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Scholar Maps Rare Genetic Disorders Across India

Detailed study:Aditi Kantipuly has spent the past 

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seven weeks visiting many States, meeting at least one child with a genetic disorder.— Photo: Special Arrangement” width=”318″ height=”138″ /> Detailed study:Aditi Kantipuly has spent the past seven weeks visiting many States, meeting at least one child with a genetic disorder.— Photo: Special Arrangement

Blood tears, countless benign tumours in vital organs and accelerated ageing were among the 30 rare genetic disorders that a young doctor-in-the-making has mapped across India as part of her research as a Fulbright scholar. Aditi Kantipuly, a student of medicine at the Johns Hopkins University, has spent the past seven weeks visiting several States and meeting at least one child with a genetic disorder.

Documentation

The documentation of these rare conditions, Ms. Kantipuly hopes, will come in handy in creating a national registry of rare diseases that will not only record each case but will also create ground for allocation of resources for treating these conditions. For many of the people she met, the cost of treatment was prohibitive and their families, poor.

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