Search

Advent of new sequencing technologies and modern diagnostic procedures has opened the door for a deeper understanding of disorders about which little was known previously. Discovery of novel genes, new genetic variants in previously known genes and better techniques of functional validation has immensely contributed to unraveling the molecular basis of genetic disorders. Availability of knockout animal models like the zebrafish and gene editing tools like CRISPR-Cas9 has elucidated the function of many new genes and helped us to better understand the functional consequences of various gene defects. This has also led to better diagnosis and therapeutic interventions. In this context, a good body of research work has been done on X-linked recessive disorders with ocular findings. This review will focus on ocular and genetic findings of these rare disorders. To our knowledge, this is the first comprehensive review encompassing ocular and genomic spectrum of X-linked recessive disorders. [ABSTRACT FROM AUTHOR]

In most of the societies mental illness carries a substantial stigma or mark of shame. Such stigma may keep families from acknowledging that a family member is ill. Some families may hide or overprotect a member with mental illness-keeping the person from receiving potentially effective care-or they may reject the person from family. When magnified from individuals to a whole society, such attitudes lead to underfunding of mental health services and terribly inadequate care. The Conflict situation has adversely affected the mental health of people in Kashmir, resulting in the significant increase in the psychological disorders. In the present study an attempt has been made to know the attitude of people towards Mental illness in Kashmir. [ABSTRACT FROM AUTHOR]

The impact of Twenty-years-old conflict on Kashmiri society has proved deeper, wider and has engulfed the totality of social dynamics. In actuality, every sector and every section of the Kashmiri society suffer in totality at the individual as well as group level. Education was the major causality as a result of the conflict .The major cause leading to the decreasing working days were incidents of violence and crumbling of the entire system of governance. This paper aims to focus on the impact of the conflict situation on education of youth in Kashmir. The present study has been limited to youth enrolled in various degree colleges covering the faculties of general science, social science, Humanities, Business/commerce and computer science. The respondents were selected from the colleges of six districts of Kashmir province of Jammu and Kashmir. [ABSTRACT FROM AUTHOR]

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder characterized by the triad of early-onset cerebellar ataxia, peripheral sensorimotor neuropathy, and lower limb spasticity. Here, we present a 28-year-old male patient with symptoms of ARSACS and mild intellectual disability from a consanguineous family of tribal J&K, India. Whole exome sequencing unraveled a novel homozygous frameshift SACS mutation (Cys2869ValfsTer15) in the patient. In addition to the well-established ARSACS imaging features, MRI revealed T2 hyperintense rim around the thalami ("bithalamic stripes") demonstrating that this feature might serve as an additional supportive diagnostic imaging marker for ARSACS. Moreover, retinal nerve fiber layer thickening which has recently been proposed as a diagnostic biomarker for ARSACS was present on routine optic coherence tomography (OCT) also in this patient, indicating that it might indeed present a relatively universal diagnostic biomarker for ARSACS. In sum, our findings extend the geographical distribution of ARSACS to even very remote tribal regions in Asia (such as the Rajouri region of J&K, India) and extend the mutational and imaging spectrum of ARSACS. They provide further support that brain imaging and OCT markers might serve as diagnostic biomarkers for ARSACS in patients with novel SACS mutations, applicable even in remote regions of the world to identify and confirm ARSACS disease. [ABSTRACT FROM AUTHOR]

Hereditary hearing loss is characterized by a very high genetic heterogeneity. The OTOF (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder. In this study, whole exome sequencing was employed for detection of novel pathogenic variant that segregates with autosomal recessive nonsyndromic hearing loss in a tribal family from Rajouri, Jammu and Kashmir. Proband was a 9-year-old male born to first-cousin parents and presented with sensorineural hearing loss since birth. Family resides in an area with high consanguinity and lack of basic health care facilities including genetic counselling services. We report a novel OTOF pathogenic variant NM_194248.2:c.4249_4250insG (p.Ser1417CysfsTer4) co-segregating with hearing loss in this family and not present in any public databases. Our findings not only extend the geographical and mutational spectrum of autosomal recessive nonsyndromic hearing loss but also support the need for introducing genetic counselling services to rural and tribal areas in India with high consanguinity. [ABSTRACT FROM AUTHOR]