Advancing Telomere Research: A Breakthrough Leads to Clinical Trial скачать в хорошем качестве

Advancing Telomere Research: A Breakthrough Leads to Clinical Trial

This special episode of DNA Today was recorded live during Cocktails & Chromosomes, a celebration hosted by Team Telomere in New York City. Held at the stunning venue donated by Hogan Lovells (390 Madison Ave), the evening brought together the telomere biology disorder (TBD) community, including patients, families, clinicians, and researchers, for cocktails, connection, and powerful conversations. Two inspiring and informative guests join the episode: Jena Robertson is the Program Administrator at Team Telomere, a patient advocate, and mother to Lorelei (“Rori”), a young girl living with a telomere biology disorder. Will Mannherz is a MD-PhD Harvard Medical School student and co-author of multiple research papers exploring TBDs and emerging therapeutic strategies. Together, Jena and Will help us understand both the personal and scientific sides of TBDs, from diagnosis to discovery. Topics Covered in This Episode Jena shares the emotional and complex diagnostic odyssey for her daughter Rori that included multiple misdiagnoses. Rori’s final correct diagnosis of Dyskeratosis Congenita, which is a telomere biology disorder. What it’s like parenting a child with a rare, poorly understood condition. The role of Team Telomere in providing support, resources, and hope to families worldwide. Will explains the biology of telomeres, what goes wrong in TBDs, and how thymidine may help elongate telomeres. Importance of family health history in understanding TBD disorders Insights from recent research and what early findings suggest about future treatment potential. How researchers and families are coming together to accelerate progress in this ultra-rare disease space. The upcoming clinical trial starting Fall 2025 at Boston Children’s Hospital Slight correction: In the interview Kira indicates that Team Telomere exclusively raised $1 million for the disorder, this is incorrect, there were other donors involved that all added up to $1 million including Boston’s Children’s Hospital and the Martin family. About Team Telomere Team Telomere is a New York–based nonprofit dedicated to supporting families impacted by telomere biology disorders. Through advocacy, community-building events like Cocktails & Chromosomes, and support of cutting-edge research, Team Telomere is lighting the path forward for TBD patients and their families. For relevant resources head to DNAtoday.com and lick on Episode 353. Referenced Research Articles Check out these key papers Will Mannherz brought up during the episode related to telomere biology disorders and thymidine research. Many of which he is a co-author on! Domínguez-González, C., Madruga-Garrido, M., Mavillard, F., Garone, C., Aguirre-Rodríguez, F. J., Donati, M. A., Kleinsteuber, K., Martí, I., Martín-Hernández, E., Morealejo-Aycinena, J. P., Munell, F., Nascimento, A., Kalko, S. G., Sardina, M. D., Álvarez Del Vayo, C., Serrano, O., Long, Y., Tu, Y., Levin, B., Thompson, J. L. P., … Hirano, M. (2019). Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Annals of neurology, 86(2), 293–303. https://doi.org/10.1002/ana.25506 Mannherz, W., Agarwal, S. Thymidine nucleotide metabolism controls human telomere length. Nat Genet 55, 568–580 (2023). https://doi.org/10.1038/s41588-023-01... Mannherz, W., Crompton, A., Lampl, N. et al. Metabolic constraint of human telomere length by nucleotide salvage efficiency. Nat Commun 16, 3000 (2025). https://doi.org/10.1038/s41467-025-58... van der Vis, J. J., van der Smagt, J. J., Hennekam, F. A. M., Grutters, J. C., & van Moorsel, C. H. M. (2020). Pulmonary Fibrosis and a TERT Founder Mutation With a Latency Period of 300 Years. Chest, 158(2), 612–619. https://doi.org/10.1016/j.chest.2020.... Vulliamy, T., Marrone, A., Szydlo, R. et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36, 447–449 (2004). https://doi.org/10.1038/ng1346 Connect With DNA Today Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].