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PediaCast: Pediatric Podcasts for Parents

Rare Genetic Diseases - PediaCast 398

PediaCast: Pediatric Podcasts for Parents

Dr Mike

Pediatrician, Hospital, Immunization, Pediatric, Illness, Doctor, Family, Health, Science & Medicine, Pediatrics, Kids & Family, Parents, Kid, Children, Kids, Parent, Vaccine, Child, Wellness

4.8598 Ratings

🗓️ 28 February 2018

⏱️ 57 minutes

🧾️ Download transcript

Summary

Join us for a look at rare genetic diseases. One or another of these conditions affects 30 million Americans, which means taken as a whole, they aren’t really rare! Dan Koboldt (principal investigator with the Institute for Genomic Medicine) and Theresa Mihalik Mosher (genetic counselor) visit the studio as we explore the discovery, investigation, diagnosis and treatment of rare genetic disease. We hope you can tune in!

Transcript

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0:00.0

This is PediCast.

0:20.0

Welcome to Pediacast, a pediatric podcast for parents.

0:24.7

And now, direct from the campus of nationwide children's, here is your host, Dr. Mike.

0:29.9

Hello, everyone, and welcome.

0:31.7

Once again to PDACast.

0:33.6

It is a pediatric podcast for moms and dads.

0:37.0

This is Dr. Mike, coming to you from the campus of

0:39.5

nationwide children's hospital. We're in Columbus, Ohio. It's episode 398 for February 28th, 2018.

0:48.3

We're calling this one rare genetic diseases. I want to welcome everyone to the program.

1:00.6

So it is the last day of February, and you may not realize it, but the last day of February each and every year is rare disease day.

1:04.6

And this was news to me, by the way, I had not heard of rare disease day before.

1:09.8

It's been around a while. It started back in 2008, so 10 years

1:14.1

ago. And the idea was to raise awareness about rare diseases and the unique challenges in

1:21.6

researching, diagnosing, and treating these disorders that affect a relatively small number of people, which is an

1:29.6

important consideration because, as you know, one component of health care is business.

1:35.4

And when a relatively small number of people are affected by a particular condition,

1:41.7

there isn't always the same drive to research, develop,

1:45.3

produce, and distribute new knowledge and treatment strategies because there isn't going

1:51.0

to be as much demand for that knowledge and the products, which is an unfortunate consequence

1:56.9

of a health care delivery system that's rooted in a free economy.

2:01.8

But the good news is it doesn't have to be this way.

2:04.8

And in fact, in 1983, the United States Congress passed the Orphan Drug Act.

...

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