Genetic testing in diagnosis is crucial for clinical practices. The diagnostic outcome needs to consider the familial pathological background collected before and after the genetic assessment of an individual

Diagnosis is the most important step in any clinical process as it plays a vital role in therapeutic decision making. It is majorly categorized into hematologic, chemical, microbiological, immunological, and molecular diagnostics.

Metabolomics is a translational science deals with the molecular assessment of metabolites in the biological samples. Metabolomics help to test the disease states by determining the metabolite biomarkers that may have a role in the pathophysiological mechanism

Understanding structure-function relationship of protein molecules is central to biological research. Experimental methods of protein structure determination are often expensive and therefore alternative approaches are in high demand. Computational methods are highly useful in modelling protein structures, however, there is a trade-o between accuracy and computational cost. Even with low computational cost, there exists plenty of methods to model protein structures. Such methods are highly useful in drug discovery research.

Hypertension is a primary risk factor for stroke, heart attack, heart failure, and aneurysm. High Blood Pressure is responsible for 7.6 million deaths per annum worldwide. Renin angiotensin system is responsible for controlling blood pressure, salt balance and fluid balance in mammals. Renin cleaves the angiotensinogen into angiotensin1, which is inactive in nature. Angiotensin converting enzyme (ACE) converts the inactive Ang1 to active Ang2 which leads to the vasoconstriction and the result is increased BP. ACE also inactivates the bradykinin which is responsible for vasodilation. The main way to control the hypertension is to inhibit the ACE. Fosinopril is one of the ACE inhibitors which have more binding affinity compared to the others. In this article, we report computational design methodology to improve the binding affinity of fosinopril, so as to improve specificity and to reduce side-effects. All the new derivatives of fosinopril showed better free energy of binding relative to fosinopril.

The cystic fibrosis transmembrane conductance regulator (CFTR) protein is an ATP binding cassette (ABC) transporter found in the cell membrane. CFTR functions as the regulator of chloride ion conductance. The ∆F508 mutation reduces chloride transportation leading to the accumulation of thick mucus outside the epithelial membrane in the lungs. The Lumacaftor is a commercially available pharmaceutical drug that functions as protein folding chaperone and helps CFTR trafficking to the surface of cell. In this study, an effort as taken to optimize the structure of Lumacaftor by attaching various functional groups (methyl –CH3, amine –NH2 and, hydroxyl -OH) based on the amino acids found at the active site. From the docking calculations it was found that among these functional groups, the OH group at the 7-position of the Lumacaftor showed better binding energy -10.0 kcal/mol compared to Lumacaftor with CFTR protein with binding energy of -8.2 kcal/mol. This modified derivative might reduce the drug dosage due to its better binding affinity and might work as a better choice of drug to treat cystic fibrosis (CF).

Recent advances in genetic technology have brought in a complete change in our perceptions of genetic tests and their role and scope in clinical diagnosis. It is well known that genetic testing helps in determining the familial cause of diseases that is not limited to the present generation but also digs at the past and predicts the future. With the increasing prevalence of genetic disorders, the rapidity with which results can be obtained with the current genetic technology will be a boon to mankind. Further, the advanced techniques with rapid analytical protocols have expanded the scope for clinical discussions to decide on the treatment options for many untreatable genetic disorders. Recent diagnosis involves NGS, GWAS, aCGH, MLPA, and several PCR techniques. This review highlights the recent trends in various genetic diagnostic techniques and their scope.

Neurodegeneration is a multifactorial disease rising rapidly in prevalence world-wide. The diagnosis and management of neurodegenerative diseases have been substantially enhanced because of the “omics” research. Technological advancement in genomics, epigenomics, proteomics, metabolomics and pharmacogenomics helps to develop multi-omics tools to identify biomarkers and therapeutic targets. Extensive studies on the biomolecules including nucleic acids, protein and metabolites have revealed remarkable changes in genomic, transcriptomic, proteomic and metabolomic profiles in patients with neurodegenerative diseases. Data gained from multi-omics technology provide a complete spectrum of molecular information that provides several novel diagnostic, prognostic and treatment targets for neurodegenerative diseases. This review discusses the significant contributions of multi-omics approaches towards translational research in neurodegenerative diseases.

Endometriosis is a complex gynaecological disease mostly affecting women of reproductive age (25 to 35 years) in 10% of the world population. Various theories have described the pathogenesis of endometriosis. Amongst them, the genetic/epigenetic theory explains nearly all observations of endometriosis. So-far several genetic loci were analyzed for their potential role in the pathogenesis of endometriosis, and some were proven to be pathologically significant. Other than the genes, the epigenetic modifications such as mRNA levels, miRNA expression, methylation and acetylation profiles were also being analyzed for their potent role in endometriosis. This review is aimed at discussing the recent developments in the genetic and epigenetic aspects of endometriosis as a disease condition.

Schizophrenia is a highly heritable and familial disorder. With current testing methods, the risk factors of schizophrenia with even the slightest association have been identified. More research is being conducted to strongly and evidentially associate these genes with schizophrenia. However, genetics is not the only factor increasing the risk of schizophrenia. The environment also plays an important role. The combination of environmental risk factors and genetic predisposition factors increases the chance of schizophrenia more than the environment or genetic factors separately. This review article provides an insight into the risk factors of schizophrenia mainly focusing on the genetic factors.