Pharmacogenetics has the capability to assist in directing clinical decisions by individualizing the administration of medications and doses to patients who are most sure to recover from such interventions. Some people believe that because pharmacogenetic testing has such a simple therapeutic purpose, there is no need to be concerned about ethical implications. However, various potential hazards and clinical concerns arise when considering these novel technologies for clinical treatment. Medication safety has increased, and empiricism in drug selection has decreased due to incorporating pharmacogenetic information into healthcare to benefit patients and physicians. However, obstacles remain to the employment of pharmacogenetic testing. The incorporation of pharmacogenetic testing faces several challenges for its widespread use. This chapter discusses pharmacogenomics’ dynamics, tests, approaches, obstacles, and implementations. Patients and medical professionals stand to gain from the use of pharmacogenetic information in healthcare in the form of increased drug safety and a reduction in the use of empiricism in the selection of pharmaceuticals. These benefits accrue from the use of pharmacogenetic information.

Purpose: Cataract is a major cause of blindness worldwide with a greater prevalence in developing countries like India. Owing to speculations about the relationship of various biochemical markers and cataract formation this case-control study was designed with the aim to know the impact of serum blood sugar, serum electrolytes and serum calcium on the etiopathogenesis of cataract in Kashmiri population. Methods: A total of 300 cases diagnosed with cataract and 360 healthy controls were taken for the study. Serum of all the cases and controls was analyzed for blood sugar and calcium using spectrometric techniques. Sodium and potassium were analyzed using Ion-Selective Electrode technology. All the investigations were done on ABBOTT c4000 fully automatic clinical chemistry analyzer. Results: Most of the patients in our study were ≥50 years of age having posterior subcapsular cataract. The mean levels of serum fasting blood sugar (mg/dL), serum sodium (mmol/L), serum potassium (mmol/L) and serum calcium (mg/dL) were 99.4 ± 7.7; 140.4 ± 2.5; 4.2 ± 0.5; and 8.9 ± 0.5, respectively, in cases compared to 107.7 ± 12.3; 142.9 ± 5.0; 3.8 ± 0.5; and 8.3 ± 1.7, respectively, in healthy controls. A significantly higher number of cataract cases had elevated serum glucose and sodium levels, low serum potassium and calcium levels compared to healthy controls. Conclusions: Hyperglycemia, hypernatremia, hypokalemia and hypocalcemia can independently increase the patients’ risk to cataracts. Corrections in these biochemical parameters may reduce cataract incidence.

Nigella sativa is an annual herb identified as having curative and remedial properties for treating the certain health conditions namely, asthma, nasal congestion, bronchitis, and metabolic disorders due to its immune boosting and antioxidant benefits. Studies have shown that the chemical constituents of N. sativa, especially thymoquinone, have renoprotective effects against nephrotoxic agents induced kidney complications. Many drugs that are used in the treatment of cancer are known to induce nephrotoxicity. Many studies have been analyzed and reported in which the various chemotherapeutic agents such as doxorubicin, cisplatin, gentamicin, and methotrexate are used to induce nephrotoxicity. Thymoquinone has certain protective properties such as antioxidant activity, antiinflammatory and antiapoptotic properties that renders it as a potential therapeutic target for the treatment of induced renal diseases. In this chapter, the protective roles of N. sativa against the induced renal disorders such as nephrotoxicity, renal ischemia, and diabetic nephropathy will be discussed. Various experimental studies carried out in this regard will be analyzed and discussed.

The immune system and genetics have been found to be associated for a long time. The relationship between the two has given rise to a new field of medical genetics called immunogenetics, explaining the connection between genetic makeup and the immune system. It started with the study of factors that actually induce the immune response but nowadays its scope has widened to understand the genetic control of an individual's ability to respond to foreign substance (antigen). There are a number of autoimmune diseases where there is altered genetic makeup. Understanding the genetic variations in these diseases can help us to unravel the various immunological pathways which lead to these autoimmune diseases.

