We have heard the exciting news that the assay found 116 hits, 43 of which are already approved for other conditions. Sanath has pulled together a team of experts to help him sift through this list of compounds and develop a plan for systematically assessing the various properties of these compounds. This is where the hard work begins.

The whole theory behind HTS is 'shots on goal'. The more shots you take, the more likely one of them will score. In the biopharma industry, HTS is done at an industrial scale with literally millions of shots on goal. Because SSMD is so rare, they have no idea what to expect from this relatively small sample. This is groundbreaking work.

Two years ago, Sanath had no exposure to the research process and even had to look up the definition of a gene. In this episode, he sounds like a seasoned researcher. He takes us from where they started, hoping to repurpose an existing drug, through the first few treatments they tried, and finally to the program they have established to look at the potential of thousands of medicines.

We are starting a unique 3-part series about a couple of rare disease Dads finding themselves doing things they never expected. We are talking to Bo Bigelow whose daughter Tess has Hao-Fountain Syndrome (USP7).

We are starting a unique 3-part series about a couple of rare disease Dads finding themselves doing things they never expected. We are talking to Bo Bigelow whose daughter Tess has Hao-Fountain Syndrome (USP7).

We are starting a unique 3-part series about a couple of rare disease Dads finding themselves doing things they never expected. We are talking to Bo Bigelow whose daughter Tess has Hao-Fountain Syndrome (USP7).

It was a chance of a lifetime, but it was scary for 10-year-old. Billy tells us about his memories and perspective being in a clinical trial for Duchenne Muscular Dystrophy. 

It was a chance of a lifetime, but it was scary for 10-year-old. Billy tells us about his memories and perspective being in a clinical trial for Duchenne Muscular Dystrophy. 

They were on the front lines of research that has now brought hope to some boys with Duchenne Muscular Dystrophy. Exon skipping clinical trial.

The costs of raising a rare child are daunting. Last time, we talked about the medical costs. In part 2 of the conversation, we are going to go a little bit deeper. We are going to discuss the impact on Sanath and Ramya’s lives, their mental health, and their relationships.

The Everylife Foundation released a report in February 2021 that showed the overall economic burden of rare disease in the US is approaching ONE TRILLION DOLLARS every year. That is an attention-grabbing number. But what does it really mean? We explore this question through Raghav’s story.

Cystic Fibrosis was a terminal disease when Nicole Horvath was born. She shouldn't be here. But she is, due to the research efforts of the Cystic Fibrosis Foundation.

In this episode, Sanath explains the origins and future of Open Treatments. (www.opentreatments.org )

Parents cannot focus 100% on the child as well as make progress toward a treatment. It’s just not humanly possible.

In Part 2 of our powerful interview with author Miguel Sancho and his wife Felicia Morton we talk about the myriad decisions that parents raising a child with a rare disease must make.

We have all heard the inspiring stories of a family that suddenly faces the trauma of a rare diagnosis, become advocates for themselves or their child, finds a solution, and celebrate the triumph. This one is different.

In this episode, we hear about the options they looked at before finally deciding to go with a Cochlear Implant. We talk about how a cochlear implant works and the high-tech capabilities it has. We also hear the surprising results of this change and the impact it is having on their lives.

We discuss how life has prepared each of us for what we are doing today. We learn a little about the vastly different childhoods that Effie and Sanath had. Each has uniquely shaped them to contribute their part to the larger rare community.

We have a very special guest, fellow podcaster and rare Mom, Effie Parks. Effie is the host of the wildly popular Once Upon a Gene Podcast and creator of Once Upon a Gene TV. This is part 1 of a two-part interview.

In this episode, we continue talking to Nikki, who started RareMamas.com in an effort to help other mothers who have recently received a rare diagnosis for their child. Rare Mamas will be a safe place for new mamas to go to share their stories, share their worries, and get the support they so desperately need.