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TDP-43: Why This Protein Matters for ALS & FTD | Explained by a C9orf72 Carrier & Scientist

Yentli Soto Albrecht, PhD и ещё 4

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TDP-43: Why This Protein Matters for ALS & FTD | Explained by a C9orf72 Carrier & Scientist

959 просмотров · 8 мес. назад
Yentli Soto Albrecht, PhD и ещё 4
959 просмотров · 8 мес. назад
Search for a Self Cure Episode 1 What is TDP-43, and why do ALS and FTD researchers talk about it so much? In this video, Dr. Yentli "Gently" Soto Albrecht breaks down the science in plain language—using a city-building analogy to explain how this protein affects neurons and why it's central to developing new biomarkers and therapies. Dr. Soto Albrecht is a C9orf72 repeat expansion carrier predisposed to ALS & FTD (95% chance!) who lost her dad to C9 ALS in 2024. She is an MD-PhD trainee at the University of Pennsylvania and the End the Legacy Community Science Liaison Fellow. She's on a mission to make cutting-edge ALS/FTD research accessible to patients, families, and carriers. You can find a written version here: https://www.endthelegacy.org/search-f... KEY TAKEAWAYS: TDP-43 is an alternative splicing factor—it helps create multiple proteins from the same genetic material When TDP-43 malfunctions, neurons lose critical proteins and can produce abnormal ones These abnormal proteins can serve as biomarkers to detect disease or measure treatment response Some therapies in development aim to either restore TDP-43 to the nucleus or replace it with a functional copy UP NEXT: I interview Phillip Wong, PhD, from Johns Hopkins University, and we discuss his breakthrough treatment in development to correct TDP-43 dysfunction. DID YOU KNOW? TDP-43 dysfunction isn't limited to ALS/FTD—it's also implicated in 57% of Alzheimer's cases and in neurodegeneration following traumatic brain injury. CREDITS: Created by Dr. Yentli Soto Albrecht, PhD Visuals & Editing: Kaylee Morris Music & Audio: Andrew Yarovenko Editing Supervised by: Natasha Warshawsky Video Shot by: Brooke Emmerich Supported by PennMed Trainees Against ALS & FTD and the End the Legacy Community Science Liaison Fund HAVE REQUESTS? For topics or expert interviews: email info@endthelegacy.org If you want to fund cure research, where genetic carriers & scientists jointly fund the most promising research for our survival, visit: https://givebutter.com/IUfRoN If you or your family are affected by familial ALS or FTD: → Join the @EverythingALS Preventive Treatment Study — genetic carriers and at-risk individuals can help us learn how to stop this disease before it starts: email silviya@everythingals.org → Join @EndtheLegacy, the genetic ALS/FTD carrier community—connect with others, access resources & trials, and help direct research toward a cure: https://www.endthelegacy.org/ 10% of ALS is familial. 40% of FTD is familial. We know who’s going to get these diseases. That’s not just a tragedy—it’s an opportunity. Let’s use it. #als #ftd #prevention #EndTheLegacy #FamilialALS #FamilialFTD #C9orf72 #EverythingALS #ALSResearch #FTDResearch #CureALS#CureFTD #GeneticCarrier