Research Services Blog

Single-cell genomics techniques are revolutionizing our ability to characterize complex tissues. Although bulk RNA sequencing experiments can be insightful, they often mask important biological activity of rare cell types and fail to show the variability in gene expression between individual cells. The rapid development of low-input RNA seq methods has led to an explosion of single-cell RNA-seq platforms, each with their own advantages and limitations. Droplet-based methods (10X Chromium, DropSeq) can be used to analyze thousands of cells in a single prep.

Technological advances in sequencing capabilities have rapidly accelerated our understanding of human health and disease. From the workhorse short-read Illumina sequencing data to the recent advent of third-generation sequencing instruments such as PacBio, Nanopore, that now enable single molecule sequencing, genomics and its applications has assumed a wider scope in recent times ranging from specialised studies such as transcriptomics, epigenomics, metagenomics to more specific application areas such as biomarker discovery

Gall bladder cancer (GBC) is an aggressive gastrointestinal malignancy with a poor prognosis. It is the 20th most common type of cancer worldwide and its incidence is particularly high in specific regions of the world including Bolivia, Chile, Ecuador, Peru, Korea, Japan and India and is currently rising in Western populations (https://bit.ly/3kSLDMw) (Figure 1). In the United States, it is a more common malignancy in Southwestern Native Americans and Mexican Americans.

In 2013, single-cell sequencing was selected as the method of the year to highlight its ability to sequence DNA and RNA in individual cells. The advantages of such high resolution sequencing are to unveil previously unknown cell population heterogeneity and to perform more accurate analysis. The high degree of heterogeneity in tumor tissue is widely considered to relate to the mechanisms of tumorigenesis and metastasis. Traditional sequencing methods can only detect cell populations then get the average of the signals in a group of cells.

Big data and big data analytics are the buzz words that we have been hearing for the past few years, which have relevance in all fields and specialties. In the field of medicine, the process of clinical documentation and analysis have been very meticulous and exhaustive in the past contributing to major discoveries in associating diseases with genes, understanding disease epidemiology and in generating and testing hypothesis. The advances in computational science and data processing have streamlined the management of medical big data creating opportunities to impact the health care system with accurate prognostication and disease management.

COVID-19 pandemic has infected over 23 million individuals and claimed over 800,000 lives globally as of August 2020. SARS-CoV-2, the organism causing COVID-19 belongs to the family of coronaviruses and shares 79% genome sequence identity with SARS-CoV. The spike antigen used by the virus to enter host cells became the prime target for immediate vaccine development efforts because of prior work on SARS-CoV that showed neutralizing antibodies against the spike antigen protected mice and chimps against new infection (1, 2).

Cancer immunologists scooped the 2018 medicine noble prize for pioneering treatments that unleash the body’s own immune system to attack cancer cells. It represents a completely new principle which unlike the previous strategies that target the cancer cells, rather targets the brakes — the checkpoints — of the host immune system.

Immunotherapy based on check point inhibitors has shown astounding clinical success with countess patients with varied tumor types showing a pronounced clinical response.

It’s widely believed that South Asians are born with a high risk for several non-communicable diseases (NCD) such as diabetes, cardiovascular diseases etc, which often points to unhealthy lifestyle and environmental factors. For example, higher prevalence of type 2 diabetes is often over-attributed to overweight/obesity in Indians. How many of us know that in India, there are higher incidence of type 2 diabetes reported even in people with lower BMI ? [1,2]

Compared to Europeans, South Asians, on an average have low muscle mass, which could be due to long-term adaptation to climate [2].

Genetic testing can prove to be a crucial element in clinical diagnosis as it offers critical insights that can help a clinician in managing, treating and even sometimes prevent an inherited condition. A specific diagnosis and treatment regimen can be determined once the clinician runs a specific array of genetic tests after knowing the detailed family history of the patient.

Reporting one or two variants specific to the phenotype of the patient from few lakh variants after performing an NGS assay involves steps that can strategically eliminate variants of least importance.

For the majority of people, the mere mention of snakes conjures involuntary shivers! These stealthy critters have a forked tongue, unblinking eyes and either have fangs that deliver venom to immobilize/kill prey or strong muscles to asphyxiate. Snakes have been around for millions of years, and have used this time to become incredibly effective predators and can be found on all continents except Antarctica. Beginning over a 100 million years ago, snakes diverged from lizards, lost their legs and evolved into smaller and faster hunters to catch quick-moving prey. Rather than expend a great deal of energy to forage for food, many snakes developed venom – a complex chemical cocktail of proteins and enzymes designed to kill or incapacitate the prey even before ingesting their meals.

Cancer vaccines are an upcoming therapeutic modality mobilizing body’s own immune system to eradicate advanced tumors and holds tremendous promise for cancer patients unresponsive to checkpoint inhibitors.

Theoretically, targeting cancer with cancer vaccines has a clear advantage over other targeted therapies in that every cancer patient can be treated with a unique set of cancer vaccine cocktail derived from a set of tumor-specific mutations present in the patient. Although conceptually attractive, the field of cancer vaccines has not delivered on the promise as results from several Phase I/II clinical trials have shown.