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More than 300 million people globally are affected by around 7000 rare disorders. Of them, 70 million reside in India. More than 80% of these disorders are genetic and 70% start in childhood. About 30% of children suffering from rare disorders die before the age of five. The major reason is misdiagnosis or delayed diagnosis. Many times, the symptoms of the disorders start manifesting later in life and are fatal but because these disorders are not screened earlier, several lives are being lost.
Delayed diagnosis can lead to significant health complications and reduced quality of life. Genome informatics solutions can help identify genetic risk factors and inform personalized treatment plans. Early diagnosis and targeted interventions can lead to better health outcomes for children with rare disorders.
A cost-benefit analysis performed by a US-based agency showed that screening and accurate diagnosing of a disorder is much more cost-effective as compared to treating or managing a patient with a rare disorder.
By addressing these needs, our platform offers a valuable solution for the paediatric community and provides an accurate, efficient, and accessible way to diagnose and screen rare paediatric disorders.
At Genomiki Solutions, we envision transforming healthcare by developing genomic diagnostic and screening solutions for inherited disorders. We are developing genome-informatics solutions enabled with big-data analytics and artificial intelligence, meticulously designed to pinpoint specific genetic variants linked to disorders and also enable AI-enabled therapy recommendation platform.
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