Ep. 19: Lafora Disease Experts on Clinical Trials, Challenges Funding Rare Disease Research
In this episode, VibeCast host Ray Dogum speaks with Niki Markou, Director of Family Support, Marketing & Communications at Chelsea's Hope, and Jordi Duran, PhD, Principal Investigator at IQS Barcelona about Clinical Trials and the Challenges they face Funding Rare Disease Research. Watch Fighting the Rare: https://www.fightingtherare.com/ A documentary on the importance of biomedical research to find treatments for rare diseases. Fighting the Rare is a glimpse into research on Lafora disease, a rare neurodegenerative condition, through the testimonies of researchers, patients and their relatives. The key moments in this episode are: 00:00:00 - Intro 00:01:11 - Welcoming the Guests: Niki Markou and Jordi Duran, PhD 00:02:55 - What is Lafora Disease? 00:08:07 - Real-Life Experience with Lafora Disease 00:11:58 - Importance of Research and Funding for Lafora Disease 00:15:56 - Positive Progress and Diagnosis Journey, 00:18:40 - Challenges in Rare Disease Diagnosis, 00:20:06 - Genetic Testing and Birth Screening, 00:21:15 - Documentary: Fighting the Rare, 00:24:51 - Challenges and Emotional Impact on Families, 00:32:39 - The Discovery of Glycogen as the Problem in Lafora Disease, 00:33:09 - Challenges in Drug Delivery to the Brain, 00:34:27 - Similarities between Lafora Disease and Alzheimer's, 00:37:04 - Potential Impact of Lafora Disease Research on Other Neurodegenerative Conditions. Guest Bio: Niki Markou lives in Sydney, Australia and is the mother of a 19 year old girl named Angelina who has Lafora disease. She volunteers on the board of Chelsea’s Hope Lafora Children Research Fund. Previous to her daughter's diagnosis, she had a full time career in marketing. Niki joined the board in 2021, starting off as a parent advocate to help families just like her stay informed and where she still continues to be in close contact with many families around the world. Her main role has been creating all marketing content and liaise with fellow board members, researchers, doctors and organizations to create more awareness for Lafora disease and find possible treatments that could lead to a cure. Niki joined fellowships in the aim to learn about how to reduce barriers to entry into early access around the world, through learning, discussion, networking and support. Jordi Duran is a Principal Investigator and Associate Professor at Institut Químic de Sarrià (IQS) - Ramon Llull University (URL) in Barcelona. My research group is devoted to the study of brain metabolism, in particular the physiological roles of glycogen in brain functioning and its pathological role in neurodegenerative conditions like Lafora disease. Guest Links:
Chelsea's Hope Linkedin Twitter Instagram Tiktok Jordi Duran, PhD Linkedin Twitter Instagram Follow Vibe Bio's Socials: Twitter
Facebook About VibeCast VibeCast is our weekly informational podcast and content series exploring the hottest topics in drug development and Web3 with some of the dynamic people that make up the Vibe community. VibeCast is a collection of long-form and short-form video content intended to help our community learn about the current opportunities and challenges in biotech fundraising and community engagement innovation. Guests will include biotech founders, regulatory experts, drug development executives, blockchain technologists, web3 community builders, patient community advocates, and many other Vibe Bio community members seeking to accelerate the development of breakthrough treatments. Disclaimer: VibeCast is intended to be used for educational and entertainment purposes, and no information or opinions shared constitute advice or services. While guests are invited to listen, listeners acknowledge they are not being provided professional advice from the podcast or the guests. The podcast is for private non-commercial use and guests do not necessarily reflect any agency, organization, or company that they work for.
