This week we are joined by two mitochondrial experts who are very active in the rare disease community. We are focusing our conversation on a condition called Leber Hereditary Optic Neuropathy (LHON).

Lissa Poincenot is a patient advocate with the United Mitochondrial Disease Foundation and she has a son that has been diagnosed with LHON. Devin Shuman (she/her) is a genetic counselor at Genetic Support Foundation who also has a nano-rare mitochondrial disorder called GUK1.

Lissa received a Bachelor’s degree from Princeton University, and an MBA from UCLA. In 2008 Lissa’s oldest son, Jeremy, suddenly became legally blind at age 19 due to a rare mitochondrial disorder called Leber Hereditary Optic Neuropathy (LHON). Jeremy has become a World Blind Golf Champion and Professional Inspirational Speaker.

Devin received her Bachelor’s degree in Psychology from Smith College in Northampton, Massachusetts in 2014 and her Master’s degree in Genetic Counseling from the University of California, Irvine in 2017. Devin is passionate about rare disease advocacy, public speaking, and inclusive care for LGBT and disability communities.

On This Episode We Discuss:
- Function of the mitochondria
- General symptoms that people with mitochondrial disorders experience
- How mitochondrial DNA impacts the inheritance pattern of mitochondrial conditions
- How the percentage of affected mitochondria correlates with the severity of symptoms
- Jeremy’s journey to a LHON diagnosis
- The percentage of people with the pathogenic variant for LHON that experience blindess
- Why people assigned as male at birth are more likely to be affected by LHON than people assigned female at birth
- Treatments available and clinical trials underway?
- Devin’s diagnostic odyssey and her unique perspective as a genetic counselor/patient advocate
- The support group that Devin leads for teens with mitochondrial disorders

To learn more about mitochondrial disorders, visit the United Mitochondrial Disease Foundation, MitoAction, and the Mitochondrial Medicine Society. You can also check out Devin’s Ted-Ed Mitochondrial DNA talk, read about mitochondrial donation, and watch this video about mitochondrial fission and fusion.

To learn more about Leber Hereditary Optic Neuropathy specifically, visit the LHON website, and check out the LHON Facebook group.

In this episode, we mentioned some of the support groups that Devin leads. If you have a mitochondrial disorder and want to connect to others in the community, check out the Facebook support groups for teens-20s and 20s-40s. Devin also runs a weekly Zoom support call for ages 16-35, you can register here.

Be sure to check out FreshCrayons on Etsy for your own mitochondrial plushy pillow that Devin showed off in the video!

If you found this episode topic interesting, check out episode 170 for more info about mitochondrial disorders, specifically primary mitochondrial myopathy.

Stay tuned for the next new episode of DNA Today on August 12th, 2022! New episodes are released on Fridays. In the meantime, you can binge over 195 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.

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Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow learners throughout the program. Applications are open now for the fall cohort which starts September 12th.

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