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The first step toward a Research Agenda for #rarediseases is to listen to patients/families. Understanding what they need, expect, and what isn’t working lays the foundation for a patient-centered approach—one where patients lead, and every stakeholder aligns around their needs.

ivanduncker.substack.com/p/navigating-t… #rarediseases MentalHealth.com

cell.com/ajhg/abstract/… A great story on how fly #genetics is giving valueble therapeutic solution pathways for children affected by #raredisease PIGA-CDG #glycotime

🌍 Grateful for the CZI Meeting! 💡 Inspiring to learn from rare disease organizations on building patient-centered research agendas. Collaboration is key to advancing impactful research for CDG & beyond! 💚✨ #CDG #RareDisease #CZI #PatientCenteredScience #StrongerTogether

Reported from the #SSIEM Adult Metabolic Group at The Journal of Inherited Metabolic Disease underlining the need of training programs in IMD for adult physicians due the complexity and spectrum of these disorders & the ↗️number of adult pts diagnosed w/acute decompensations,where lifesaving treatments exist

frontiersin.org/research-topic… #genetics #carbohydrates #glycotime Publish your research

Happy to share the recent IRDiRC publication on Drug-device combinations (DDCs) for Rare Diseases, where we discuss the challenges and needs to consider access, equity and regulation of DDCs for delivering therapies effectively in patients living with #RareDiseases

📣 Oportunidad de realizar trabajo postdoctoral en genómica humana, salud de precisión, estadística genómica o bioinformática utilizando datos genómicos de gran escala con énfasis en poblaciones mexicanas y latinoamericanas, ¡contáctame para platicar!

¡Únete al movimiento! Este 16 de mayo, el mundo se pinta de verde #CDGGOGREEN CDG CARE

In a medical milestone, a customized base editor was developed, characterized in human and mouse cells, tested in mice, studied for safety in non-human primates, cleared by U.S. FDA for clinical trial use, manufactured as a complex with an LNP, and dosed into a baby with a severe,

A baby named KJ, who was born with a rare genetic disorder – CPS1 deficiency – is healed thanks to doctors at the Children's Hospital who administered the world’s first personalized gene-editing treatment. The research team used base editing, a gene-editing method invented by HHMI

An innovative genome-editing tool promises to do what original CRISPR systems have struggled to achieve: insert entire genes, precisely and efficiently, into human DNA go.nature.com/430GeeB

#CDGAwareness Day. Science in #RareDisease is urgent, personal, and deeply human. In studying Congenital Disorders of Glycosylation (CDG), we decode biology, fight for diagnosis, push treatments forward, and learn from families. Read more: open.substack.com/pub/ivanduncke…

Thank you so much Harry Sokol for the organisation of these 2 amazing days of GlycanTrigger meeting full of great science and exciting ongoing results 🧫🧪hosted in the charming city of Paris 🇫🇷 #glycotime i3S-Instituto de Investigação e Inovação em Saúde

¿Estás #embarazada? Realízate un estudio genético prenatal para detectar enfermedades hereditarias directamente en el ADN del feto que circula en tu sangre. No te limites al ultrasonido y pruebas de tamizaje que miden proteínas en sangre (PAPP-A). #Genética #prenatal

¿Tienes un hijo con #discapacidad intelectual? Saber si la causa está en su material genético (ADN), especificamente por un cambio (mutación), puede cambiar la forma en que entendemos su condición y lo cuidamos. Aquí te comparto 5 razones: bit.ly/3GuP6Aw

#AlAire en El Txoro Matutino Analicemos juntos los temas más importantes en #Morelos, tales como las reacciones tras el cierre de la planta de Nissan en Civac. 📲 youtube.com/live/P0V7RmNGZ… 🗣️Juan José Arrese / ¸.•*♑︎ ⓥ꙳Viri Arias ♡ / Pepe Montes / Iván Martínez Duncker MD ScD

open.spotify.com/episode/1IPgLw… #glycotime #genetics #therapy Irena Muffels