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.
Shyama Ghosh, Ph.D., is a molecular biologist with more than 20 years of experience in the field of infectious diseases, vaccine development, and molecular epidemiology. At Clarivate, she serves as Senior Science Editor of the Incidence & Prevalence Database, which provides accurate, high quality epidemiological and market research data that enable and encourage our clients to develop healthcare products and services that make a positive difference in the lives of individual patients. Shyama is past President of the Belgian Society of Parasitology. Prior to Clarivate, she conducted research at the Tropical Institute in Antwerp, Belgium, on malaria/schistosomiasis and HPV in collaboration with several African countries and has taught parasitology as a visiting professor at Jimma University in Ethiopia and the National University of Rwanda in Butare. Shyama holds a Ph.D. in molecular biology from the Free University of Brussels. Currently based in Antwerp, Belgium, Shyama is a member of International Inner Wheel. 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 epidemiologist who created a Covid-19 medical dashboard to help vaccine manufacturers harness the large volume of information emerging from various sources.
When Lissa Poincenot’s oldest son suddenly became legally blind at age 19 due to Leber Hereditary Optic Neuropathy (LHON), she looked for an organization that could provide support. She wanted to assist with LHON fundraising to ensure there would be a cure before her other two children also lost vision to this maternally-inherited disorder. Upon learning there was no such group for this mitochondrial disorder that affects only about 100 people in the U.S. each year, she created the www.LHON.org website. She is working to develop a large and active global LHON community that guides families through the many challenges of a LHON diagnosis. She leads many LHON Facebook groups and Zoom events that provide families around the world the resources they need to live well with LHON. Lissa created and leads the LHON Project at UMDF. The organization offers an annual LHON Conference that brings LHON families together for education and information-sharing.
Prior to becoming a LHON Patient Advocate, Lissa was a Marketing Executive in various industries including golf, hot tubs, and solar energy. Lissa graduated from Princeton University magna cum laude, and earned an MBA at UCLA where she was named one of 100 Inspirational Alumni. She received the UMDF’s 2019 Stanley A. Davis Leadership Award, and the 2022 NANOS Neuro-Ophthalmology Champion Award.
Hear inspiring stories told from a personal, on-the-ground perspective from the people who were there from the start, who are most passionate about the positive outcomes they helped deliver. These are stories about innovation that, by the end of each episode, you can’t help but think: “Wow, they really did that?”