Sam Patel
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patelsam.bsky.social
Sam Patel
@patelsam.bsky.social
Cell Biologist | Orphan/Rare Diseases | Regenerative & Precision Medicine | Birdie Daddy | 🇨🇦 in 🇺🇸
Excited to share how AI-powered tools, from symptom-matching to facial phenotyping, are transforming rare disease diagnostics—enabling faster, more accurate detection and earlier interventions for better patient outcomes. #AI #RareDiseases #PrecisionMedicine

www.meddeviceonline.com/doc/a-look-a...
A Look At AI-Driven Medtech For Rare Disease Diagnosis
<p>Recent advances in AI, including machine learning, natural language processing, and deep learning models, are transforming rare disease diagnosis.</p>
www.meddeviceonline.com
March 12, 2025 at 7:22 PM
Did you know that 1 in 10 Americans lives with a rare disease, yet only 5% of rare diseases have FDA-approved treatments? For many families, the journey to a diagnosis takes years, delaying critical care and treatment.

slc6a1connect.org/2025/02/27/u...
Understanding Rare Diseases Beyond the Numbers - SLC6A1 Connect
As we continue our exploration of rare diseases, Dr. Sam Patel examines their global impact, diagnostic challenges, and treatment gaps, offering insights
slc6a1connect.org
February 27, 2025 at 6:06 PM

Rare diseases like SLC6A1-related disorders pose unique challenges, from limited awareness to insufficient funding for research.

#raredisease

www.linkedin.com/posts/ampate...
Sam Patel, PhD on LinkedIn: SLC6A1 Connect and the Challenge of Rare Disease - SLC6A1 Connect
Rare diseases like SLC6A1-related disorders pose unique challenges, from limited awareness to insufficient funding for research. This article highlights the…
www.linkedin.com
January 27, 2025 at 3:04 AM
Reposted by Sam Patel
As a researcher investigating #language and #genetics, this @tomgauld.bsky.social cartoon really speaks to me.
November 12, 2024 at 5:21 PM
Reposted by Sam Patel
Roche to acquire Poseida Therapeutics for $1B upfront, $1.5B total deal value

Transposons for the win!

$PSTX

investors.poseida.com/news-release...
investors.poseida.com
November 26, 2024 at 6:33 AM
Reposted by Sam Patel
Super recent publication:
AAV vector-derived elements integrate into Cas9-generated double-strand breaks and disrupt gene transcription
#AngelmanSyndrome

doi.org/10.1016/j.ym...
November 25, 2024 at 5:59 PM
Reposted by Sam Patel
Just did my first Starter Pack, I think it can be useful. Let me know if you miss any journal and I will add it. Enjoy!! go.bsky.app/QPFZpj9
November 25, 2024 at 8:26 PM
Reposted by Sam Patel
Successful adaptation of a MinION nanopore for protein sequencing
doi.org/10.1093/synb...
Successful adaptation of a MinION nanopore for protein sequencing
Casey-Tyler Berezin; Successful adaptation of a MinION nanopore for protein sequencing, Synthetic Biology, , ysae017, https://doi.org/10.1093/synbio/ysae01
doi.org
November 25, 2024 at 1:29 PM
Reposted by Sam Patel
🚨 If you haven’t seen it yet…

📢 The NIH BioArt Source provides a library of FREE professionally designed illustrations and icons, available for anyone to use. They can be Downloaded in High Definition.

Check it out at bioart.niaid.nih.gov
November 23, 2024 at 11:30 PM
Reposted by Sam Patel
Fuck.
November 13, 2024 at 11:38 AM
Reposted by Sam Patel
Europa Clipper xkcd.com/3011
November 13, 2024 at 1:04 PM