Check out the most recent UDN publication! ⭐️Key takeaway: A novel de novo missense variant in #KIF21A (p.Leu664Pro) disrupts its interaction with #TUBB3, leading to a phenotype characterized by progressive peripheral neuropathy, brain anomalies, developmental delay, and comitant strabismus, distinct from isolated congenital fibrosis of the extraocular muscles (#CFEOM). Undiagnosed Diseases Network (UDN) Undiagnosed Diseases Network Foundation (UDNF)
Undiagnosed Diseases Network (UDN)
Research Services
Boston, MA 2,169 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 | Clinical Operation, Trials | Portfolio, Pipeline, Experiment Development | Global Organization | Rare Diseases…
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Giorgio Sirugo
Medical Genetics, MD, PhD
Updates
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Check out the most recent UDN publication! ⭐️Key takeaway: Telehealth exams in the UDN showed strong consistency with in-person evaluations, minimal diagnostic misses, and high patient satisfaction, supporting its utility in undiagnosed disease care. Undiagnosed Diseases Network (UDN) Undiagnosed Diseases Network Foundation (UDNF)
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study - PubMed
pubmed.ncbi.nlm.nih.gov
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📣 Check out #AWSreInvent 2024 and Cooper’s story!
The upcoming 13th #AWSreInvent promises to be a showcase of cutting-edge technology and innovation. Amidst the excitement, it's important to reflect on the deeper purpose that fuels our passion. At this year's AWSReinvent, a touching story awaits. We are honored to present limited-edition pins designed by Cooper, an inspiring 11-year-old bravely facing an undiagnosed illness, in collaboration with Undiagnosed Diseases Network (UDN) and Undiagnosed Diseases Network Foundation (UDNF). These pins symbolize hope, resilience, and the unwavering human spirit - embodying the essence of our mission. Our focus is on amplifying Cooper's remarkable journey, shedding light on undiagnosed and rare diseases, and recognizing the pivotal role of healthcare professionals, researchers, and engineers utilizing cloud innovations to drive impactful change. Join us at #AWSReinvent 2024 collect one of these special limited edition pins at the Healthcare & Life Sciences kiosk at the AWS for Industries Pavilion. Let's come together to support a cause that truly makes a difference. Learn more about Cooper's story here: https://go.aws/3AZHbIO #AWSreInvent #Innovation #HealthcareImpact Amazon Web Services (AWS)
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📣 HEALTH CARE PROFESSIONALS: Register for FREE Rare Epilepsies Focused ECHO in 2025 led by National Experts *ATTENTION neurologists, RNs, genetic counselors, PCPs, ER doctors and other HCPs* Learn more and register at: https://lnkd.in/g32s62vz Want to learn how to diagnose and manage complex rare epilepsy patients? Which genetic test to order and when? How do you manage non-seizure comorbidities and so much more from TOP faculty nationwide? Check out this FREE program offered on alternating Wednesdays with six sixty-minute sessions launching January 22nd.
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Check out the most recent UDN publication! ⭐️Key takeaway: The study highlights that 85% of inherited metabolic diseases (IMDs) in the #UndiagnosedDiseasesNetwork (UDN) cohort were diagnosed using next-generation sequencing (NGS), emphasizing its critical role in identifying a broad spectrum of IMDs missed by traditional methods. Undiagnosed Diseases Network (UDN) Undiagnosed Diseases Network Foundation (UDNF)
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases - PubMed
pubmed.ncbi.nlm.nih.gov
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Check out the most recent UDN publication! ⭐️Key takeaway: De novo deletions in #CHASERR, a lncRNA gene regulating CHD2, cause a unique neurodevelopmental disorder distinct from CHD2 haploinsufficiency by increasing #CHD2 expression, demonstrating #CHD2's bidirectional dosage sensitivity in human disease.
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene - PubMed
pubmed.ncbi.nlm.nih.gov
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Check out the most recent UDN publication! ⭐️Key takeaway: A long-read genome sequencing study resolved nine inversions, including one disrupting #EHMT1, highlighting the importance of the T2T-CHM13 reference genome for detecting inversions in clinically relevant genes, particularly those involving previously unreferenced or variable regions.
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps - PubMed
pubmed.ncbi.nlm.nih.gov
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Check out the most recent UDN publication! ⭐️Key takeaway: Autosomal dominant congenital disorder of glycosylation type Iw is caused by a heterozygous #STT3A mutation, highlighting a newly recognized AD form of a typically AR condition.
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition - PubMed
pubmed.ncbi.nlm.nih.gov
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The Fall 2024 UDN Quarterly Report is now available! #Undiagnosed Diseases Network (UDN) #Undiagnosed Diseases Network Foundation (UDNF)
UDN Quarterly Report - Fall 2024
undiagnosed.hms.harvard.edu