Due to drastic increase in industrial activities, heavy metal pollution has become a source of grave concern. Heavy metals not only have hostile effects on living organisms, but they also disturb the delicate balance of the ecosystem. Aquatic ecosystems are particularly affected by heavy metal pollution since most of the industrial wastes are ultimately drained into the water bodies. Fish being at the top of the aquatic food chain accumulates all these toxic heavy metals. In this book chapter, we have tried to go into the mechanistic depths of neurotoxicity caused by heavy metals in fishes. Trace amounts of some heavy metals like iron, copper, zinc, and cobalt are essential to maintain the physiological and biochemical functions in living organisms; however, beyond a certain threshold level, they become toxic. Other heavy metals like lead (Pb), mercury (Hg), and cadmium (Cd) have no known essential role in living organisms. These essential and non-essential heavy metals together constitute an important group of neurotoxicants. Toxic effects of heavy metals come into play when detoxification, metabolic, storage, and excretory mechanisms in fish are not able to counter uptake. Most of the heavy metals disturb the delicate balance between reactive oxygen species (ROS) and antioxidant defense mechanisms in cells, resulting in an increase in the concentration of ROS. This creates oxidative stress in the cells leading to apoptosis (Mieiro et al., 2009).

High Myopia (HM) is a common complex-trait eye disorder. There is essential evidence that genetic factors play a significant role in the development of nonsyndromic high myopia. Identification of susceptibility genes of high myopia will shed light on the pathophysiological mechanism underlying their genesis. This was a case control study examining the prospect of association of DLGAP1, EMILIN2 & MYOM1 genes on MYP2 locus in purely ethnic (Kashmiri) population representing a homogeneous cohort. Genomic DNA was extracted using phenol chloroform and salting out method. Extracted DNA was genotyped for polymorphic variations in MYOM1, EMILIN2 and DLGAP1 genes involving Sanger di-deoxy method. Allele frequencies were tested for Hardy-Weinberg disequilibrium in 224 cases and compared with 220 emmetropic controls. In DLGAP1, documented single nucleotide polymorphism (SNP); Pro517Pro was observed. A previously reported Asn451Asn SNP was observed in EMILIN2. MYOM1 showed five polymorphic variations; two in coding region (Gly333Gly & Gly341Ala) and three intronic (c.1022+23, G>A; c.3418+44 G>T & c.3418+65; C>G). All of the elucidated SNPs were having statistical significant role in increasing or decreasing the risk of disease. Although not statistically significant, a novel Glu507Lys SNP was observed in DLGAP1 (P>0.05). In silico predictions showed MYOM1 Gly341Ala to be benign & tolerated substitution while as DLGAP1 Glu507Lys to be possibly damaging substitution. The studied SNPs followed Over-Dominant, Recessive and Co-Dominant mode of inheritance with specific haplotypes associated with the disease. Our study reveals the involvement of MYP2 locus candidate gene polymorphism in the pathogenesis of HM.

This study aims to look at novel variations in TGIF1 gene and explores their potential association with high myopia in an ethnic population from Kashmir (India). Genomic DNA was genotyped for polymorphic variations, and allele frequencies were tested for the Hardy–Weinberg disequilibrium in 240 ethnic Kashmiri cases with high myopia with a spherical equivalent of >−6 diopters (D) and compared with emmetropic controls with spherical equivalent within −0.5D in one or both eyes represented by a sample size of 228. In this study, we found a novel sequence variation G26A (GAT to AAT) in 5′ half of TGIF1 gene (p. aspartic acid >asparagine) at a frequency of 62% (148/240, P ≤ 0.0001). Variation appears to associate with high myopia significantly (P ≤ 0.001) as it happens to be present only in high myopia affected individuals. Further, it shows statistical significance for its association with gender and the degree of myopia (P ≤ 0.05). In addition, in silico predictions show that variation likely has an impact on the structure and functional properties of the protein. The assessment of the I-TASSER protein structure showed higher energy for a wild-type protein (−5820.186 kJ/mol) as compared to mutant protein (−6595.593 kJ/mol).