Diagnostics and Screening

Rare Genetic Disorders (RGDs) are clinical conditions having underlying genetic origins. Though RGDs are of low prevalence and individually rare, collectively they affect a considerable number of people in a densely populated country like India. The diagnosis of RGDs is challenging due to overlapping symptoms, unavailability of genetic tests and costs for associated medical tests. Treatment relies solely on the correct diagnosis of the disorder. We aim at developing diagnostic kits for RGDs that are cost effective, suitable for carrier and newborn screening, and befitting disease associated genetic mutations common among Indian population.

Vertical Lead: Anirudha Lakshminarasimhan

Investigators: Shivranjani Moharir, Harvinder Kour Khera, Vasanth Thamodaran, Saveetha Meganathan

Activities:

Accurate diagnosis of Rare Genetic Disorders is crucial for treatment. Most commercially available diagnostic kits target genetic mutations prevalent globally and are not specific to the Indian population. Using molecular biology and genomics approach, we would develop indigenous, cost-effective, diagnostic kits, catering to the Indian population. The diagnostic kits would be designed in a way that they would be suitable for carrier screening and newborn screening at the population level.

Investigators: Shivranjani Moharir, Anirudha Lakshminarasimhan, Harvinder Kour Khera, Vasanth Thamodaran, Saveetha Meganathan

Collaborators:

  1. Divya Tej Sowpati, Karthik Bharadwaj, Centre for Cellular and Molecular Biology, Hyderabad
  2. Arvind Ramanathan, inStem, Bengaluru
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