UDN

‼️📣 New Research Funding Announcement: Check out Patient-Centered Outcomes Research Institute (PCORI)’s funding announcement up to $60M in available funding: pcori.me/4hWSNMm

Check out the most recent UDN publication! ⭐️ Key takeaway: RNA sequencing identified compound heterozygous variants in #NBAS, enabling diagnosis and expanding the known phenotype of #NBAS deficiency. @UDNForg pubmed.ncbi.nlm.nih.gov/40215727/

Brendon and Keegan's story was also featured in Harvard Medical School's magazine! Follow the link below for the full article. 🔗 bit.ly/3YrffWG

👏 Christine McGarvey was featured on #LivingWellPod. In the podcast, Christine shares her diagnostic odyssey and her journey to becoming an advocate and a #UDNPEER member. @UDNForg Listen to the podcast 🎧: bit.ly/43xfjaU

Check out the most recent UDN publication! ⭐️ Key takeaway: De novo variants in #CDKL2 and #CDKL1 likely cause neurological symptoms by acting as dominant-negative alleles, expanding the role of the #CDKL family in developmental disorders. @UDNForg pubmed.ncbi.nlm.nih.gov/40088891/

Check out the most recent UDN publication! ⭐️Key takeaway: Compound heterozygous deletions in #FAM177A1 likely caused a rare neurodevelopmental disorder in two siblings, showcasing the power of long-read sequencing in rare diseases. @UDNForg pubmed.ncbi.nlm.nih.gov/40113264/

📣 #ReNUSyndromeUnited is looking for clinicians and researchers to submit abstracts to the upcoming conference on July 23-25, 2025. Attendance from those interested in learning more and meeting ReNU syndrome families is also welcome. 🔗renusyndrome.org/2025-conference

🩸🧬 After living with Diamond-Blackfan anemia syndrome for 50 years, Jason Rose partnered with the UDN Miami Site to uncover a large deletion on chromosome 3 that included the #RPL35A gene known to be responsible for up to 3% of #DBAS cases. @UDNForg bit.ly/4ibrGOq

‼️Attention‼️ Check out the platform presentations and posters by UDN investigators at next week's 2025 ACMG Annual Clinical Genetics Meeting!

Check out the most recent UDN publication! ⭐️Key takeaway: Researchers at Baylor College of Medicine validated an RNA-seq test to detect gene expression and splicing outliers for genetic diagnostics @UDNForg pubmed.ncbi.nlm.nih.gov/40043707/

Check out the most recent UDN publication! ⭐️Key takeaway: Pathogenic #PPP2R5C variants cause a Houge-Janssens spectrum disorder with neurodevelopmental delay, hypotonia, epilepsy risk, and macrocephaly. @UDNForg pubmed.ncbi.nlm.nih.gov/39978342/

🎊 Successful 2025 in-person meeting 🎊 Reflecting on the great meeting in February! Great to connect face-to-face, welcome new network members, and discuss advances in diagnostics and better ways to support participants just a week before #RareDiseaseDay

Check out the most recent UDN publication! ⭐️Key takeaway: #TAX1BP3 is associated with rare autosomal recessive Arrhythmogenic cardiomyopathy through #TRPV4-mediated Ca2+ leak from RyR2. @UDNForg pubmed.ncbi.nlm.nih.gov/39963794/

🎊🏅 Congratulations to Shinya on receiving the 2025 Genetics Society of America Award – Early Career Medal!

Last chance join us for a Rare Disease Day event at the Countway Library! Registration is required. #RareDiseaseDay #Undiagnosed #RareDisease #undiagnoseddiseasesnetwork Register here: libcal.countway.harvard.edu/event/14079765

Bring your friends and family and join us for a Rare Disease Day event at the Countway Library! Registration is required. #RareDiseaseDay #Undiagnosed #RareDisease #undiagnoseddiseasesnetwork Register here: libcal.countway.harvard.edu/event/14079765

Rare/undiagnosed disease families researchers of Undiagnosed Disease Network @UDNconnect in person meeting with representation from 15 sites across US. CC @NIH @ChanZuckerberg @PCORI

Participant 230: Male, age 17, with progressive vision loss, eye abnormalities, elevated eye pressure, delayed speech and language, and a variant in six genes. Reach out if you know of others with similar symptoms and variants! bit.ly/417RHIk @UDNForg

Check out the most recent UDN publication! ⭐️Key takeaway: Heterozygous de novo #RYBP variants cause a syndromic neurodevelopmental disorder with congenital anomalies. @UDNForg pubmed.ncbi.nlm.nih.gov/39891528/

Check out the most recent UDN publication! ⭐️Key takeaway: Long-read multi-omic sequencing revealed that an X;13 translocation disrupted #NBEA, #PDK3, #MAB21L1, and RB1 through distinct mechanisms. pubmed.ncbi.nlm.nih.gov/39880924/ @UDNForg