Article: Open-source platform using gene therapy to find a cure for kids with rare diseases

Cures, Drugs, Open Health, Procedures (Medical)

Open-source platform using gene therapy to find a cure for kids with rare diseases

The genetic condition that affects Raghav is called Sedaghatian type Spondylometaphyseal Dysplasia (SSMD). SSMD causes cardiac arrhythmia and abnormalities in the skeletal and central nervous system. Doctors said Raghav would be a wheelchair user, non-verbal and likely to die prematurely. A diagnosis that Ramesh, a software engineer with Amazon, and his wife were unwilling to accept.

Along with his work at Amazon, Ramesh started Googling for information regarding the genetic condition that was affecting his son and read up all the relevant literature regarding gene therapy and other treatments that were available on this rare disease.

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