Dr. Vockley's Journey in Mitochondrial Disease Care

Episode 113 July 03, 2024 00:26:03
Dr. Vockley's Journey in Mitochondrial Disease Care
Energy in Action by MitoAction
Dr. Vockley's Journey in Mitochondrial Disease Care

Jul 03 2024 | 00:26:03

/

Show Notes

ENERGY IN ACTION - EPISODE 113

Dr. Vockley's Journey in Mitochondrial Disease Care

 

Dr. Jerry Vockley works everyday in the development and advancement of mitochondrial disease patient care. He is a Cleveland Family Endowed Chair in Pediatric Research, Professor of Pediatrics and Human Genetics, and Director of the Center for Rare Disease Therapy. 

 

EPISODE HIGHLIGHTS

 

What inspired your career in genetics and mitochondrial care?

I stumbled into genetics as an undergraduate and did undergrad research in genetics. My first job was also in genetics. I can't tell you precisely what triggered my interest in genetics, but it layered on and I can't imagine a different career. 

 

What is your research focus and goals for that research?

In clinical and medical genetics when I started in the field, there weren't the diagnostic advances we have now. The biggest advances came with the development of diagnostic technology. My focus is now on additional improvement and changes in technologies that have allowed us to move forward in therapy. Almost everything I do is therapy based. The area I'm excited about is that we're in the process of developing our first gene therapy for a fatty acid oxidation defect and we expect it'll be in clinical trials in a couple years. Fatty oxidation disorders didn't exist when I started my career because we didn't know about them. To go from not knowing about them to being able to cure them is powerful.

 

When you go into the lab and create experiments and conduct research, is it inspired by patients you see?

As an example of why we would do something like that, I once saw a 12 year old girl who had whole body psoriasis and physicians had only ever treated the psoriasis. I recognized that in addition to the rash, she was small for her age, had a small head size and she hadn't started showing any signs of sexual maturity. I suspected her case was more than just a rash and sent samples off to look for defects in steroid metabolism. Testing came back normal and so we went into the lab to look more broadly and identified a chemical that should have been there. We were able to confirm a gene that wasn't working and that led to us determining what the girl had and we were able to establish an effective treatment. 

 

 

LINKS & RESOURCES MENTIONED

International Network for Fatty Acid Oxidation Research and Management (INFORM) 

https://informnetwork.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.

linkedin.com/company/mitoaction

 

Other Episodes

Episode 88

July 12, 2023 00:40:41
Episode Cover

Exercise for Mitochondrial Patients

ENERGY IN ACTION - EPISODE 088 Exercise for Mitochondrial Patients   Dr. Nicole Voet joins us from the Rehabilitation Department of Radboud University Medical Center...

Listen

Episode 81

May 18, 2023 00:36:53
Episode Cover

Akron Children’s Hospital - Meet the Mito Clinic Team

ENERGY IN ACTION - EPISODE 081 Akron Children’s Hospital - Meet the Mito Clinic Team   We are joined by Dr. Iam Rossman, Dr. Stephen...

Listen

Episode 18

March 27, 2021 00:40:30
Episode Cover

It's Probably Genetic

Tune in to meet Lukas from Probably Genetic and learn how you can find out if their DNA test is right for you!

Listen