The discovery of genetic and epigenetic mechanisms underlying the onset and progression of numerous diseases, including cancer, has helped redefine clinical research, diagnostic and treatment paradigms. Oncology research and diagnostics have undergone radical changes because of the development of next-generation sequencing (NGS). NGS has improved rationally designed personalized cancer medicine by identifying novel cancer mutations, detecting circulating tumor DNA (ctDNA), and discovering causative mutations for hereditary cancer syndrome. With NGS, it is now possible to sequence the whole genome, whole exome, whole transcriptome, or just targeted genes to provide detailed genomic landscape descriptions for many cancers.

Alzheimer’s disease (AD) has long been one of the great challenges in medicine and imposes a constant burden on our aging population. Recent statistics show that approximately 50 million people worldwide suffer from AD or some other form of dementia. The World Health Organization has estimated that the total number of people with dementia worldwide will reach 82 million by 2030 and 152 million by 2050. Of the top 10 leading causes of death based on United States cancer statistics, cardiovascular disease ranks first, tumors rank second and AD ranks sixth.

Modern medicine now derives its insights through the deeper understanding of the cellular and molecular mechanisms, which involves modification of the cellular behavior through targeted molecular approaches. Experimental biologists and clinicians now employ various molecular techniques to assess the intrinsic behavior of cells in a variety of ways, such as through analyses of genomic DNA sequences, chromatin structure, messenger RNA (mRNA) sequences, non-protein-coding RNA, protein expression, protein modifications and metabolites.

Emerging single-cell technologies have provided us with a powerful tool to dissect the clonal complexity of tumor cells, deconvolute the role of immune cell types in disease mechanisms, and monitor risk and treatment strategies to guide early patient diagnosis, since being highlighted as the ‘method of the year’ in 2013. As our capabilities in single cell sequencing continue to increase, latest advances in multi-omics of single cells are providing newer ways of integrating single cell transcriptomics with the multiple molecular measurements in a single experiment.

Recent advances in next-generation sequencing technologies have heralded a paradigm shift in the field of precision oncology and personalized/genomic medicine, with a large number of somatic- and germline mutation-profiling programs worldwide. These programs have paved the way for personalized medicine in contrast to a unified approach that clearly fails in select individuals, conferring benefits to only a subset of patients. While these genomic analyses become increasingly accessible and almost commonplace to all research scientists, clinicians and molecular geneticists, they are faced with the challenging task of interpreting and translating the results from these analyses.

According to the American Cancer Society, an estimated 1.9 million new cancers will be diagnosed in 2022 [1]. Some of the major cancer types affecting the population are prostate, lung & bronchus, colon & rectum, urinary bladder, melanoma of the skin, kidney & renal pelvis, non-Hodgkin lymphoma, oral cavity & pharynx, leukemia, pancreas, breast, colon & rectum, uterine corpus, thyroid. Lung and Bronchus (21%) in both men and women, prostate in men (11%) and breast cancer (31%) in women are the majority cancer types causing death in the population [1]. Even though our understanding of cancer has broadened over the years it is still a major challenge to tackle across the globe. Widely accepted therapy forms for cancer includes biomarker identification and testing for treatment, chemotherapy, hormone therapy, immunotherapy, photodynamic therapy, radiation therapy, stem cell transplant, surgery, and targeted therapy. Immunotherapy (Table 1) is emerging as a forerunner among all the types of cancer therapies for the simple reason as it considers the various dynamics of immune function in an individual. Genomics has played a key role in enabling the identification of therapeutically actionable targets and in guiding the use of immunotherapy.

Next-generation sequencing techniques has seen an unimaginable growth in the past two decades. The scope has really broadened, and it is now possible to look at a genome both at macro and micro levels. Single-Cell RNA sequencing (scRNA-seq) is one such technique which deals with understanding the transcriptome at a cellular level. Single cell RNA sequencing can provide unparalleled insights into the various cellular events. scRNA-seq has an advantage over the bulk RNA-seq studies since it provides higher resolution in terms of cell subsets diversity and individual cell heterogeneity in the organisms.

The human immune response can be divided into two components: Innate and Adaptive. Innate immune response involves classic primitive reaction through cellular and humoral mechanisms. It’s a first line of defence and can comprise a host of cells such as neutrophils, macrophages, and mast cells which kills the invading pathogens while the humoral response can be through enzymes such as Lysozyme that can kill harmful microorganisms.

Single-cell genomic analysis has emerged as a powerful method for studying complex disease. By providing comprehensive analyses of individual cells, single-cell sequencing allows researchers to examine cellular heterogeneity, which especially useful in oncology, neurology, immunology, and developmental research.

February 28th is Rare Disease Day. It is a day where the realities of Rare Diseases need to be highlighted for all health industry stakeholders; to celebrate the progress that has been made as well as to inspire us for the challenges that lay ahead.