This approach has shown promising results in treating certain types of cancers, including that of highly heterogeneous oral cancer. Oral cancer is a type of head and neck cancer mainly caused by poor oral hygiene, alcohol, and tobacco abuse, and promotes HPV infection. The conventional approaches for the treatment of oral cancer often rely on surgery, chemotherapy, and/or radiotherapy. Now, precision medicine, with the advent of newer diagnostic techniques, enables healthcare professionals to diagnose the disease early and treat the patient with appropriate medicines and optimized doses. This ensures overall safety while minimizing undesirable exposure to not-so-effective drug regimes. After a brief introduction to precision medicine, this chapter details genetic mutations as targets for precision medicine and the advantages of this approach in oral cancer treatment. It is envisaged that this approach offers improved efficacy, safety, reduced side-effects, and prepares the body’s immune response against oral cancer. Targeting specific proteins, such as EGFR and HER2 to suppress tumor growth or make cancer cells more susceptible to the immune system’s combat mechanism is also discussed followed by an overview of various drugs that are being used to treat patients who are positive for HER2 and EGFR. Various challenges and limitations of precision medicine and future prospects for research in this area are highlighted.

India has a rich tradition of the use of herbal medicine since the time immemorial. The treatment using plant-based medicaments became possible owing to the rich medicinal plant biodiversity. Several spices used on a regular basis in food preparation offer protection from a variety of ailments. Further, food consumption in different parts of the country has evolved based on culture, tradition, weather, and availability of resource materials. In a rural set-up, generally, the food is cruder but natural and thus healthier. Food harnessing and garnishing have become a standard practice to enhance the taste and look. Some of the herbs are used directly as food whereas others as food additives. Simultaneously, a large number of phytoconstituents have been characterized for their medicinal properties. In this chapter, we report on Phytoconstituents used for herbal formulation and discuss their therapeutic potential in human diseases. It is envisaged that such information would be of great use for ameliorating diseases ensuring better health complementing the concept of personalized medicine.

Spices and herbs have been an integral part of Indian cuisine since ancient times. They are not only cherished for improving the flavor and taste of Indian food but also confer their health benefits. Instant herbal remedies prepared from spices and herbs found in the kitchens of Indian homes have been used to treat many ailments and infections in a natural way. Most of the spices and herbs have high nutritional and antioxidant properties responsible for their medicinal effects. This is because of the presence of phytochemicals in the plants. The emphasis of the current article is to provide an overview of the therapeutic potentials elucidating the phytochemical compositions of the key Indian plants. Many such plant products are used mainly as spices in Indian cuisine. In this review, we aim to highlight the chemical constituents and active factors of some of these spices and their pharmacological potential. We believe that in-depth molecular characterization of these spices for all their chemical constituents and their impact on cells, organs, and different organelles will provide a wealth of information useful for human health. These findings may further be chiseled in the form of personalized medicine. 

Hypoxia is a condition wherein an organism, a cell or a region of an organ does not receive adequate levels of oxygen to carry out normal life processes. The ability to sense oxygen levels and respond appropriately is termed “oxygen sensing” which might be used in certain cases to describe the biological effects of hypoxia. Hypoxia is an important facet involved in multiple diseases. Ranging from highaltitude pulmonary edema to cancer, oxygen-sensing molecular networks are crucial for survival and have a notable impact on human health systems. The type, duration, and intensity of hypoxic episodes have been found to have a multitude of effects ranging from beneficial to harmful in diverse conditions like obesity, type 2 diabetes and obstructive sleep apnea. A very important niche of hypoxia is the study of environmental stressors also called high-altitude hypoxia. High-altitude hypoxia holds multiple molecular similarities with diabetes, cancer, obesity, and other diseases like COPD. In addition, unregulated exposure to hypobaric hypoxia is known to directly cause high-altitude illnesses like HAPE/HACE. An interesting facet of high-altitude hypoxia is the ability of the molecular and physiological systems to acclimatize to the high altitude. This acclimatization is known to prevent the occurrence of high-altitude illnesses. This review highlights the previous studies to build a framework that elucidates the occurrence of hypobaric hypoxia, its socio-economic impact, molecular underpinnings, and correlation with inflammation, cancer, diabetes, obesity and possible therapeutic approaches to these diseases.

The exigency for the most accurate form of diagnosis and treatment to challenge the failure of evidence-based medicine unlocked new avenues for tailored treatment. Precision Medicine encompasses the novel techniques and methods of therapy considering the genetic complexity, variations, and mutations in the human population. Recent advances in nanotechnology have paved a new path in therapeutics. The fusion of Precision Medicine with cutting-edge nanotechnology has offered unique headways into the healthcare management system. Novel approaches of nanoparticle synthesis and drug delivery techniques to cure heterogeneous populations with varied genetic alterations is now possible through precision medicine. This chapter highlights the promising role of nanomaterials in precision oncology where conventional therapy dwindles. Moreover, we discuss the emerging scope of precision medicine in dentistry to cure genetic diseases. Cystic fibrosis, which was once a nightmare, is now completely curable with the boon of Precision Nanomedicine. Precision medicine has revolutionized the medical world with a ray of hope to achieve the pinnacle of human health.

Nanotechnology has the potential to revolutionize the field of drug delivery by enabling targeted and controlled release of drugs within the body. This article provides an overview of the current state of the art in nanotechnology-based drug delivery systems and their potential applications. It discusses the various types of nanoparticles that are currently being used or developed for drug delivery, including liposomes, dendrimers, and polymeric nanoparticles, and highlights their advantages and disadvantages. It also covers some of the key challenges and risks associated with the use of nanotechnology in drug delivery, such as toxicity and regulatory issues. Finally, the article explores the future prospects of nanotechnology in drug delivery and highlights some of the areas where further research and development are needed. Overall, the article demonstrates that nanotechnology-based drug delivery systems hold great promise for improving the efficacy and safety of drug treatments and that ongoing research in this field has the potential to transform the way we approach drug delivery in the future. Finally, it's envisaged that this technology will facilitate the augmentation of precision medicine for better human health care across the spectrum of diseases.

Personalized medicine is a targeted therapy that aims to provide people suffering from complex illnesses with tailored-made healthcare. Taking this into consideration, foods with diverse bioactive compounds have recently gained widespread scientific interest as alternatives to modern drugs for developing therapeutic agents against human diseases. Tannins are an important group of polyphenol compounds in foods that have both beneficial and anti-nutritional effects. As an anti-nutrient, they can reduce element bioavailability, and protein absorption, and inhibit enzymatic actions during metabolism. If tannin-rich foods are consumed in sufficient quantities and at the appropriate time, they may act similarly to natural drugs that ameliorate a range of metabolic disorders. Thus, the types of tannin-rich foods and the timing of consumption before or after meals should be considered for maximum physiological importance in maintaining human health. In this chapter, we compiled the different types of tannins and their food sources, as well as their beneficial and antinutrient effects on human health.