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

Four hours after his son Raghav was born, doctors told Sanath Kumar Ramesh his son was different. They had no idea why. For almost a year doctors conducted all kinds of medical tests on Raghav. The answer finally came on his first birthday. Raghav had an ultra-rare genetic condition. “This is a rare disease caused by mutation in a gene called GPX4”, said Ramesh. “Only two other babies were reported to have it. Both of them passed away few weeks after birth. Doctors were merely happy that Raghav was still alive!”

Sedaghatian type Spondylometaphyseal Dysplasia (SSMD) – What is it?

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. He narrowed down the pharmaceutical options for his son and within less than a month of the diagnosis, Raghav was taking a combination of drugs that included vitamins and other antioxidants. His doctors also received special approval from the Food and Drugs Administration (FDA) to treat Raghav’s genetic condition with a drug that was developed for a different rare disease. The treatment appears to have stopped the progress of the disease but is not a cure.

Learn more about the journey to find a cure for Raghav:

Supporting rare diseases with gene therapy

Ramesh, who is still with Amazon, recently launched a non-profit organisation called OpenTreatments Foundation and an open-source software platform called OpenTreatments. The Linux Foundation‘s open source software will be used to develop gene therapies for SSMD as well as other rare genetic diseases to help other families battling rare diseases. “I struggled to raise money, learn science, find experts, and create a treatment. Now I am building software to empower patients to build treatments”, says Ramesh.

Rare disease drug development is a complex maze. OpenTreatments software platform empowers patient-led organisations to navigate that maze and create treatments for the diseases they care about. We will enable the hand off of these therapies to commercial, governmental and philanthropic entities to ensure patients get access to the therapies for the years to come. – Sanath Kumar Ramesh, Founder-CEO, OpenTreatments Foundation

Ramesh and a team of volunteers have built OpenTreatments platform through a collaboration named RareCamp. He has raised $5 million from friends and family to fund the effort.

There are currently four rare diseases running as pilot projects on the open-source platform. This includes the genetic condition that affects Ramesh’s son Raghav SSMD as well as other genetic conditions like Kleefstra Syndrome caused by mutations in EHMT1 gene and congenital muscular dystrophy.

7,000+ rare diseases need research & new treatments

“There are 400 million patients worldwide affected by more than 7,000 rare diseases, yet treatments for rare genetic diseases are an underserved area”, according to Dr. Ashley Winslow, Chief Scientific Officer of Odylia Therapeutics, a non-profit organisation working to bring treatments to rare diseases and a collaborator of OpenTreatments Foundation. More than 95% of rare diseases do not have an approved treatment, and new treatments are estimated to cost more than one billion dollars. “Recently, patient groups have risen as the primary driving force behind drug development for rare diseases. The support provided by OpenTreatments to patient-led organisations will dramatically reduce both the time and cost of drug development, leading to more treatments reaching patients faster.”

“OpenTreatments will enable IDefine to accelerate our mission by distilling down the necessary steps in the development of a gene therapy program into a concise and approachable plan”, said Geoff Rhyne, Co-Founder-CEO, IDefine, a patient-led organisation tackling Kleefstra Syndrome.

What started off as one father’s desperate search to find a cure for his child has become a mission to find a cure for ALL kids battling rare diseases.

“It took me literally one year of work, conversations with hundreds of scientists and biotech industry groups and LOTS of rejections and dejections to get OpenTreatments up and running. I will continue to push the boundary until we find cures for ALL”, says Ramesh.