Check out the most recent UDN publication! Key takeaway: Dysregulation of glutamine synthetase (GS) due to #GLUL variants in nine individuals was found to be associated with severe developmental delays and neurological issues, highlighting the importance of tightly regulating glutamine metabolism in neurodevelopment.
Undiagnosed Diseases Network (UDN)
Research Services
Boston, MA 1,753 followers
The Undiagnosed Diseases Network is a research study focused on rare and undiagnosed conditions.
About us
The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. Through this study, we hope to both help individual patients and families living with the burden of undiagnosed diseases, and contribute to the understanding of how the human body works.
- Website
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https://linktr.ee/UDNconnect
External link for Undiagnosed Diseases Network (UDN)
- Industry
- Research Services
- Company size
- 51-200 employees
- Headquarters
- Boston, MA
- Type
- Educational
Locations
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Primary
Get directions
Boston, MA 02115, US
Employees at Undiagnosed Diseases Network (UDN)
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G. Michael Wall, Ph.D.
SVP & CSO at NACUITY PHARMACEUTICALS, INC., and VP, PHARMACEUTICAL DEVELOPMENT at SOUND PHARMACEUTICALS, INC.
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Brian Corner
Genetic Counselor, Undiagnosed Diseases
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Elena-Raluca Nicoli Pharm., Ph.D., M.B.A.
Translational Biomedicine Scientist | Pharmacogenomics | Neurobiology & Neurodegeneration | Oncology (Voluntary position)
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Giorgio Sirugo
Medical Genetics, MD, PhD
Updates
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Check out the most recent UDN publication! Key takeaway: #TUBB4B variants identified in 12 patients were found to disrupt centriole and cilium biogenesis in primary ciliary dyskinesia, affecting microtubule dynamics and enabling classification of ciliopathies into three categories.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules - PubMed
pubmed.ncbi.nlm.nih.gov
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Check out the most recent UDN publication! Key takeaway: A sibling pair had compound heterozygous variants of uncertain significance (VUS) in the #TTNgene. While this result was considered nondiagnostic, further reanalysis of RNAseq data with a different approach led to the diagnosis of congenital titinopathy four years later. The article highlights the need for ongoing reanalysis and consideration of variant data.
Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy - PubMed
pubmed.ncbi.nlm.nih.gov
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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: https://lnkd.in/ersiuKej #FreeCME #GrandRounds
Zoom for Harvard
harvard.zoom.us
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🔥D-1🔥 Deadline approaching: #PCORI seeks to fund patient-centered CER studies focused on rare diseases! Up to $100M in available funding! Explore new PFA today and see how you can take the first step: https://pcori.me/3SFCmJl Up to $100M in available funding!
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🔥D-7🔥 Deadline approaching: #PCORI seeks to fund patient-centered CER studies focused on rare diseases! Up to $100M in available funding! Explore new PFA today and see how you can take the first step: https://pcori.me/3SFCmJl Up to $100M in available funding!
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🔥D-14🔥 Deadline approaching: #PCORI seeks to fund patient-centered CER studies focused on rare diseases! Up to $100M in available funding! Explore new PFA today and see how you can take the first step: https://pcori.me/3SFCmJl Up to $100M in available funding!
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🔬 Congratulations to Dr. William Gahl and the entire UDP team for this feature in the Washingtonian magazine! Access the article in Washingtonian's March 2024 Issue: Cool Jobs at https://bit.ly/3wufQME #UDN #UDP #Genetics #RareDiseases #NIH #MedicalMysteries
Meet the NIH Detectives Cracking Medicine’s Toughest Cases
https://www.washingtonian.com
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Please join us tomorrow (05/9/24) at 1 p.m. ET for UDN Grand Rounds hosted by the University of Utah clinical site. View the full schedule and register https://lnkd.in/eV2bMbd2 #FreeCME #GrandRounds
LinkedIn
lnkd.in