Season 2, Episode 6: Jess of Visionaries

In this episode of the In Focus Podcast, we sit down with former RI president Christina Fasser to talk about the challenges the retina community face when emerging from lockdowns into the “new normal.” Christina talks about adjusting to changes in one’s surroundings, attending regular eye check-ups, and re-entering the job market, as well as what governments and policymakers can do to ease these transitions.

In this episode of the In Focus podcast, Retina International CEO Avril Daly speaks with Elfride De Baere about the importance of receiving a genetic diagnosis for IRDs. Elfride De Baere, MD, PhD, is currently Professor of Ophthalmic Genetics at Ghent University, clinical geneticist at the Center for Medical Genetics, Ghent University Hospital and Senior Clinical Investigator of the Research Foundation Flanders (FWO). Her research areas of interest are the genomic and pathophysiological basis of inherited retinal diseases; developmental genetics and gene regulation; and clinical and functional genomics. She is the coordinator of several European research consortia and member of the European Retinal Disease Consortium (ERDC) and the European Reference Network for Rare Eye Diseases (ERN-EYE). Elfride serves/ on the scientific program committee of ARVO and ESHG and is on the Scientific Advisory Board of the Foundation Fighting Blindness. In this episode, Avril and Elfride discuss the importance of genetic testing for IRDs from the perspective of research. Elfride tells us of the benefits of receiving a genetic diagnosis for retinal patients and their families, as well as the challenges that people in different regions face in accessibility. They close the episode by discussing what gives them hope for the future of genetic testing, including electronic platforms, educational programs, international registries, and more.

This episode is a true story that comes from Visionaries, a series created in collaboration with Retina International and Roche to highlight the unique experiences and challenges faced by people living with retinal conditions and their loved ones. This is Jess’* story. She received an unexpected diagnosis of diabetes-related retinopathy and DME shortly after graduating from university. In the beginning, Jess found treatment challenging and received little support. She became depressed, but a psychiatrist helped her feel more positive about the future. “It’s difficult, but I’m determined to live my life as an ordinary person, to work, and have my own independence," Jess says. Retina International CEO Avril Daly hosts this podcast with special guest commentator, Renza Scibilia, diabetes advocate who writes at ‘Diabetogenic’. * This is a real story of a young woman living with DME in China. To respect her wish to remain anonymous, we are using the pseudonym of Jess and a voiceover actor in this podcast.

For this episode of the In Focus podcast, in honor of Diabetes Awareness Month, RI CEO Avril Daly speaks with consultant ophthalmologist Professor David Keegan. Professor Keegan is a graduate of the Royal College of Surgeons in Ireland and now specialises in medical and surgical retinal disease including paediatric retinal surgery and diabetic retinal disease. He runs the Mater Multidisciplinary Inherited Retinal Degeneration and Diabetic Retinal Treatment Services along with the Retinal Clinical Trials Unit. He is the lead for Ireland’s collaborative application to the European Reference Network for Rare Eye Disease (ERN-EYE) and is also a member of the Retina International Scientific Medical Advisory Board (SMAB). In this episode, Avril and Professor Keegan discuss how diabetes affects the eyes and why early detection is so important in preventing sight loss. Keegan tells us how screening for diabetic eye diseases works, and what preventative measures and treatments are available to preserve sight. They also discuss the theme for this year’s World Diabetes Day, “Access to Diabetes Care: if not now, when?” Unfortunately, in many parts of the world, people with diabetes don’t have access to the education and screening programs that are vital to their eye health. Professor Keegan also talks about the stigma around diabetes, and why it’s important to be compassionate and understanding towards people with this lifelong condition. Diabetes can affect people of all ages, all around the globe in many different ways. With over 500 million people in the world living with diabetes today, it is vital that they receive the ongoing care and support needed to manage their condition, avoid complications, and maintain their vision. If you’d like to learn more about this year’s World Diabetes Day, visit https://worlddiabetesday.org/. For more information on Diabetes-related Eye Diseases, please visit the DED toolkit (link) on our website: https://ded.retinaint.org/

In this episode of the In Focus podcast, RI Communications Officer Dana Hufe speaks with Claudette Medefindt and Karen Denton from Retina South Africa. Claudette Medefindt is the Head of Science and Patient Services for Retina South Africa and has been a patient advocate for the past 40 years. Karen Denton heads Advocacy and Education there, and is a worldwide expert on AMD and diabetes. They discuss the impacts of the Covid-19 pandemic on the retina community—on eye health, daily living, and the progress of retinal research. They also offer advice for adjusting to the challenges of the pandemic, through living a healthy lifestyle and utilizing technology for assistance. For more information on the impacts of Covid-19 on the retina community, you can visit our World Retina Day press release.

