The Role of D F M O in the Development of Bachman Up Syndrome

2min Snip

00:00

Play full episode

Summary

Transcript

Episode notes

D F M O is a suicide inhibitor of the enzyme. So it just gobbles it up and some of the data that we have showed that really even within the first week of treatments,. everything went back to normal, which is really exciting. The polyamine pathway, there's about 20 or 25 genes in it. And from the mid 60s until our syndrome, one syndrome had been discovered 40 years, one syndrome.

Join us today for a conversation on the exciting progress and possibilities of genetics in pediatric care, with Dr. Caleb Bupp. Caleb is the Division Chief of Medical Genetics and Genomics at Spectrum Health and Helen DeVos Children’s Hospital, and we get to hear from him about his path into this role, and how he first discovered his passion for helping young ones. Our guest comments on the central themes of parental communication, cost reduction, and genetic exceptionalism before we delve into some of the most noteworthy points of progress in the pediatric field at the moment. We look at the Project Baby Bear and Project Baby Deer programs, and the important impact that the speed and timing of results can have on the care of kids, with Caleb explaining the societal norms and expectations around genetics and engagement with these datasets. He also raises some concerns about access to care and shares an inspiring success story from the last few years, so make sure to tune in to get it all.

If you have a sick kid and you can do a test to figure out why they’re sick really fast, you give better care.” — Dr. Caleb Bupp Key Points From This Episode:

Caleb takes us through his career journey and the roots of his interest in genetics and pediatrics.
Reflection on the Concert Genetics Conference and Caleb’s involvement.
Reducing costs and freeing up resources for more impactful care.
Thoughts on the intangible value of providing comprehensive patient information for parents.
Dr. Bupp weighs in on the topic of genetic exceptionalism.
Surprising recent developments in fields of genetics and pediatrics.
Potential challenges with the amounts of information that clinicians needs to process.
Experiences and progress with the Project Baby Bear program.
Caleb’s recent paper and presentation on the work at Project Baby Deer.
The impact of earlier and faster intervention when treating children.
How more proactive and effective screening can affect general societal health.
Caleb shares the standout story of a patient with variants of uncertain significance and DFMO (difluoromethylornithine, a substance being studied in the treatment of cancer).
Applying the principals of drug repurposing to other scenarios.
Looking to the future and Caleb’s hopes for the short and long-term of the pediatric space.