UDN

@UDNconnect

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

United States

Joined April 2014

133Following

4KFollowers

Pinned

UDN@UDNconnect · Mar 17

🩸🧬 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

UDNconnect's tweet card. Jason Rose was diagnosed with Diamond-Blackfan anemia syndrome long ago but only recently discovered the diseases underlying cause.

655

UDN@UDNconnect · Jun 2

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

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

171

UDN@UDNconnect · Apr 15

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/

UDNconnect's tweet card. One in 10 individuals has a rare disease, with exome and genome sequencing yielding an overall diagnostic rate of approximately 30 %. RNA sequencing can augment genome analysis and improve diagnosis....

189

UDN@UDNconnect · Apr 9

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

UUDN@UDNconnect · Jan 15

📺 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. bit.ly/3PzYgwQ @UDNForg

244

UDN@UDNconnect · Apr 7

👏 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

UDNconnect's tweet image. 👏 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

118

UDN@UDNconnect · Apr 4

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/

UDNconnect's tweet card. The CDKL (cyclin-dependent kinase-like) family consists of five members in humans, CDKL1-5, that encode serine-threonine kinases. The only member that has been associated with a Mendelian disorder is...

119

UDN@UDNconnect · Apr 3

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/

UDNconnect's tweet card. Rare structural variants (SVs)-insertions, deletions, and complex rearrangements-can cause Mendelian disease, yet they remain difficult to accurately detect and interpret. We sequenced and analyzed...

129

UDN@UDNconnect · Apr 2

📣 #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

UDN@UDNconnect · Mar 13

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

UDNconnect's tweet image. ‼️Attention‼️

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

142

UDN@UDNconnect · Mar 12

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/

UDNconnect's tweet card. Despite rapid advancements in clinical sequencing, over half of diagnostic evaluations still lack definitive results. RNA sequencing (RNA-seq) has shown promise in research settings for bridging this...

623

UDN@UDNconnect · Mar 10

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/

UDNconnect's tweet card. Pathogenic variants resulting in protein phosphatase 2A (PP2A) dysfunction result in mild to severe neurodevelopmental delay. PP2A is a trimer of a catalytic (C) subunit, scaffolding (A) subunit, and...

UDN@UDNconnect · Mar 7

🎊 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

UDNconnect's tweet image. 🎊 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

110

UDN@UDNconnect · Mar 7

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/

UDNconnect's tweet card. We conclude that TAX1BP3 is associated with rare autosomal recessive ACM through TRPV4-mediated Ca2+ leak from RyR2. Further, TRPV4 current inhibition has the potential to be a new therapeutic target...

UDN@UDNconnect · Feb 26

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

GGenetics Society of America@GeneticsGSA · Feb 18

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: buff.ly/437XsH8 1/5🧵

115

UDN@UDNconnect · Feb 24

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

UDNconnect's tweet image. 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

364

UDN@UDNconnect · Feb 20

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

UDNconnect's tweet image. 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

956

UDN Retweeted

Isaac Kohane@zakkohane · Feb 20

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

1.0K

UDN@UDNconnect · Feb 14

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

UDNconnect's tweet card. Male, age 17, with progressive vision loss, eye abnormalities, elevated eye pressure, and delayed speech and language development

UDN@UDNconnect · Feb 13

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/

UDNconnect's tweet card. Heterozygous de novo variants in RYBP are associated with an identifiable syndromic neurodevelopmental disorder with multiple congenital anomalies.

UDN@UDNconnect · Feb 12

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

UDNconnect's tweet card. Resolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized...