Participant 224: Male, age 5 with a heart defect, brain abnormalities, and global developmental delay, partially caused by changes in the #RBM28 gene. Reach out if you know of others with similar symptoms and variants! undiagnosed.hms.harvard.edu/participants/p…

Please join us this Thursday (06/13/24) at 1 p.m. ET for UDN Grand Rounds hosted by the Harvard Teaching Hospitals. View the full schedule and register harvard.zoom.us/webinar/regist…………… #FreeCME #GrandRounds

Participant 225: female, age 5, with developmental delay, immunodeficiency, and skin changes and variants in #RIPK1. Reach out if you know of others with similar symptoms and variants! undiagnosed.hms.harvard.edu/participants/p…

🏆 Kimberly LeBlanc, MS, CGC Named Recipient of the Harvard Medical School 2024 Joseph B. Martin Dean's Leadership Award for the Advancement of Women Staff! Congratulations Kim!

Check out the most recent UDN publication! Key takeaway: A sibling pair had compound heterozygous VUS in the #TTNgene. Further reanalysis of RNAseq data with a different approach led to the diagnosis of congenital titinopathy. pubmed.ncbi.nlm.nih.gov/38924341/

❗️In two hours❗️ July 15 (Monday): 2:00-3:00 PM ET Webinar: NINDS Neural Exposome Top Priorities (NEXT) Working Group Strategic Planning Open Session 🔗 Follow this link for more details and registration: bit.ly/4cDoV5x

Check out the most recent UDN publication! Key takeaway: #TUBB4B variants identified were found to disrupt centriole and cilium biogenesis in primary ciliary dyskinesia, affecting microtubule dynamics and enabling classification of ciliopathies. pubmed.ncbi.nlm.nih.gov/38662826/

Check out the most recent UDN publication! Key takeaway: Dysregulation of glutamine synthetase (GS) due to #GLUL variants was found to be associated with severe developmental delays and neurological issues. pubmed.ncbi.nlm.nih.gov/38579670/

.NIH funds 12 Diagnostic Centers of Excellence in Phase III of the Undiagnosed Diseases Network, expanding its geographic coverage: go.nih.gov/eOFaYGe

With heavy hearts, we share Claire's story, a brave girl who passed from an unknown metabolic disease. Her parents hope her story inspires others to seek answers and find a cure for similar challenges. Claire's legacy will be remembered. undiagnosed.hms.harvard.edu/claires-legacy…

Check out the most recent UDN publication! Key takeaway: Genome-wide DNA methylation analysis identified candidate variants in 2% of unsolved DEE cases, including rare DMRs, episignatures, and pathogenic #CHD2 variants. pubmed.ncbi.nlm.nih.gov/39107278/

Check out the most recent UDN publication! Key takeaway: Bi-allelic RFC4 variants disrupt RFC complex formation, impair DNA replication, and are linked to a multisystemic disorder, highlighting the role of RFC4 in genomic integrity and disease. pubmed.ncbi.nlm.nih.gov/39106866/#full…

Check out the most recent UDN publication! A patient with #UQCRFS1-related mitochondrial complex III deficiency and #GJA8-related cataracts was identified. The #UQCRFS1 variant caused complex III dysfunction, confirming its pathogenic role. sciencedirect.com/science/articl…

Mitchell Herndon’s battle with an undiagnosed disease led to the discovery of 'Mitchell Syndrome,' a condition he faced with courage until he passed. Mitchell's journey inspired his mother, Michele, to support other individuals with Mitchell Syndrome. bit.ly/4dJpuvd

Check out the most recent UDN publication! ⭐️ Key takeaway: The novel p.H119Y variant in #MAP2K1 expands the phenotypic spectrum of #MAP2K1-related RASopathies, revealing atypical features not previously linked to cardio-facio-cutaneous syndrome. pubmed.ncbi.nlm.nih.gov/39166407/

Check out the most recent UDN publication! ⭐️Key takeaway: A research reanalysis identified a homozygous #DPH1 variant, diagnosing DEDSSH1 in a sibling pair initially labeled with Fine-Lubinsky syndrome, underscoring #DPH1 screening and RNAseq validation. pubmed.ncbi.nlm.nih.gov/39166428/

Check out the most recent UDN publication! ⭐️ Key takeaway: This study links #DENND5A variants to DEE by demonstrating disrupted neural progenitor cell division, offering insights into the condition’s mechanism and variant-specific clinical guidance. pubmed.ncbi.nlm.nih.gov/39174524/#full…

📢 Attention 📢 Two UDN posters will be presented at the 2024 NSGC Annual Conference in New Orleans, LA, from September 17-21. Congratulations to Kelly and Beatriz!

Check out the most recent UDN publication! ⭐️ Key takeaway: This study links #RAB11A missense variants to intellectual disability, developmental delays, multisystemic features, and epilepsy from variants outside binding sites. pubmed.ncbi.nlm.nih.gov/39181022/

Check out the most recent UDN publication! ⭐️ Key takeaway: Variants in the LRRC7 gene, encoding Densin-180, cause a neurodevelopmental disorder with intellectual disability and autism by disrupting synaptic function. pubmed.ncbi.nlm.nih.gov/39256359/