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.
Some 400 million patients worldwide are affected by more than 7,000 rare diseases; yet treatments for rare genetic diseases remain an underserved area. More than 95 percent of rare diseases do not have an approved treatment, and new treatments are estimated to cost more than $1 billion.
Sanath Ramesh created the RareCamp project and the OpenTreatments Foundation to enable patients to create gene therapies for rare genetic diseases and then work with their doctors and nonprofit organizations to develop drugs. The Linux Foundation, the nonprofit organization enabling mass innovation through open source, is helping those efforts succeed.
There are 400 million patients worldwide affected by more than 7,000 rare diseases, yet treatments for rare genetic diseases are an underserved area. More than 95% of rare diseases do not have an approved treatment, and new treatments are estimated to cost more than $1 billion.
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.