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Population-scale genetic studies can identify drug targets and allow disease risk to be predicted with resulting benefit for management of individual health risks and system-wide allocation of health care delivery resources. Although population-scale projects are underway in many parts of the world, genetic variation between population groups means that additional projects are warranted. South Asia has a population whose genetics is the least characterized of any of the world’s major populations. Here we describe GenomeAsia studies that characterize population structure in South Asia and that create tools for economical and accurate genotyping at population-scale. Prior work on population structure characterized isolated population groups, the relevance of which to large-scale studies of disease genetics is unclear. For our studies we used whole genome sequence information from 4,807 individuals recruited in the health care delivery systems of Pakistan, India and Bangladesh to ensure relevance to population-scale studies of disease genetics. We combined this with WGS data from 927 individuals from isolated South Asian population groups, and developed a custom SNP array (called SARGAM) that is optimized for future human genetic studies in South Asia. We find evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of homozygosity that approach 100 times that seen in outbred populations. We describe founder effects that increase the power to associate functional variants with disease processes and that make South Asia a uniquely powerful place for population-scale genetic studies.

Objectives: Calocera viscosa, commonly called as the yellow stagshorn, is a jelly fungus, belongs to the family of Dacrymycetales, unknown for its medicinal properties and biological activities. Method: The sporocarps of C. viscosa (Pers.) Fr. were collected from Agumbe, Karnataka. Mycochemical and Gas chromatography–mass spectroscopy (GC–MS) analysis done by standard procedures and antibacterial activity was done by agar well diffusion method. Results: Physicochemical was analyzed and results revealed the highest percentage of alcohol-soluble extractives were present followed by ash content. Alcohol-soluble extractives were 20.76%, total moisture content (10.9%), and foreign matter (0.5%). Extraction was done by Soxhlet apparatus using petroleum ether, chloroform, and ethanol and subjected to qualitative mycochemicals analysis both petroleum ether and chloroform extract confirms less mycochemicals, whereas ethanolic extract revealed the presence of alkaloids, tannins, flavonoids, sterols, glycosides, terpenoids, and phenols. GC–MS analysis of ethanoic extract showed many known bioactive compounds in that, 19 compounds were unknown and 21 compounds were known for its medicinal properties, most of them were food additives and flavoring agents. Antibacterial potentials were studied against pathogenic bacteria revealed that ethanolic extract showed appreciable zone of inhibition against pathogenic bacteria, in that maximum zone of inhibition showed against Klebsiella pneumonia followed by Escherichia coli and Staphylococcus aureus. Conclusion: C. viscosa (Pers.) Fr. sporocarp can be explored for potential antibacterial with rich full of useful mycochemicals.

βA3/A1-crystallin, a lens protein that is also expressed in astrocytes, is produced as βA3 and βA1-crystallin isoforms by leaky ribosomal scanning. In a previous human proteome high-throughput array, we found that βA3/A1-crystallin interacts with protein tyrosine phosphatase 1B (PTP1B), a key regulator of glucose metabolism. This prompted us to explore possible roles of βA3/A1-crystallin in metabolism of retinal astrocytes. We found that βA1-crystallin acts as an uncompetitive inhibitor of PTP1B, but βA3-crystallin does not. Loss of βA1-crystallin in astrocytes triggers metabolic abnormalities and inflammation. In CRISPR/cas9 gene-edited βA1-knockdown (KD) mice, but not in βA3-knockout (KO) mice, the streptozotocin (STZ)-induced diabetic retinopathy (DR)-like phenotype is exacerbated. Here, we have identified βA1-crystallin as a regulator of PTP1B; loss of this regulation may be a new mechanism by which astrocytes contribute to DR. Interestingly, proliferative diabetic retinopathy (PDR) patients showed reduced βA1-crystallin and higher levels of PTP1B in the vitreous humor., Ghosh et al. show that a lens protein βA1-crystallin inhibits PTP1B activity, regulating the metabolism of retinal astrocytes. They find that knockdown of βA1-crystallin exacerbates the streptozotocin-induced diabetic retinopathy-like phenotype in mice, suggesting the possibility that the interaction between βA1-PTP1B may be targeted for diabetic retinopathy.

Traumatic rhegmatogenous retinal detachment after blunt ocular trauma is a known entity. A tractional macular detachment occurring posttrauma without a retinal break is a unique presentation. A 25-year-old gentleman after blunt ocular trauma with a ball presented a week later with a vision of 20/800, large subretinal bleed and resolving vitreous hemorrhage in the right eye. Three weeks later, an extensive glial proliferation at the posterior pole and macular tractional retinal detachment was noted with the worsening of visual acuity. A vitrectomy, membrane peeling, and silicone oil tamponade with a subsequent silicone oil removal at 6 months stabilized the macula, and vision improved to 20/120. A tractional macular detachment post blunt trauma is rare albeit an interesting occurrence, which can be effectively managed with vitrectomy and allied procedures.