How science and big data are helping in the search for an effective treatment of a rare disease that causes blindness

Approximately 35,000 people worldwide have LHON, a genetic condition that affects the optic nerve, which sends visual information from the eye to the brain. In most cases, LHON – short for Leber’s hereditary optic neuropathy – leads to severe vision loss in both eyes, usually beyond the threshold of legal blindness and mostly among young men. In this episode of Ideas to Innovation Season 2, two special guests discuss the challenges of this rare disease on patients and their families. They help explain, too, the role and work of scientific research in seeking answers.

Our first guest, Lissa Poincenot, is the mother of a son who became affected by LHON in 2008 when he was 19 years old, and a daughter who was affected in 2018 at age 26. Today, Lissa, a resident of Carlsbad, California, is focused on supporting and developing the LHON community. She is a published author and founder of the www.lhon.org, a global network of Facebook groups and support groups among people whose lives have been impacted by LHON. Shyama Ghosh, our second guest, is senior principal content editor at Clarivate, based in Antwerp, Belgium. She has a strong interest in rare diseases and advocates for relevant reporting to increase awareness about such conditions. During the COVID-19 pandemic in 2020, Shyama was part of a team of Clarivate epidemiologists who created a COVID-19 medical dashboard to help vaccine manufacturers harness the large volume of information emerging from various sources.