Episode 18

Published on:

10th Oct 2020

Dr. Ethan Perlstein Discusses Drug Repurposing for Rare Diseases

One of our goals for Raising Rare is to introduce some of the scientists who are working on finding treatments for Raghav. Another goal is to educate our listeners about finding and developing treatments. In this episode Sanath and I spend some time with Dr Ethan Perlstein talking about various animal models that can be used to screen for active drugs. 

Dr. Perlstein is the CEO of Perlara, a Public Benefit Corporation that is dedicated to helping families seek treatments for rare genetic diseases. He is also one of the original members of the cureGPX4 Scientific Team. 

One of the key strategies cureGPX4 is using is called drug repurposing. The animal models are one way to screen existing approved drugs to see if they may have a beneficial effect. However, it is not as easy as it sounds.  Developing these animal models requires time and money. Selecting which model to invest limited funds in first is an extremely important decision. Dr. Perlstein shares his thoughts on how to approach it.

We hope you enjoy one of our more scientifically focused episodes. 

You can listen to Raising Rare directly or subscribe on iTunes, Spotify, Google Podcasts, YouTube, Facebook and more. You can follow us on twitter @Raising_Rare.

NOTE: We are continuing our discussion with Ethan Perlstein on the Improbable Developments podcast. There we will talk about his career and what drew him towards his work with animal models.

Sound Design and Music: Jacob Tompkins losstudiosnc@gmail.com

Graphics: Ramya Ramaswamy ramya@cureGPX4.org 

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About the Podcast

Raising Rare
Imagine the excitement of becoming a new parent and then within hours finding out your child has a serious developmental disorder.

That is exactly where Sanath Kumar Ramesh found himself in the summer of 2018. One year later, on his son’s first birthday, they found out that their son, Raghav, had an extremely rare mutation of the GPX4 gene. At the time, doctors told them that Raghav may be the only one on the planet with this genetic variant who had lived beyond one month of life. The prognosis is completely unknown.

They were alone.

They were scared.

And then they went into action.

And now they want to share their story.

Every couple of weeks Raising Rare will give you an update on baby Raghav as he grows up. We will also share how Sanath and his wife Ramya are driving toward a treatment for their son. We will explore the science that Sanath is initiating, their efforts to fund that research, and the people they meet along the way. We will also hear how the family adjusts to challenges and changes that they are faced with. Most importantly, we will share the wisdom they gain along the way so that other Rare Parents can learn from their steps and missteps.

We don’t know where this story will go. We do know we want you to join us for the journey.
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About your hosts

Sanath Kumar Ramesh

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Kevin Freiert

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