In this episode, Retina International Communications Officer Dana Hufe talks with legally blind culinary expert Mary Mammoliti. Mary is a disability advocate and the owner of the blog and Instagram account Kitchen Confession. She also has a food segment on a biweekly radio show and has made TV appearances on The Marilyn Denis show and Breakfast Television among others. Mary hosts two podcasts and has just begun the first season of her television show Dish with Mary. In this episode, Mary talks about how her diagnosis of retinitis pigmentosa led her to leave her career in finance and become a chef. Mary says that she is now the happiest she has ever been, even with less sight. She tells us about her interesting life, cooking with crickets, and how she navigates the kitchen using all her senses. She also discusses the importance of inclusivity and the presence of people with disabilities in the media. You can learn more about Mary from her blog and  Instagram account, both titled Kitchen Confession. You can also watch her show Dish with Mary on Accessible Media Inc.

In the second episode of series 2 of the In Focus podcast, RI’s Fiona Waters speaks with Martin Sigsworth about career development for people with low vision. Martin Sigsworth is the Senior Employment manager at Thomas Pocklington Trust. He is passionate about enabling blind and partially sighted people to achieve their employment goals and feels with the right workplace adjustments any career is possible. A blind person himself, he has worked in a number of sectors from media to recruitment and uses all of these experiences to design and implement employability programmes which support blind and partially sighted people into work. In this episode, Martin talks about his work with Thomas Pocklington Trust, and the resources they provide for visually impaired people in their career search, including CV templates, mock interviews, and much more. He also discusses the importance of resilience and seeing a visual impairment as a benefit to any organisation. The guiding advice laid out in this interview is an asset to any job seeker looking to begin or further develop their career.

Fiona Waters begins series 2 of Retina International’s In Focus podcast by welcoming Laura Whelan. Laura Whelan is a third year PhD candidate in Prof. Jane Farrar’s lab in Trinity College Dublin. Laura’s work is carried out as part of the Target 5000 study, which aims to provide clinical and genotyping services for people living in Ireland with an inherited retinal disease. Laura has a particular interest in non-coding DNA variants and their role in these diseases. Laura is also interested in making science more open to the public and can be found on Twitter and Instagram @ phdwithlaura, where she shares her work and life as a PhD student. In this week’s episode, Laura talks about her research and who and what motivated it. She also discusses patient engagement and why it’s so valuable for researchers to involve patients in their process. In addition, Laura discusses science communication, how she became interested in it, and why she chooses to share her research with the world. You can learn more about Laura and her life as PhD student by visiting her social media pages.

On this week’s episode of the RI In-Focus podcast, Dr. Orla Galvin welcomes Professor Jose Carlos Pastor from the Institute for Applied Ophthalmology (IOBA) in Valladolid, Spain, who is Director of the IOBA retina group. Jose is also an ophthalmologist and joins Orla to discuss his experience of COVID-19 and its impact on ophthalmology which he believes is not being considered a priority health discipline, particularly from his experience within the clinic. Additionally, Jose speaks very passionately about the need for adopting a multidisciplinary and more unified approach to advancing research in all specialties, something he feels will emerge after the COVID-19 pandemic as scientists from various research collaborate in earnest to develop a safe and effective vaccine.

This week, Avril welcomes Brian Mansfield, PhD from Foundation Fighting Blindness to the RI In-Focus podcast. Brian is Chief Scientific Officer and Executive Vice President of Research with FFB and joins Avril to discuss the MyRetina tracker registry; a research database of people and families affected by rare inherited retinal degenerative diseases (IRDs), which is provided by FFB. Brian explains the importance of knowing your genetic code and how the MyRetina tracker works to help people understand the condition that they live with. In this way, it helps to accelerate the discovery of treatments and cures for IRDs by sharing de-identified information within the research and clinical communities to enhance our understanding of the genes causing the disease, how the disease progresses and how it impacts people’s lives. For people that are interested in joining the registry, Brian also offers information so that you can get involved. If you wish to enquire further about the registry, please contact: [email protected] Further information on Genetic Testing is available on the Foundation Fighting Blindness website: Open Access Genetic Testing Program General Genetic Testing Information