Machaon Diagnostics’ Post

"Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study", publiziert in JCM Special Issue "Diagnosis and Management of Aortic Diseases: Drafting from Theoretical Aspects to Clinical Practice" https://lnkd.in/eZVgsvBK Ich danke allen Netzwerkpartnern, gemeinsam stehen wir für innovative Gefäßmedizin 😷

INNOVATIONS ADVANCED BY M&A: Pompe disease, a rare genetic disease that causes progressive muscle deterioration, was first identified in 1932 by Dutch neurologist Dr. Johannes Pompe but it wasn’t until 2006 that the first treatment for Pompe was brought to market. Read our latest blog to learn how M&A helped make this long-anticipated breakthrough possible: https://lnkd.in/g4b4Fyag

Are you wondering about the differences between AAV and LVV therapies and pros and cons of each? Hear from my colleague, Suparna Sanyal, on her perspective in Medicine Maker about the rising demand for lentiviral and adeno-associated viral (AAV) vectors. She also identifies benefits and challenges of these two vectors, especially relating to scale-up of these innovative therapies. Learn more here.

Currently, only 5% of rare diseases have an approved treatment. But the community of people living with rare diseases deserves to make informed decisions about their path of treatment just like everyone else. At Emmes, our biostatisticians take a unique approach, using statistics to design studies for these smaller populations. To explore more about Emmes’ statistics-first approach to creating effective trials, check out the link below. https://lnkd.in/gVBxAzpB #Emmes #clinicalresearchorginization #CRO #clinicaltrials #raredisease

Always pleasant to read that your old discoveries GCK, HNF1 and MC4R plus some others, that I originally found in extreme cases are important in common forms of metabolic diseases. With already some new treatments (MC4R agonists) and precision medicine wih new protocols in place, now to extend beyond these cases. Medicine progresses by steps but the fist jump matters https://lnkd.in/eMUkAw8Z

Sharing my recently published work on alpha-synuclein modulation of TDP-43 phase separation and aggregation in stress granules. The work highlights the molecular basis of the interplay between Parkinson's disease and ALS/FTD. The paper can be accessed through this link: https://lnkd.in/exE_bTDa #Neurodgeneration #TDP43 #alphasynuclein #parkinsonsdisease #ALS #FTD

Excited to share our thoughts on severe COVID-19 pathogenesis in a mini review currently published in preprint (https://lnkd.in/gDzK27WY). This review was inspired by our meta-analysis, where we found MCEMP1 and HLA-DRA levels in CD14+ cells could predict severe COVID-19 progression (https://lnkd.in/gQg-n_D7). As these genes were characteristic of myeloid-suppressor dendritic cells, we wondered if there were other literature supporting our findings. This review thus summarises our findings and perspectives on the role of myeloid-suppressor dendritic cells in severe COVID-19 pathogenesis. Based on our investigations, we also created a web tool that allows users to query on genes temporally modulated during severe COVID-19, which can be freely accessible at: https://lnkd.in/gzkK-XnC I would like to take this opportunity to thank Jia Soon Len for surveying the literature and writing the manuscript, as well as Clara Koh for designing and developing the webtool. #dukenus #research #review #covid19research

Did you know the use of aminoglycosides in patients with one particular genetic mutation can almost certainly lead to hearing loss? Across more than 40 studies, 100% of those with the MT-RNR1 1555G allele who received an aminoglycoside antibiotic developed hearing loss. 100%. Join us for our next PGx Clinical Pearls webinar to learn how knowing the genetic impacts can help you provide the best care possible. https://lnkd.in/gqy_Pstv

Finally, my review entitled ''The potential role of extracellular vesicles as hepatic diagnostic and therapeutic tools: Can the dream come true?'' comes to light 💡 https://lnkd.in/dnAcQjhU.

#Researchers, crystal structure-based analysis of the orexin receptors with an unselective antagonist revealed previously unknown ligand-binding pockets. These were used as starting points to identify the selective orexin receptor type 1 antagonist BI-5121. Its activity was further confirmed in CNS disease models. Now we make it available on #opnMe to foster further independent research. Learn more:   https://lnkd.in/eDJqAEgk #openscience #boehringer