The Undiagnosed Diseases Network has archived this account. Past posts are preserved for reference.
Joined April 2014
- Tweets 2,603
- Following 129
- Followers 4,335
- Likes 2,652
308 Photos and videos
2 Jun 2025
‼️📣 New Research Funding Announcement: Check out Patient-Centered Outcomes Research Institute (PCORI)’s funding announcement up to $60M in available funding: pcori.me/4hWSNMm
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15 Apr 2025
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/4021…
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9 Apr 2025
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
15 Jan 2025
📺 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
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7 Apr 2025
👏 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
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4 Apr 2025
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/4008…
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3 Apr 2025
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/4011…
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2 Apr 2025
📣 #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-confer…
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17 Mar 2025
🩸🧬 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
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13 Mar 2025
‼️Attention‼️
Check out the platform presentations and posters by UDN investigators at next week's 2025 ACMG Annual Clinical Genetics Meeting!
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12 Mar 2025
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/4004…
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10 Mar 2025
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/3997…
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7 Mar 2025
🎊 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
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7 Mar 2025
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/3996…
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26 Feb 2025
🎊🏅 Congratulations to Shinya on receiving the 2025 Genetics Society of America Award – Early Career Medal!
18 Feb 2025
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
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24 Feb 2025
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/…
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20 Feb 2025
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/…
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UDN retweeted
20 Feb 2025
Rare/undiagnosed disease families researchers of Undiagnosed Disease Network @UDNconnect in person meeting with representation from 15 sites across US. CC @NIH @ChanZuckerberg @PCORI
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14 Feb 2025
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
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13 Feb 2025
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/3989…
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12 Feb 2025
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/3988…
@UDNForg
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