As a 11778G>A mutation carrier, Lissa Poincenot, founder of LHON.org, is forever connected to the Leber hereditary optic neuropathy (LHON) community.
After her son’s diagnosis in 2008, this mother turned advocate was determined to provide resources, tools, and easily accessible information to carriers and those diagnosed with LHON.
In her continued quest to find a cure by connecting research and LHON patients, Poincenot recognized a void.
“I’ve experienced what other families have and are experiencing. I wondered if anyone else in my maternal heritage was affected by the LHON mutation,” said Poincenot.
It’s a question that many ask if affected by LHON or carrying the mutation. However, few know the answer.
“I saw the need to help families find and contact their maternal relatives who were also likely carrying the LHON mutation,” said Poincenot.
As a result, the LHON Genealogy Project was created and funded through the Global Genes RARE Patient Impact Grant Program in 2016.
The LHON Genealogy Project also included genealogist, Carol Rolnick of Rolnick Research, and two genetic counselors, Karmen Trzupek of Informed DNA and Brianne Kirkpatrick of Watershed DNA.
“I located patient families through the LHON.org database; thanks to Dr. Nancy Newman at Emory University, who encouraged me to keep track of those I met in the community.” The project not only explored the maternal genealogy of families by locating the 11778G>A mutation, but also encouraged families to share their genetic information with extended maternal relatives.
“For those who have the desire, this project will help, teach, and provide them with the support they need,” Poincenot said. “It’s also an opportunity to take action to reduce their risk.”
Poincenot also mentions the benefits of knowing if you carry the 1778G>A mutation.
“Because it’s so rare, it’s one of the last things medical specialists think of, but if you know you carry the mutation, you can cut out a lot of unnecessary medical testing,“ she said.
Though the LHON Genealogy Project concluded in 2016, its resources and educational tools are still available and easily accessible. Kirkpatrick created two educational videos that provide families with the support they need to start sharing the information with maternal relatives.
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“It’s clear that genetic counselors, patients, and ophthalmologists see the value in these videos,” Poincenot said. “Now the challenge is getting it into the right hands and having people act as a result of watching it.”
Poincenot most recently discussed the benefits of the LHON Genealogy Project at the North American Neuro-Ophthalmology Society during a poster presentation.