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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Article: Tech-savvy dad launches open-source platform to save children with rare diseases – including his son

Cures, Open Health
Sanath Kumar Ramesh with his son, Raghav

Tech-savvy dad launches open-source platform to save children with rare diseases – including his son

This special series focuses on important community issues, innovative solutions to societal challenges, and people and non-profit groups making an impact through technology. On a beautiful August day in a Bellevue park, just as he was getting ready to cut the cake for his little boy’s first birthday, Sanath Kumar Ramesh got a call from his son’s doctor.

At last he knew what was making his child sick, what was preventing Raghav from being able to eat on his own, raise his head or hold a toy. It was a mutation at a single spot in his genetic code.

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