The Spring 2024 UDN Quarterly Report is now available!

undiagnosed.hms.harvard.edu/wp-content/upl…

Please join us this Thursday (04/11/24) at 1 p.m. ET for UDN Grand Rounds hosted by the University of Alabama clinical site. View the full schedule and register harvard.zoom.us/webinar/regist………… #FreeCME #GrandRounds

Want to apply for The Patient-Centered Outcomes Research Institute’s Addressing Rare Diseases funding opportunity? Make your submission the best it can be by attending the Applicant Town Hall on May 14! Register today to learn everything you need to submit a responsive LOI: pcori.me/3OGOn02

Research Funding Reminder: The Patient-Centered Outcomes Research Institute seeks to fund patient-centered CER projects focused on rare diseases! Explore the Addressing Rare Diseases PFA today and see how you can take the first step: pcori.me/3SFCmJl

Participant 223: male, age 14, with autism, absent speech, developmental delay, and recurrent episodes of severe abdominal pain and variants in #CNTN6 . Reach out if you know of others with similar symptoms and variants!

undiagnosed.hms.harvard.edu/participants/p…

Participant 222: male, age 11, with gross motor delay, language impairment (aphasia), and autism and variants in #FAT1 , #CAMTA1 , and #DST . Reach out if you know of others with similar symptoms and variants!

undiagnosed.hms.harvard.edu/participants/p…

🧬 Thank you #ACMGMtg24 - see you next year in LA ☀️🌴

🧬 Excited to delve into RNA sequencing's role in tackling unique diagnostic challenges? Hear from Robert Lewis during the lab platform session this afternoon at #ACMGMtg24

🧬 Curious about the diagnostic success of genomic analyses in adults with undiagnosed diseases? Stephanie Bivona has the insights you need! Catch her platform talk this afternoon at #ACMGMtg2024

📌 Don't forget to visit the posters! Get up close with cutting-edge research and discoveries from the Undiagnosed Diseases Network at posters 290, 364, 398, 428, 750 & 848. See you there! #ACMGMtg24

Starting now in Hall FG! UDN investigators presenting 8 true unknowns at #ACMGMtg24

🔬 That's a wrap on Day 3! See you tomorrow for Diagnostic Dilemmas 'True Unknowns' from the Undiagnosed Diseases Network starting at 8am in MTCC Exhibit Hall FG #ACMGMtg24

🧬 Explore the frontier of therapeutic development with Thomas LaRocca as he discusses anti-sense oligonucleotide therapy targeting RhoBTB2-related Epileptic Encephalopathy at #ACMGMtg24

🧬 Long-read sequencing holds promise in diagnosing the undiagnosed. Join Shilpa Kobren & colleagues for an insightful discussion after lunch today at #ACMGMtg24

📌 Don't miss out on exploring groundbreaking research at #ACMGMtg24 ! Take a stroll through the poster session today and see the latest findings from the Undiagnosed Diseases Network at posters 173, 237, 315, 331, 383 & 639 🧬

🧬 Good morning from Day 3 of #ACMGMtg24 ! The UDN is here sharing our latest research. Remember, we continue to accept new participants & we’re ready to be a resource for your patients with undiagnosed conditions. See udnconnect.org/udn-sites to see our expanded network.

🔍 Unlock the potential of transcriptome RNA-Seq analysis in disease diagnostics with Pengfei Liu during the “Think Rare: Solving the Undiagnosed Cases Beyond Exome or Genome Sequencing” session starting shortly in room 701 #ACMGMtg24

🎉 A round of applause for Dr. Bruce Korf, UDN Principal Investigator, recipient of the 2024 David L. Rimoin Lifetime Achievement Award in Medical Genetics! His dedication and contributions inspire us all. #ACMGMtg24 #MedicalGenetics 🏆🧬

🧬 Good morning from #ACMGMtg24 ! The UDN is here and excited to share our latest advancements in diagnosing patients with talks and posters throughout the conference. From groundbreaking research to new discoveries for patients, we're making strides every day.

Did you catch Shinya Yamamoto's presentation at #TAGC24 ? He is a Co-Director of the UDN Model Organisms Screening Center at Baylor College of Medicine and serves as Co-Chair of the UDN Steering Committee. His work contributes significantly to diagnosing UDN participants.