آدمی موت سے ڈرتے ہیں جیسا کہ بچے اندھیرے میں جانے سے ڈرتے ہیں۔ اور جیسا کہ کہانیوں سے بچوں کا فطری ڈر بڑھ جاتا ہے۔ یہی حال موت کا ہے یقیناً موت کی سوچ ، کہ یہ گناہوں کی اجرت ہے۔ اور دوسری دنیا کا راستہ مقدس اور مذہبی ہے۔ لیکن یہ انسانی فطرت کے قانون کے مطابق واقع ہوگی یہ ڈر کمزور ہے۔ تاہم مذہبی غور وفکر میں یہ بعض اوقات تکبر اور تو ہم پرستی ہوتی ہے۔ آپ نے کچھ پادریوں کی نفس کشی کی کتابیں پڑھی ہوں گی کہ ایک آدمی اپنے آپ میں سوچتا ہے کہ انگلی کو دبانے اور ایک اذیت دینے سے ہم درد کیوں محسوس کرتے ہیں؟ اور اس سے ہم تصور کر سکتے ہیں کہ موت کے درد کیا ہوں گے ۔ جب سارا جسم تباہ اور تحلیل ہوتا ہے جب بہت مرتبہ موت ایک عضو کی اذیت سے کم درد کے ساتھ گزرتی ہے تو بہت زیادہ اہم حصوں میں تیز حِس نہیں ہوتی ۔ اور اس سے جو محض ایک فلاسفر اور فطری آدمی کے طور پر کہتا ہے ، یہ بڑا اچھا کہا گیا تھا ۔ موت کی مذہبی رسومات کی رفاقت موت سے زیادہ خوف ناک ہوتیں ہیں ۔ آہیں، پریشانیاں اور بے رنگ چہرہ اور دوستوں کا رونا اور سیاہ کپڑے اور رسومات موت کو خوفناک دکھاتے ہیں یہ مشاہدہ کرنے کے قابل کہ انسان کے ذہن میں کوئی جذبہ اتنا کمزور نہیں۔ لیکن یہ موت کے ڈر کو زیر اور مغلوب کرتا ہےاور اس لیے موت خوفناک دشمن نہیں ہے۔ جب ایک آدمی کے پاس موت کے لیے بہت سے جذبات ہوں جو کہ موت کی جنگ سے جیت سکتے ہیں۔ بدلہ موت سے جیت جاتا ہے محبت اس کی پرواہ نہیں کرتی۔ مرتبہ اس کی خواہش کرتا ہے غم اس کو...
Pakistan’s economy is firmly linked to agriculture and food production. Since the inception of the country, no real land reforms have been undertaken, and the rural elite remains a major force in controlling agricultural land. At the same time, since the 1990s the country has also followed a neoliberal agenda, through the International Monetary Fund led structural adjustment programs, and then later after Pakistan’s entrance in the World Trade Organisation in1995. The trade liberalisation agenda of the advanced capitalist countries, especially the United States, have been consistently implemented in the country. In this context, it is clear that at least two different levels of political and economic forces are present in the rural economy. There is also no doubt that Pakistan also has a strong patriarchal society, which governs the social and economic norms of society.
The inherited visual disorders are leading cause of blindness all over the world. In Pakistan, where consanguinity is common, high prevalence of genetically transmitted visual disorders is a serious health problem from socio-economic aspect. The present study was aimed to investigate the genetic and molecular basis of various inherited visual disorders in Pakistani population. For this purpose, we enrolled Twenty seven families suffering from Primary Congenital Glaucoma, Stargardt disease and Congenital Cataract from different cities of Sindh province. Blood samples were obtained from affected as well as normal individuals from all enrolled families and detailed medical history and ophthalmological examination were carried out. All families were first subjected to genotyping to known/reported loci or genes for Primary Congenital Glaucoma (PCG), Stargardt disease and Congenital Cataract. Whole Exome Sequencing (WES) was done for the families found not linked to any known locus/gene and candidate variants were subjected to direct Sanger sequencing for segregation with the disease phenotype. Seventeen families with PCG were enrolled for present study. Thirteen PCG families were found linked to CYP1B1 gene. Sequencing further revealed two novel mutations in CYP1B1i.e. p.G36D and deletion of 12 bp (p.G67-A70del) in PCG-08 and PCG-09 respectively. p.R390H was found in eight PCG affected families whereas p.E229K and p.R290fs*37 (c.868_869insC) was found once in two families. p.A115P was found in one family with four phenotypically normal homozygotes as well most probably due to either non-penetrance or reduced penetrance of CYP1B1. Four families remained unlinked to any reported locus or gene for PCG. Five Stargardt disease affected families and five families with Congenital Cataract were screened for linkage to known or common loci/genes. After excluding linkage to reported genes, WES for two Stargardt disease families revealed a novel gene ARL3, which has not been reported earlier. Likewise we carried out WES for a single congenital cataract and it was found linked to INPP5K, a novel gene and has recently been reported in association with syndromic form of congenital cataract in 2017. xvii In brief, the study reports CYP1B1 as most common mutated gene for patients with PCG in our population. Two novel mutations, a missense and a deletion in CYP1B1 were found, in addition to already reported mutations in other PCG families whereas a novel gene (ARL3) was identified in association with Stargardt disease. In Congenital Cataract, INPP5K (a novel gene when it was first identified in November, 2016) was found to be segregated with disease phenotype. All these novel findings are suggestive of genetic heterogeneity of Pakistani population for inherited visual disorders and genetic factors responsible for corresponding phenotype. The data may be beneficial for public awareness and genetic screening of our population to improve the prognosis of corresponding genetic disorder by early diagnosis. In addition, the findings of this thesis may contribute to already existing data on inherited visual disorders especially when no significant work in this regard has been carried out in people of Sindh province of Pakistan.