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By Abdul Qadir Qureshi (Pakistan News & Features Services) The policymakers and stakeholders were unanimous in their plea to pay greater attention to the challenges posed by rare diseases in Pakistan as they shared their thoughts and vision in the conference to mark Rare Disease Day 2020 at the Aga Khan University (AKU), Karachi.  It was noted that globally there are over 6,000 diseases classified as rare as they affected fewer than 1 in 2,000 people while in Pakistan, these diseases are not so rare because a major risk factor is prevalent: inter-family marriages which significantly raise the risk of their children suffering from genetic defects and disorders.  Dr Bushra Afroze, associate professor at AKU and a clinical geneticist at the University’s teaching hospital, shared the story of a girl from a small town in Sindh, to explain how the health care system’s shortcomings were affecting those living with rare diseases.  “The girl was eight when the u...

By Abdul Qadir Qureshi (Pakistan News & Features Services) The department of Pathology and Laboratory Medicine, in collaboration with Division of Women & Child Health, of the Aga Khan University (AKU), Karachi, is holding Multidisciplinary Conference on Rare Genetic Diseases in Pakistan from March 4 to 7.  The conference will bring together genetic researchers, pathologists and child health specialists from public and private sector organizations across the country at one platform.  The programme is focused at outcome and challenges in management of inherited metabolic disorders, newborn screening, rare disorders case presentations and good laboratory practices alongside the ethical challenges.  Furthermore, international experts form USA, Italy and New Zealand will also address the symposia and facilitate workshops to train the local work force aimed at establishment of Newborn Screening in the country.  The conference provides the op...