UDN

The Undiagnosed Diseases Network has archived this account. Past posts are preserved for reference.

[UDN @UDNconnect]

‼️📣 New Research Funding Announcement: Check out Patient-Centered Outcomes Research Institute (PCORI)’s funding announcement up to $60M in available funding: https://t.co/IZB7WTOstE

[UDN @UDNconnect]

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

https://t.co/T5Fcn4pgr2

[UDN @UDNconnect]

Brendon and Keegan's story was also featured in Harvard Medical School's magazine! Follow the link below for the full article.

🔗 https://t.co/7aBELLM41h

[UDN @UDNconnect]

📺 In this second clip from WCVB-Boston, a father and son's search for a diagnosis is shared. The family finally received answers through the UDN Harvard Team: ROSAH syndrome—a condition so rare that fewer than 100 cases exist worldwide.

https://t.co/PgGPcIg53E

@UDNForg

[UDN @UDNconnect]

👏 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 🎧: https://t.co/baEaxCXDXC

[UDN @UDNconnect]

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

https://t.co/fxfcrgQTnu

[UDN @UDNconnect]

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

https://t.co/MY9ueJHM2i

[UDN @UDNconnect]

📣 #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.

🔗https://t.co/V0nggskcr6

[UDN @UDNconnect]

🩸🧬 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

https://t.co/yZB2qsy7zw

[UDN @UDNconnect]

‼️Attention‼️

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

[UDN @UDNconnect]

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

https://t.co/mt52YoRq1G

[UDN @UDNconnect]

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

https://t.co/FrIpdonmoG

[UDN @UDNconnect]

🎊 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

[UDN @UDNconnect]

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

https://t.co/qKVvJkulhj

[UDN @UDNconnect]

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

[Genetics Society of America @GeneticsGSA]

We are thrilled to announce the 2025 recipients of our Society's most prestigious #awards! Join us in giving them a round (or 2!) of applause 👏

Read more about their #research and contributions in Genes to Genomes: https://t.co/4p7olyF2Ay

1/5🧵

[UDN @UDNconnect]

Last chance join us for a Rare Disease Day event at the Countway Library! Registration is required. #RareDiseaseDay #Undiagnosed #RareDisease #undiagnoseddiseasesnetwork

Register here: https://t.co/3Ozpk0gA5F

[UDN @UDNconnect]

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: https://t.co/3Ozpk0g2g7

[Isaac Kohane @zakkohane]

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

[UDN @UDNconnect]

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!

https://t.co/yHcjR4aPyK

@UDNForg

[UDN @UDNconnect]

Check out the most recent UDN publication!
⭐️Key takeaway: Heterozygous de novo #RYBP variants cause a syndromic neurodevelopmental disorder with congenital anomalies.

@UDNForg

https://t.co/hIOeecPNbE

[UDN @UDNconnect]

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.

https://t.co/MgPNJNmua2

@UDNForg