New avenues for therapy in mitochondrial optic neuropathies.

Unlabelled: Mitochondrial optic neuropathies are a group of optic nerve atrophies exemplified by the two commonest conditions in this group, autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy (LHON). Their clinical features comprise reduced visual acuity, colour vision deficits, centro-caecal scotomas and optic disc pallor with thinning of the retinal nerve fibre layer. The primary aetiology is genetic, with underlying nuclear or mitochondrial gene mutations.

COVID-19: molecular pathophysiology, genetic evolution and prospective therapeutics-a review.

The Covid-19 pandemic is highly contagious and has spread rapidly across the globe. To date there have been no specific treatment options available for this life-threatening disease. During this medical emergency, target-based drug repositioning/repurposing with a continuous monitoring and recording of results is an effective method for the treatment and drug discovery.

Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India.

Congenital cataracts are the prime cause for irreversible blindness in children. The global incidence of congenital cataract is 2.2-13.

A novel E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.

Purpose: To identify the mutation causing an autosomal dominant congenital nuclear cataract in a south Indian family by whole exome sequencing and to characterize further phenotypically the same in a zebra fish model.

Methods: A six-generation family (DKEC1) with several affected members registered at the Regional Institute of Ophthalmology (RIO), Chennai was documented to have congenital nuclear cataract. Detailed clinical history and blood samples were collected from all available family members.

Identification of nonclinical interventions for spontaneous recovery of depression using mathematical modeling.

Background: In order to make a risk or vulnerability assessment of major depressive disorder (MDD) in adolescents and suggest nonclinical interventions for spontaneous recovery for low-vulnerable adolescents a novel network mathematical model has been proposed.

Methods: In the existing network theory, the theoretical model consists of a symptom network surrounded by the triggering factors as external field which are the cause for adolescents being diagnosed with MDD. But in our network model, the triggering external field is replaced by nonclinical interventions, easily implementable in schools and colleges with teachers as facilitators.