Collaborative research at its best! A new study co-authored by 3 Arcensus researchers links PLAT gene LOF variants to #hydrocephalus & #DandyWalker malformation, offering insights into rare congenital brain anomalies. https://t.co/ck1LR4uaKx
#RareDisease#CongenitalDisorder#Gene
We would like to honour genetic counselors for their crucial role in healthcare as they provide life-changing insights and guide patients through complex diagnoses with empathy and deep scientific expertise.
THANK YOU! We need more of you!
#GeneticCounselorsAwarenessDay
It’s official: Arcensus is now CAP-accredited, and we’re proud of this milestone. CAP accreditation underscores our commitment to quality, accuracy, and reliability in diagnostics through WGS and WES. A big thank you to our dedicated team! #DiagnosticExcellence#CAPAccreditation
Meet Dr. Alexandru Popa, the new CEO of Arcensus GmbH! With 20+ years in healthcare, he’ll strengthen our focus on delivering high-quality genomic data and comprehensive reports that empower patients and healthcare providers.
https://t.co/TQgl2Zd174
#WGS#WES#Datadriven
Repeat Expansion Disorders Likely Underdiagnosed
A study led by @ucl and @QMUL shows that repeat expansion disorders are a lot more common than previously thought meaning that many people with these conditions probably evade diagnosis.
https://t.co/hsfvi14Zob
Duchenne Muscular Dystrophy (DMD) affects 1 in 5k boys and it often takes 2.5 years to diagnose.
For #WorldDuchenneAwarenessDay, let's recognize the signs, advocate for early intervention, and promote early genetic testing.
Great video @ DMD: https://t.co/XjCHKFodGI
#WDAD2024
We're relocating to a new office by the Baltic Sea in Warnemünde's Biotechnology Park!
Our growth requires more space to expand our team and advance genomic insights. Visit our homepage to schedule a tour of our new office!
We've worked with the RCGP to create a comprehensive toolkit of resources on #genomics for primary care practitioners. Check out the toolkit and find out what's on offer: https://t.co/jQSXbhSepY
Don’t miss our webinar this Thursday to
- Gain insights into secondary findings
- Discover the value of secondary findings in cardiovascular disease
- Learn to manage patients and relatives with CVD-related secondary findings: https://t.co/RHMW2TqTe5 via @arcensus
We have launched our Arcensus monthly newsletter! Subscribe for educational resources, in-depth articles, expert opinions, case studies and more here:
https://t.co/GhulXFrJWt
#Arcensusnewsletter#genomicsnews
Have you seen the recent paper by Chi et al. (PMID: 38789118)? By re-evaluating existing WGS data with the latest techniques and knowledge, we can boost the diagnostic yield. This can lead to more accurate diagnoses, better-informed treatment plans, and improved patient outcomes.
#InvolveAustralia has released practical recommendations for health and medical research institutes and funders, urging them to play a stronger role in supporting #communityinvolvement in #research.
View the recommendations here 👇
https://t.co/Ey7EiA8TyV
Genetic changes that leave newborns with little to no immune defence against infection have been pinpointed by scientists
The discovery will help accelerate diagnosis and life-saving treatment for these high-risk #raredisease patients
https://t.co/YxBTSONIf8
We are presenting new findings on Developmental and Epileptic Encephalopathies (DEE) at the #ESHG2024 conference!
Three novel variants in the FZR1 gene shed light on the genetic basis and phenotype spectrum of this rare condition.
#DEE#EpilepsyResearch
If you are attending #ESHG2024, stop by the poster presentation on "Nuclear Mitochondrial DNA disruption in KLHL10 gene causes Spermatogenic Failure" to explore new research on male infertility and reproductive health. See you there!
#MaleInfertility#ReproductiveHealth
Join us at #ESHG2024in#Berlin! Looking forward to connect with genetic enthusiasts for discussions on genomics, collaborations, and research. Reach out if you would like to schedule a chat. Can't wait to meet you there!
#genetics#networking#collaboration