TODAY is #RareDiseaseDay! 💙💚💜
All over the world, the rare disease community are sharing their colours and demanding equity for people living with a rare disease.
As a global community, we have a powerful voice! 📣
How are you sharing your colours today? 👇👇👇
Happy to share our manuscript published in @GIMJournal describing a novel #raredisease caused by biallelic loss-of-function variants in UBE4A. rdcu.be/cdhyU
Mice generated @ucdavis to mimic patient-specific loss-of-function variant exhibited muscular and neurological abnormalities seen in affected individuals.
Now online in @GIMJournal: Hane Lee & colleagues share findings from RNASeq on 113 undiagnosed patients referred to UDN clinical site @UCLAHealth. Questions? Come to her talk during the RNASeq session at #ASHG19 on Thursday afternoon nature.com/articles/s41436-0…
One month until #ASHG19! There are >20 UDN related talks and posters this year. Check out the full list below and on our website: udnconnect.org/the-undiagnos…
Thank you #ACMGMtg19 for a fun & memorable opening reception 🥁 see you tomorrow at 9am- we’re over in 4C across from ACMG & the #ACMGFoundation Day of Caring bikes!
Shelin Adam MSc @UBC reports that decisional regret was higher in 194 families who remained undiagnosed after WGS, and highlights an important issue for post-test genetic counseling in this population. #ACMGMtg19#GCchat#raredisease
Information about the UDN now available in Spanish on our website! ¡La información acerca de la UDN ya está disponible en español en nuestro sitio web! undiagnosed.hms.harvard.edu/…
"Access to Genetic Counselor Services Act of 2018” was introduced in the House of Reps. Join us in asking your members of Congress for support of this critical bill, which would authorize CMS to recognize CGCs as healthcare providers. Learn more: bit.ly/2RcxCcP#GCchat